4689 lines
374 KiB
Text
4689 lines
374 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- *117700 - CERULOPLASMIN; CP
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=117700"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">*117700</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#evolution">Evolution</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/117700">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000047457;t=ENST00000264613" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1356" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=117700" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000047457;t=ENST00000264613" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000096,NR_046371,XM_006713499,XM_006713500,XM_006713501,XM_011512435,XM_017005734,XM_017005735,XR_427361" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000096" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=117700" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://hprd.org/summary?hprd_id=00317&isoform_id=00317_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.proteinatlas.org/search/CP" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/protein/30174,180249,180256,219549,1335036,1335037,1620909,1666064,1731685,6049160,8170711,47125416,83699641,119599288,119599289,119599290,148744392,148922232,158255874,170560903,193787817,221042622,578807061,578807063,578807065,767925751,1034631287,1034631289,1519314162,2462587260,2462587262,2462587264,2462587266,2462587268,2462587271,2664702705" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.uniprot.org/uniprotkb/P00450" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=1356" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000047457;t=ENST00000264613" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=CP" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=CP" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+1356" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/CP" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:1356" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/1356" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr3&hgg_gene=ENST00000264613.11&hgg_start=149162414&hgg_end=149221829&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2295" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/gene/cp" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=117700[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=117700[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000047457" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ebi.ac.uk/gwas/search?query=CP" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=CP" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CP" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CP&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.pharmgkb.org/gene/PA26815" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/gene/HGNC:2295" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:88476" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://v1.marrvel.org/search/gene/CP#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/marker/MGI:88476" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/1356/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=1356" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-010522-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1356" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://reactome.org/content/query?q=CP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 124224004<br />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
117700
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CERULOPLASMIN; CP
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
FERROXIDASE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CP</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/766?start=-3&limit=10&highlight=766">3q24-q25.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:149162414-149221829&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">3:149,162,414-149,221,829</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/766?start=-3&limit=10&highlight=766">
|
|
3q24-q25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Aceruloplasminemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/604290"> 604290 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/117700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/117700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>The CP gene encodes ceruloplasmin (also known as ferroxidase; iron (II):oxygen oxidoreductase, <a href="https://enzyme.expasy.org/EC/1.16.3.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.16.3.1</a>), a blue alpha-2-glycoprotein that binds 90 to 95% of plasma copper and has 6 or 7 cupric ions per molecule. It is involved in peroxidation of Fe(II) transferrin to form Fe(III) transferrin. Like transferrin (TF; <a href="/entry/190000">190000</a>), ceruloplasmin is a plasma metalloprotein (<a href="#41" class="mim-tip-reference" title="Takahashi, N., Ortel, T. L., Putnam, F. W. <strong>Single-chain structure of human ceruloplasmin: the complete amino acid sequence of the whole molecule.</strong> Proc. Nat. Acad. Sci. 81: 390-394, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6582496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6582496</a>] [<a href="https://doi.org/10.1073/pnas.81.2.390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6582496">Takahashi et al., 1984</a>). CP is a plasma membrane glycoprotein that acts as a ferroxidase to facilitate ferroportin (SLC40A1; <a href="/entry/604653">604653</a>)-mediated cellular iron export (summary by <a href="#5" class="mim-tip-reference" title="Di Meo, I., Tiranti, V. <strong>Classification and molecular pathogenesis of NBIA syndromes.</strong> Europ. J. Paediat. Neurol. 22: 272-284, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29409688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29409688</a>] [<a href="https://doi.org/10.1016/j.ejpn.2018.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29409688">Di Meo and Tiranti, 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6582496+29409688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Human ceruloplasmin is composed of a single polypeptide chain of 1,046 amino acids, with a molecular mass of 132 kD (<a href="#41" class="mim-tip-reference" title="Takahashi, N., Ortel, T. L., Putnam, F. W. <strong>Single-chain structure of human ceruloplasmin: the complete amino acid sequence of the whole molecule.</strong> Proc. Nat. Acad. Sci. 81: 390-394, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6582496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6582496</a>] [<a href="https://doi.org/10.1073/pnas.81.2.390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6582496">Takahashi et al., 1984</a>). <a href="#14" class="mim-tip-reference" title="Koschinsky, M. L., Funk, W. D., van Oost, B. A., MacGillivray, R. T. A. <strong>Complete cDNA sequence of human preceruloplasmin.</strong> Proc. Nat. Acad. Sci. 83: 5086-5090, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2873574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2873574</a>] [<a href="https://doi.org/10.1073/pnas.83.14.5086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2873574">Koschinsky et al. (1986)</a> reported the nucleotide sequence of human preceruloplasmin cDNA. The mRNA from human liver was found to be 3,700 nucleotides in size. Sequence homology with factor VIII was demonstrated. The protein is synthesized in hepatocytes and secreted into the serum with copper incorporated during biosynthesis. Failure to incorporate copper during synthesis results in the secretion of an apoprotein devoid of copper, termed apoceruloplasmin (<a href="#2" class="mim-tip-reference" title="Culotta, V. C., Gitlin, J. D. <strong>Disorders of copper transport. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 3105-3126."None>Culotta and Gitlin, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6582496+2873574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Yang, F., Friedrichs, W. E., Cupples, R. L., Bonifacio, M. J., Sanford, J. A., Horton, W. A., Bowman, B. H. <strong>Human ceruloplasmin: tissue-specific expression of transcripts produced by alternative splicing.</strong> J. Biol. Chem. 265: 10780-10785, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2355023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2355023</a>]" pmid="2355023">Yang et al. (1990)</a> demonstrated 2 forms of CP which differed by the presence or absence of 12 nucleotide bases encoding a deduced sequence of gly-glu-tyr-pro in the C-terminal region of the molecule. Alternative splicing was the apparent explanation, and differential expression of the 2 transcripts in different tissues with production of isoforms from a single gene was demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2355023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Klomp, L. W. J., Gitlin, J. D. <strong>Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.</strong> Hum. Molec. Genet. 5: 1989-1996, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968753</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968753">Klomp and Gitlin (1996)</a> analyzed ceruloplasmin gene expression in the brain. In situ hybridization utilizing ceruloplasmin cDNA clones revealed abundant expression in specific populations of glial cells within the brain microvasculature, surrounding dopaminergic melanized neurons in the substantia nigra, and within the inner nuclear layer of the retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Di Meo, I., Tiranti, V. <strong>Classification and molecular pathogenesis of NBIA syndromes.</strong> Europ. J. Paediat. Neurol. 22: 272-284, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29409688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29409688</a>] [<a href="https://doi.org/10.1016/j.ejpn.2018.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29409688">Di Meo and Tiranti (2018)</a> stated that CP is the only known ferroxidase expressed by astrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29409688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#3" class="mim-tip-reference" title="Daimon, M., Yamatani, K., Igarashi, M., Fukase, N., Kawanami, T., Kato, T., Tominaga, M., Sasaki, H. <strong>Fine structure of the human ceruloplasmin gene.</strong> Biochem. Biophys. Res. Commun. 208: 1028-1035, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702601</a>] [<a href="https://doi.org/10.1006/bbrc.1995.1437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7702601">Daimon et al. (1995)</a> determined that the ceruloplasmin gene contains 19 exons and spans approximately 50 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#12" class="mim-tip-reference" title="Klomp, L. W. J., Gitlin, J. D. <strong>Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.</strong> Hum. Molec. Genet. 5: 1989-1996, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968753</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968753">Klomp and Gitlin (1996)</a> concluded that glial cell-specific ceruloplasmin gene expression is essential for iron homeostasis and neuronal survival in the human central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Individuals with hereditary ceruloplasmin deficiency have profound iron accumulation in most tissues, suggesting that ceruloplasmin is important for normal release of cellular iron (<a href="#26" class="mim-tip-reference" title="Mukhopadhyay, C. K., Attieh, Z. K., Fox, P. L. <strong>Role of ceruloplasmin in cellular iron uptake.</strong> Science 279: 714-717, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445478</a>] [<a href="https://doi.org/10.1126/science.279.5351.714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9445478">Mukhopadhyay et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9445478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#45" class="mim-tip-reference" title="Weitkamp, L. R. <strong>Evidence for linkage between the loci for transferrin and ceruloplasmin in man.</strong> Ann. Hum. Genet. 47: 293-297, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651218</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1983.tb00999.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6651218">Weitkamp (1983)</a> found a peak lod score of 3.5 at theta about 0.15 for linkage of CP to TF, which is located at 3q21. Homology argues for this linkage; TF and CP are linked in cattle with a lod score of 11.3 at 20% recombination frequency in sires (<a href="#16" class="mim-tip-reference" title="Larsen, B. <strong>On linkage relations of ceruloplasmin polymorphism (Cp) in cattle.</strong> Anim. Blood Groups Biochem. Genet. 8: 111-113, 1977."None>Larsen, 1977</a>). By Southern blot analysis of human-mouse somatic cell hybrids, <a href="#27" class="mim-tip-reference" title="Naylor, S. L., Yang, F., Cutshaw, S., Barnett, D. R., Bowman, B. H. <strong>Mapping ceruloplasmin cDNA to human chromosome 3. (Abstract)</strong> Cytogenet. Cell Genet. 40: 711, 1985."None>Naylor et al. (1985)</a> mapped the CP gene to chromosome 3. <a href="#33" class="mim-tip-reference" title="Royle, N. J., Irwin, D. M., Koschinsky, M. L., MacGillivray, R. T. A., Hamerton, J. L. <strong>Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively.</strong> Somat. Cell Molec. Genet. 13: 285-292, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3474786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3474786</a>] [<a href="https://doi.org/10.1007/BF01535211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3474786">Royle et al. (1987)</a> localized the CP gene to 3q21-q24 by analysis of somatic cell hybrid DNAs and in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6651218+3474786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Riddell, D. C., Wang, H., Royle, N. J., Nigli, M., Guinto, E., Kochinsky, M. L., Irwin, D. M., Cool, D., MacGillivray, R. T. A., Hamerton, J. L. <strong>Regional assignment for the human genes encoding FII, FV, FXIII, ceruloplasmin and pseudoceruloplasmin. (Abstract)</strong> Cytogenet. Cell Genet. 46: 682, 1987."None>Riddell et al. (1987)</a> identified a ceruloplasmin pseudogene on chromosome 8. <a href="#13" class="mim-tip-reference" title="Koschinsky, M. L., Chow, B. K.-C., Schwartz, J., Hamerton, J. L., MacGillivray, R. T. A. <strong>Isolation and characterization of a processed gene for human ceruloplasmin.</strong> Biochemistry 26: 7760-7767, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3427102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3427102</a>] [<a href="https://doi.org/10.1021/bi00398a034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3427102">Koschinsky et al. (1987)</a> isolated a processed gene for human ceruloplasmin and mapped it to chromosome 8 by somatic cell hybridization. <a href="#44" class="mim-tip-reference" title="Wang, H., Koschinsky, M., Hamerton, J. L. <strong>Localization of the processed gene for human ceruloplasmin to chromosome region 8q21.13-q23.1 by in situ hybridization.</strong> Cytogenet. Cell Genet. 47: 230-231, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3416657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3416657</a>] [<a href="https://doi.org/10.1159/000132556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3416657">Wang et al. (1988)</a> localized the processed pseudogene further to 8q21.13-q23.1 by in situ hybridization. They pointed out that like all other processed pseudogenes described to date, the gene is located on a chromosome different from the parent gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3416657+3427102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#37" class="mim-tip-reference" title="Shreffler, D. C., Brewer, G. J., Gall, J. C., Honeyman, M. S. <strong>Electrophoretic variation in human serum ceruloplasmin: a new genetic polymorphism.</strong> Biochem. Genet. 1: 101-116, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4180112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4180112</a>] [<a href="https://doi.org/10.1007/BF00486512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4180112">Shreffler et al. (1967)</a> identified at least 3 CP variants determined by codominant alleles by starch gel electrophoresis. <a href="#23" class="mim-tip-reference" title="Mohrenweiser, H. W., Decker, R. S. <strong>Identification of several electrophoretic variants of human ceruloplasmin including CpMichigan, a new polymorphism.</strong> Hum. Hered. 32: 369-373, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7152528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7152528</a>] [<a href="https://doi.org/10.1159/000153326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7152528">Mohrenweiser and Decker (1982)</a> identified several more electrophoretic variants of ceruloplasmin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4180112+7152528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Data on gene frequencies of allelic variants were tabulated by <a href="#32" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p><strong><em>Aceruloplasminemia</em></strong></p><p>
|
|
In a Japanese woman with aceruloplasminemia (ACEP; <a href="/entry/604290">604290</a>), originally reported by <a href="#22" class="mim-tip-reference" title="Miyajima, H., Nishimura, Y., Mizoguchi, K., Sakamoto, M., Shimizu, T., Honda, N. <strong>Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.</strong> Neurology 37: 761-767, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3574673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3574673</a>] [<a href="https://doi.org/10.1212/wnl.37.5.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3574673">Miyajima et al. (1987)</a>, <a href="#10" class="mim-tip-reference" title="Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T. A., Gitlin, J. D. <strong>Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.</strong> Proc. Nat. Acad. Sci. 92: 2539-2543, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7708681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7708681</a>] [<a href="https://doi.org/10.1073/pnas.92.7.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7708681">Harris et al. (1995)</a> identified a homozygous frameshift mutation in the CP gene (<a href="#0002">117700.0002</a>), resulting in a truncated open reading frame after 445 amino acids. The patient's asymptomatic daughter, who had a 50% decrease in ceruloplasmin levels, was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7708681+3574673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Japanese family with ACEP reported by <a href="#24" class="mim-tip-reference" title="Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., Yanagisawa, N. <strong>Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.</strong> Ann. Neurol. 37: 646-656, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7755360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7755360</a>] [<a href="https://doi.org/10.1002/ana.410370515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7755360">Morita et al. (1995)</a>, <a href="#47" class="mim-tip-reference" title="Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S., Shimizu, N., Yanagisawa, N. <strong>A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.</strong> Nature Genet. 9: 267-272, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539672</a>] [<a href="https://doi.org/10.1038/ng0395-267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539672">Yoshida et al. (1995)</a> demonstrated a homozygous splice site mutation in the ceruloplasmin gene (<a href="#0001">117700.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7539672+7755360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 45-year-old Japanese woman, born of consanguineous parents, with ACEP, <a href="#42" class="mim-tip-reference" title="Takahashi, Y., Miyajima, H., Shirabe, S., Nagataki, S., Suenaga, A., Gitlin, J. D. <strong>Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.</strong> Hum. Molec. Genet. 5: 81-84, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789443</a>] [<a href="https://doi.org/10.1093/hmg/5.1.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789443">Takahashi et al. (1996)</a> identified a homozygous nonsense mutation in the CP gene (W858X; <a href="#0003">117700.0003</a>). The patient's younger brother, who had diabetes and retinal degeneration without other neurologic deficits, was also homozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the 2 brothers with ACEP reported by <a href="#18" class="mim-tip-reference" title="Logan, J. I., Harveyson, K. B., Wisdom, G. B., Hughes, A. E., Archbold, G. P. R. <strong>Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.</strong> Quart. J. Med. 87: 663-670, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7820540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7820540</a>]" pmid="7820540">Logan et al. (1994)</a>, <a href="#9" class="mim-tip-reference" title="Harris, Z. L., Migas, M. C., Hughes, A. E., Logan, J. I., Gitlin, J. D. <strong>Familial dementia due to a frameshift mutation in the caeruloplasmin gene.</strong> Quart. J. Med. 89: 355-359, 1996."None>Harris et al. (1996)</a> found homozygosity for a 1-bp deletion (c.2389delG) in exon 13 of the CP gene (<a href="#0004">117700.0004</a>). The nucleotide sequence surrounded this deletion site (TGGAGA) corresponded to a consensus sequence 'hotspot' for nucleotide deletions (<a href="#15" class="mim-tip-reference" title="Krawczak, M., Cooper, D. N. <strong>Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.</strong> Hum. Genet. 86: 425-441, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2016084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2016084</a>] [<a href="https://doi.org/10.1007/BF00194629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2016084">Krawczak and Cooper, 1991</a>). The nucleotide deletion resulted in a frameshift with change of 11 amino acids and a premature stop codon at codon 789. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7820540+2016084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 56-year-old Japanese man, born of consanguineous parents, with ACEP, <a href="#28" class="mim-tip-reference" title="Okamoto, N., Wada, S., Oga, T., Kawabata, Y., Baba, Y., Habu, D., Takeda, Z., Wada, Y. <strong>Hereditary ceruloplasmin deficiency with hemosiderosis.</strong> Hum. Genet. 97: 755-758, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8641692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8641692</a>] [<a href="https://doi.org/10.1007/BF02346185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8641692">Okamoto et al. (1996)</a> identified a homozygous frameshift mutation in the CP gene (<a href="#0005">117700.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 12 individuals from 10 non-Japanese families with ACEP, <a href="#43" class="mim-tip-reference" title="Vila Cuenca, M., Marchi, G., Barque, A., Esteban-Jurado, C., Marchetto, A., Giorgetti, A., Chelban, V., Houlden, H., Wood, N. W., Piubelli, C., Dorigatti Borges, M., Martins de Albuquerque, D., and 17 others. <strong>Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia: atypical anemia as a clue for an early diagnosis.</strong> Int. J. Molec. Sci. 21: 2374, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32235485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32235485</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32235485[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3390/ijms21072374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32235485">Vila Cuenca et al. (2020)</a> identified homozygous or compound heterozygous mutations in the CP gene (see, e.g., <a href="#0006">117700.0006</a>). There were 6 missense, 3 frameshifts, and 3 splice site mutations. An additional patient (a 40-year-old Polish woman, family 5) carried a heterozygous H130P variant; the authors noted that they could not exclude the presence of an additional CP mutation. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32235485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="evolution" class="mim-anchor"></a>
|
|
<h4 href="#mimEvolutionFold" id="mimEvolutionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimEvolutionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Evolution</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimEvolutionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Internal duplication is a method of evolution of the genome illustrated by ceruloplasmin (<a href="#6" class="mim-tip-reference" title="Dwulet, F. E., Putnam, F. W. <strong>Internal duplication and evolution of human ceruloplasmin.</strong> Proc. Nat. Acad. Sci. 78: 2805-2809, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6942404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6942404</a>] [<a href="https://doi.org/10.1073/pnas.78.5.2805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6942404">Dwulet and Putnam, 1981</a>). From internal homology of amino acid structure, <a href="#40" class="mim-tip-reference" title="Takahashi, N., Bauman, R. A., Ortel, T. L., Dwulet, F. E., Wang, C.-C., Putnam, F. W. <strong>Internal triplication in the structure of human ceruloplasmin.</strong> Proc. Nat. Acad. Sci. 80: 115-119, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6571985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6571985</a>] [<a href="https://doi.org/10.1073/pnas.80.1.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6571985">Takahashi et al. (1983)</a> concluded that the ceruloplasmin molecule evolved by tandem triplication of ancestral genes. From a computer search of the protein and nucleic acid sequence data banks of the National Biomedical Research Foundation, <a href="#1" class="mim-tip-reference" title="Church, W. R., Jernigan, R. L., Toole, J., Hewick, R. M., Knopf, J., Knutson, G. J., Nesheim, M. E., Mann, K. G., Fass, D. N. <strong>Coagulation factors V and VIII and ceruloplasmin constitute a family of structurally related proteins.</strong> Proc. Nat. Acad. Sci. 81: 6934-6937, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6438625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6438625</a>] [<a href="https://doi.org/10.1073/pnas.81.22.6934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6438625">Church et al. (1984)</a> found evidence that factor V (<a href="/entry/612309">612309</a>), factor VIII (<a href="/entry/300841">300841</a>), and ceruloplasmin may have had a common evolutionary origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6438625+6942404+6571985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>To elucidate the role of ceruloplasmin in iron homeostasis, <a href="#8" class="mim-tip-reference" title="Harris, Z. L., Durley, A. P., Man, T. K., Gitlin, J. D. <strong>Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.</strong> Proc. Nat. Acad. Sci. 96: 10812-10817, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10485908[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.19.10812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10485908">Harris et al. (1999)</a> created an animal model of aceruloplasminemia by disrupting the murine Cp gene. Although normal at birth, Cp -/- mice demonstrated progressive accumulation of iron such that by 1 year of age all animals had a prominent elevation of serum keratin and a 3- to 6-fold increase in the iron content of the liver and spleen. Histologic analysis of affected tissues in these mice showed abundant iron stores within reticuloendothelial cells and hepatocytes. Ferrokinetic studies in Cp +/+ and Cp -/- mice revealed equivalent rates of iron absorption and plasma iron turnover, suggesting that iron accumulation results from altered compartmentalization within the iron cycle. Consistent with this concept, Cp -/- mice showed no abnormalities in cellular iron uptake but a striking impairment in the movement of iron out of reticuloendothelial cells and hepatocytes. The findings demonstrated an essential physiologic role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Mechanisms of brain and retinal iron homeostasis became subjects of increased interest after the discovery of elevated iron levels in brains of patients with Alzheimer disease (<a href="/entry/104300">104300</a>) and retinas of patients with age-related macular degeneration (<a href="/entry/603075">603075</a>). To determine whether Cp and its homolog hephestin (HEPH; <a href="/entry/300167">300167</a>) are important for retinal iron homeostasis, <a href="#7" class="mim-tip-reference" title="Hahn, P., Qian, Y., Dentchev, T., Chen, L., Beard, J., Harris, Z. L., Dunaief, J. L. <strong>Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.</strong> Proc. Nat. Acad. Sci. 101: 13850-13855, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15365174[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0405146101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15365174">Hahn et al. (2004)</a> studied retinas from mice deficient in ceruloplasmin and/or hephestin. In normal mice, Cp and Heph localized to Muller glia and retinal pigment epithelium, a blood-brain barrier. Mice deficient in both Cp and Heph, but not each individually, had a striking, age-dependent increase in iron of the retinal pigment epithelium and retina. The iron storage protein ferritin (see <a href="/entry/134790">134790</a>) was also increased in the doubly null retinas. After retinal iron levels had increased, mice null for both Cp and Heph had age-dependent retinal pigment epithelium hypertrophy, hypoplasia, and death, photoreceptor degeneration, and subretinal neovascularization, providing a model of some features of the human retinal diseases aceruloplasminemia and age-related macular degeneration. These pathologic changes indicated that ceruloplasmin and hephestin are critical for central nervous system iron homeostasis and that loss of both in the mouse leads to age-dependent retinal neurodegeneration, providing a model that can be used to test therapeutic efficacy of iron chelators and antiangiogenic agents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Stasi, K., Nagel, D., Yang, X., Ren, L., Mittag, T., Danias, J. <strong>Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.</strong> Invest. Ophthal. Vis. Sci. 48: 727-732, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17251471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17251471</a>] [<a href="https://doi.org/10.1167/iovs.06-0497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17251471">Stasi et al. (2007)</a> found that Cp mRNA and Cp protein were upregulated in the retinas of glaucomatous DBA/2 mice. Upregulation of Cp occurred at approximately the time of extensive retinal ganglion cell (RGC) death and increased with increasing age in the retinas but not in the brains of the animals. No age-related Cp upregulation was detected in the reference normal mouse strain (C57BL/6), which could develop significant nonglaucomatous RGC loss toward the end of the same time frame. Cp upregulation was also detected in most eyes from patients with glaucoma. Cp upregulation was localized to the Muller cells within the retinas and in the area of the inner limiting membrane. <a href="#38" class="mim-tip-reference" title="Stasi, K., Nagel, D., Yang, X., Ren, L., Mittag, T., Danias, J. <strong>Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.</strong> Invest. Ophthal. Vis. Sci. 48: 727-732, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17251471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17251471</a>] [<a href="https://doi.org/10.1167/iovs.06-0497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17251471">Stasi et al. (2007)</a> concluded that the timing of this upregulation suggested that it may represent a reactive change of the retina in response to a noxious stimulus or to RGC death. <a href="#38" class="mim-tip-reference" title="Stasi, K., Nagel, D., Yang, X., Ren, L., Mittag, T., Danias, J. <strong>Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.</strong> Invest. Ophthal. Vis. Sci. 48: 727-732, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17251471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17251471</a>] [<a href="https://doi.org/10.1167/iovs.06-0497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17251471">Stasi et al. (2007)</a> hypothesized that such Cp upregulation might represent a protective mechanism within the retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17251471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="allelicVariants" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
|
|
</span>
|
|
<strong>6 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/117700" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=117700[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
|
|
|
|
</div>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0001" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CP, IVSAS, G-A, -1
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs386134142 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386134142;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs386134142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs386134142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019114" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019114" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019114</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with hypo- or aceruloplasminemia (<a href="/entry/604290">604290</a>) reported by <a href="#24" class="mim-tip-reference" title="Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., Yanagisawa, N. <strong>Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.</strong> Ann. Neurol. 37: 646-656, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7755360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7755360</a>] [<a href="https://doi.org/10.1002/ana.410370515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7755360">Morita et al. (1995)</a>, <a href="#47" class="mim-tip-reference" title="Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S., Shimizu, N., Yanagisawa, N. <strong>A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.</strong> Nature Genet. 9: 267-272, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539672</a>] [<a href="https://doi.org/10.1038/ng0395-267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539672">Yoshida et al. (1995)</a> demonstrated a G-to-A transition at the splice acceptor site, converting the canonical AG to AA immediately before the exon beginning with nucleotide 3019 of the cDNA. The parents were first cousins, thus indicating autosomal recessive inheritance, which was supported by the demonstration of homozygosity in the affected sibs. In this disorder, there is no copper overload. One of the 4 aceruloplasmic sibs was free of neurologic symptoms although he showed iron deposition. The proband from whom information on the distribution of iron deposits in the brain, liver, pancreas, heart, kidney, spleen, and thyroid gland was obtained had died at the age of 60 years, having shown dementia in the advanced stages of his disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7539672+7755360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0002" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CP, 5-BP INS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386134145 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386134145;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs386134145?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs386134145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs386134145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019118" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019118" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019118</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese woman with aceruloplasminemia (ACEP; <a href="/entry/604290">604290</a>) previously reported by <a href="#22" class="mim-tip-reference" title="Miyajima, H., Nishimura, Y., Mizoguchi, K., Sakamoto, M., Shimizu, T., Honda, N. <strong>Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.</strong> Neurology 37: 761-767, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3574673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3574673</a>] [<a href="https://doi.org/10.1212/wnl.37.5.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3574673">Miyajima et al. (1987)</a>, <a href="#10" class="mim-tip-reference" title="Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T. A., Gitlin, J. D. <strong>Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.</strong> Proc. Nat. Acad. Sci. 92: 2539-2543, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7708681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7708681</a>] [<a href="https://doi.org/10.1073/pnas.92.7.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7708681">Harris et al. (1995)</a> identified a homozygous 5-bp insertion in the CP gene. Although Southern blot analysis of the patient's DNA was normal, PCR amplification of 18 of the 19 exons composing the CP gene revealed a size difference in exon 7. Sequencing of this exon uncovered a 5-bp insertion at amino acid 410, resulting in a frameshift mutation and a truncated open reading frame after 445 amino acids. The patient's asymptomatic daughter, who had a 50% decrease in ceruloplasmin levels, was heterozygous for mutation. The patient was a Japanese woman, 61 years old at the time of study, who had had retinal degeneration and blepharospasm for the previous 10 years. She had also developed cogwheel rigidity and dysarthria. Her younger sister, who was asymptomatic at the time of the original presentation despite undetectable CP, was 51 years old and had recent onset of retinal degeneration and basal ganglia symptoms. In each case, the absence of serum CP was associated with mild anemia, low serum iron, and elevated serum ferritin. Magnetic resonance imaging studies demonstrated changes in the basal ganglia suggestive of elevated iron content in the brain. Liver biopsy confirmed the presence of excess iron. The study by <a href="#10" class="mim-tip-reference" title="Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T. A., Gitlin, J. D. <strong>Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.</strong> Proc. Nat. Acad. Sci. 92: 2539-2543, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7708681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7708681</a>] [<a href="https://doi.org/10.1073/pnas.92.7.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7708681">Harris et al. (1995)</a> demonstrated the essential role of ceruloplasmin in human biology and identified aceruloplasminemia as an autosomal recessive disorder of iron metabolism. The findings supported previous studies that identified ceruloplasmin as a ferroxidase (<a href="#29" class="mim-tip-reference" title="Osaki, S., Johnson, D. A., Frieden, E. <strong>The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.</strong> J. Biol. Chem. 241: 2746-2751, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5912351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5912351</a>]" pmid="5912351">Osaki et al., 1966</a>) with a role in the ferric iron uptake by transferrin. Consistent with this concept, the anemia that develops in copper-deficient animals is unresponsive to iron but is correctable by ceruloplasmin administration (<a href="#17" class="mim-tip-reference" title="Lee, G. R., Nacht, S., Lukens, J. N., Cartwright, G. E. <strong>Iron metabolism in copper-deficient swine.</strong> J. Clin. Invest. 47: 2058-2069, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5675426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5675426</a>] [<a href="https://doi.org/10.1172/JCI105891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5675426">Lee et al., 1968</a>). It is also consistent with the essential role of a homologous copper oxidase in iron metabolism in yeast. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5675426+7708681+3574673+5912351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0003" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CP, TRP858TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909579 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909579;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121909579?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019120 OR RCV000760448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019120, RCV000760448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019120...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 45-year-old Japanese woman, born of consanguineous parents, with aceruloplasminemia (ACEP; <a href="/entry/604290">604290</a>), <a href="#42" class="mim-tip-reference" title="Takahashi, Y., Miyajima, H., Shirabe, S., Nagataki, S., Suenaga, A., Gitlin, J. D. <strong>Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.</strong> Hum. Molec. Genet. 5: 81-84, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789443</a>] [<a href="https://doi.org/10.1093/hmg/5.1.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789443">Takahashi et al. (1996)</a> identified a homozygous G-to-A transition in exon 15 of the CP gene, resulting in a trp858-to-ter (W858X) substitution. The patient's younger brother, who had diabetes and retinal degeneration without other neurologic deficits, was also homozygous for the mutation. The proband was a 45-year-old woman who came to attention after a several-month history of difficulty in walking and slurring of speech. She had previously been in excellent health with the exception of insulin-dependent diabetes mellitus beginning at age 31 years. Physical examination revealed ataxic gait, scanning speech, and retinal degeneration. MRI of the brain was consistent with increased basal ganglia iron content, and laboratory studies revealed a low serum iron concentration and no detectable serum ceruloplasmin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Heterozygous Variant</em></strong></p><p>
|
|
In 3 individuals from 2 unrelated Japanese families with cerebellar ataxia with hypoceruloplasminemia, <a href="#21" class="mim-tip-reference" title="Miyajima, H., Kono, S., Takahashi, Y., Sugimoto, M., Sakamoto, M., Sakai, N. <strong>Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.</strong> Neurology 57: 2205-2210, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11756598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11756598</a>] [<a href="https://doi.org/10.1212/wnl.57.12.2205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11756598">Miyajima et al. (2001)</a> identified a heterozygous W858X mutation in the CP gene. The patients had onset of cerebellar dysfunction in the fourth decade. Features included relatively nondisabling gait ataxia and dysarthria, as well as hyperreflexia. Brain and abdominal MRI showed cerebellar atrophy and no low-signal intensities in the basal ganglia, thalamus, and liver. The deficiency in serum ceruloplasmin was partial; protein concentrations and ferroxidase activities ranged from 36 to 41% of control values. Serum iron concentration and transferrin saturation were normal. At autopsy, pathologic and biochemical examinations showed marked loss of Purkinje cells, a large iron deposition in the cerebellum, and small depositions in the basal ganglia, thalamus, and liver. Cerebellar ataxia reflected the site of iron deposition. The authors concluded that heterozygosity for mutation of the CP gene can result in cerebellar ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11756598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0004" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CERULOPLASMIN BELFAST
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CP, 1-BP DEL, 2389G
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs386134149 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386134149;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs386134149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs386134149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019116 OR RCV000019117" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019116, RCV000019117" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019116...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with aceruloplasminemia (ACEP; <a href="/entry/604290">604290</a>) reported by <a href="#18" class="mim-tip-reference" title="Logan, J. I., Harveyson, K. B., Wisdom, G. B., Hughes, A. E., Archbold, G. P. R. <strong>Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.</strong> Quart. J. Med. 87: 663-670, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7820540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7820540</a>]" pmid="7820540">Logan et al. (1994)</a>, <a href="#9" class="mim-tip-reference" title="Harris, Z. L., Migas, M. C., Hughes, A. E., Logan, J. I., Gitlin, J. D. <strong>Familial dementia due to a frameshift mutation in the caeruloplasmin gene.</strong> Quart. J. Med. 89: 355-359, 1996."None>Harris et al. (1996)</a> found homozygosity for a 1-bp deletion (c.2389delG) in exon 13 of the CP gene. The nucleotide deletion resulted in a frameshift with change of 11 amino acids and a premature stop codon at codon 789. The nucleotide sequence surrounding this deletion site (TGGAGA) corresponded to a consensus sequence 'hotspot' for nucleotide deletions (<a href="#15" class="mim-tip-reference" title="Krawczak, M., Cooper, D. N. <strong>Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.</strong> Hum. Genet. 86: 425-441, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2016084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2016084</a>] [<a href="https://doi.org/10.1007/BF00194629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2016084">Krawczak and Cooper, 1991</a>). The proband had been admitted to hospital at the age of 49 years with a 6-week history of thirst and polyuria and a 2-week history of progressive confusion. Neurologic examination was normal. He was started on a diabetic diet and oral sulfonylurea. At the age of 52, he suddenly left his work one day and was found at home the next day sitting in a chair with the appearance of not having been to bed. When asked why he was not at work he replied, 'What work?' Dementia progressed thereafter, confusion occurring episodically. The younger brother, who worked as a railway laborer, developed diabetes and mental slowing at the age of 47 years. The symptoms seemed to have developed over a period of days and were progressive thereafter. The abnormal ceruloplasmin in this case was referred to as ceruloplasmin Belfast. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7820540+2016084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0005" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CP, 1-BP INS, 184A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386134143 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386134143;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs386134143?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs386134143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs386134143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019122" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019122" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019122</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 56-year-old Japanese man, born of consanguineous parents, with hereditary ceruloplasmin deficiency (ACEP; <a href="/entry/604290">604290</a>), <a href="#28" class="mim-tip-reference" title="Okamoto, N., Wada, S., Oga, T., Kawabata, Y., Baba, Y., Habu, D., Takeda, Z., Wada, Y. <strong>Hereditary ceruloplasmin deficiency with hemosiderosis.</strong> Hum. Genet. 97: 755-758, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8641692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8641692</a>] [<a href="https://doi.org/10.1007/BF02346185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8641692">Okamoto et al. (1996)</a> identified a homozygous 1-bp insertion (c.184insA) in the CP gene, resulting in a frameshift and premature termination. The patient had systemic hemosiderosis, diabetes mellitus, pigment degeneration of the retina, and neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0006" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CP, IVS10DS, G-A, +5
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs768510247 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs768510247;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs768510247?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs768510247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs768510247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003985033" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003985033" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003985033</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected men from 2 unrelated Indian families (families 3 and 4) with aceruloplasminemia (ACEP; <a href="/entry/604290">604290</a>), <a href="#43" class="mim-tip-reference" title="Vila Cuenca, M., Marchi, G., Barque, A., Esteban-Jurado, C., Marchetto, A., Giorgetti, A., Chelban, V., Houlden, H., Wood, N. W., Piubelli, C., Dorigatti Borges, M., Martins de Albuquerque, D., and 17 others. <strong>Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia: atypical anemia as a clue for an early diagnosis.</strong> Int. J. Molec. Sci. 21: 2374, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32235485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32235485</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32235485[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3390/ijms21072374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32235485">Vila Cuenca et al. (2020)</a> identified a homozygous G-T transition in intron 10 of the CP gene (c.1864+5G-A), predicted to result in a splicing abnormality. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32235485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Decker1978" class="mim-tip-reference" title="Decker, R. S., Mohrenweiser, H. W. <strong>Identification of a new variant of human ceruloplasmin. (Abstract)</strong> Am. J. Hum. Genet. 30: 26A, 1978.">Decker and Mohrenweiser (1978)</a>; <a href="#Kellermann1972" class="mim-tip-reference" title="Kellermann, G., Walter, H. <strong>On the population genetics of the ceruloplasmin polymorphism.</strong> Humangenetik 15: 84-86, 1972.">Kellermann and Walter (1972)</a>; <a href="#McCombs1970" class="mim-tip-reference" title="McCombs, M. L., Bowman, B. H., Alperin, J. B. <strong>A new ceruloplasmin variant, CP Galveston.</strong> Clin. Genet. 1: 30-34, 1970.">McCombs
|
|
et al. (1970)</a>; <a href="#McCombs1969" class="mim-tip-reference" title="McCombs, M. L., Bowman, B. H. <strong>Demonstration of inherited ceruloplasmin variants in human serum by acrylamide electrophoresis.</strong> Tex. Rep. Biol. Med. 27: 769-772, 1969.">McCombs and Bowman (1969)</a>; <a href="#Morita1992" class="mim-tip-reference" title="Morita, H., Inoue, A., Yanagisawa, N. <strong>A case with ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain.</strong> Rinsho Shinkeigaku 32: 483-487, 1992.">Morita et al. (1992)</a>; <a href="#Poulik1968" class="mim-tip-reference" title="Poulik, M. D. <strong>Heterogeneity and structure of ceruloplasmin.</strong> Ann. N.Y. Acad. Sci. 151: 476-501, 1968.">Poulik (1968)</a>; <a href="#Schwartzman1980" class="mim-tip-reference" title="Schwartzman, A. L., Gaitskhoki, V. S., L'vov, V. M., Nosikov, V. V., Braga, E. M., Frolova, L. Y., Skobeleva, N. A., Kisselev, L. L., Neifakh, S. A. <strong>Complex molecular structure of the gene for rat ceruloplasmin.</strong> Gene 11: 1-10, 1980.">Schwartzman et al. (1980)</a>; <a href="#Shokeir1967" class="mim-tip-reference" title="Shokeir, M. H. K., Shreffler, D. C., Gall, J. C., Jr. <strong>Further electrophoretic variation in human ceruloplasmin. (Abstract)</strong> American Society of Human Genetics Meeting, Toronto, December 1967.">Shokeir et al. (1967)</a>; <a href="#Shokeir1970" class="mim-tip-reference" title="Shokeir, M. H. K., Shreffler, D. C. <strong>Two new ceruloplasmin variants in Negroes--data on three populations.</strong> Biochem. Genet. 4: 517-528, 1970.">Shokeir and Shreffler (1970)</a>; <a href="#Stolc1984" class="mim-tip-reference" title="Stolc, V. <strong>Genetic polymorphism of ceruloplasmin in the rat.</strong> J. Hered. 75: 414-415, 1984.">Stolc (1984)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Church1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Church, W. R., Jernigan, R. L., Toole, J., Hewick, R. M., Knopf, J., Knutson, G. J., Nesheim, M. E., Mann, K. G., Fass, D. N.
|
|
<strong>Coagulation factors V and VIII and ceruloplasmin constitute a family of structurally related proteins.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 6934-6937, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6438625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6438625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6438625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.81.22.6934" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Culotta2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Culotta, V. C., Gitlin, J. D.
|
|
<strong>Disorders of copper transport. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 3105-3126.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Daimon1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Daimon, M., Yamatani, K., Igarashi, M., Fukase, N., Kawanami, T., Kato, T., Tominaga, M., Sasaki, H.
|
|
<strong>Fine structure of the human ceruloplasmin gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 208: 1028-1035, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1995.1437" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Decker1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Decker, R. S., Mohrenweiser, H. W.
|
|
<strong>Identification of a new variant of human ceruloplasmin. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 30: 26A, 1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Di Meo2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di Meo, I., Tiranti, V.
|
|
<strong>Classification and molecular pathogenesis of NBIA syndromes.</strong>
|
|
Europ. J. Paediat. Neurol. 22: 272-284, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29409688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29409688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29409688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ejpn.2018.01.008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Dwulet1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dwulet, F. E., Putnam, F. W.
|
|
<strong>Internal duplication and evolution of human ceruloplasmin.</strong>
|
|
Proc. Nat. Acad. Sci. 78: 2805-2809, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6942404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6942404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6942404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.78.5.2805" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Hahn2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hahn, P., Qian, Y., Dentchev, T., Chen, L., Beard, J., Harris, Z. L., Dunaief, J. L.
|
|
<strong>Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 13850-13855, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15365174[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0405146101" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Harris1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harris, Z. L., Durley, A. P., Man, T. K., Gitlin, J. D.
|
|
<strong>Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 10812-10817, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10485908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10485908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10485908[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.96.19.10812" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Harris1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harris, Z. L., Migas, M. C., Hughes, A. E., Logan, J. I., Gitlin, J. D.
|
|
<strong>Familial dementia due to a frameshift mutation in the caeruloplasmin gene.</strong>
|
|
Quart. J. Med. 89: 355-359, 1996.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Harris1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T. A., Gitlin, J. D.
|
|
<strong>Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 2539-2543, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7708681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7708681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7708681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.92.7.2539" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Kellermann1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kellermann, G., Walter, H.
|
|
<strong>On the population genetics of the ceruloplasmin polymorphism.</strong>
|
|
Humangenetik 15: 84-86, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5046912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00273436" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Klomp1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Klomp, L. W. J., Gitlin, J. D.
|
|
<strong>Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.</strong>
|
|
Hum. Molec. Genet. 5: 1989-1996, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/5.12.1989" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Koschinsky1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Koschinsky, M. L., Chow, B. K.-C., Schwartz, J., Hamerton, J. L., MacGillivray, R. T. A.
|
|
<strong>Isolation and characterization of a processed gene for human ceruloplasmin.</strong>
|
|
Biochemistry 26: 7760-7767, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3427102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3427102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3427102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1021/bi00398a034" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Koschinsky1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Koschinsky, M. L., Funk, W. D., van Oost, B. A., MacGillivray, R. T. A.
|
|
<strong>Complete cDNA sequence of human preceruloplasmin.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 5086-5090, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2873574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2873574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2873574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.14.5086" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Krawczak1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krawczak, M., Cooper, D. N.
|
|
<strong>Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.</strong>
|
|
Hum. Genet. 86: 425-441, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2016084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2016084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2016084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00194629" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Larsen1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Larsen, B.
|
|
<strong>On linkage relations of ceruloplasmin polymorphism (Cp) in cattle.</strong>
|
|
Anim. Blood Groups Biochem. Genet. 8: 111-113, 1977.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Lee1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, G. R., Nacht, S., Lukens, J. N., Cartwright, G. E.
|
|
<strong>Iron metabolism in copper-deficient swine.</strong>
|
|
J. Clin. Invest. 47: 2058-2069, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5675426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5675426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5675426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI105891" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Logan1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Logan, J. I., Harveyson, K. B., Wisdom, G. B., Hughes, A. E., Archbold, G. P. R.
|
|
<strong>Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.</strong>
|
|
Quart. J. Med. 87: 663-670, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7820540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7820540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7820540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="McCombs1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCombs, M. L., Bowman, B. H., Alperin, J. B.
|
|
<strong>A new ceruloplasmin variant, CP Galveston.</strong>
|
|
Clin. Genet. 1: 30-34, 1970.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="McCombs1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCombs, M. L., Bowman, B. H.
|
|
<strong>Demonstration of inherited ceruloplasmin variants in human serum by acrylamide electrophoresis.</strong>
|
|
Tex. Rep. Biol. Med. 27: 769-772, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4190683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4190683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4190683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Miyajima2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miyajima, H., Kono, S., Takahashi, Y., Sugimoto, M., Sakamoto, M., Sakai, N.
|
|
<strong>Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.</strong>
|
|
Neurology 57: 2205-2210, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11756598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11756598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11756598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.57.12.2205" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Miyajima1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miyajima, H., Nishimura, Y., Mizoguchi, K., Sakamoto, M., Shimizu, T., Honda, N.
|
|
<strong>Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.</strong>
|
|
Neurology 37: 761-767, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3574673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3574673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3574673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.37.5.761" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Mohrenweiser1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mohrenweiser, H. W., Decker, R. S.
|
|
<strong>Identification of several electrophoretic variants of human ceruloplasmin including CpMichigan, a new polymorphism.</strong>
|
|
Hum. Hered. 32: 369-373, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7152528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7152528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7152528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000153326" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Morita1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., Yanagisawa, N.
|
|
<strong>Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.</strong>
|
|
Ann. Neurol. 37: 646-656, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7755360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7755360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7755360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410370515" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Morita1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morita, H., Inoue, A., Yanagisawa, N.
|
|
<strong>A case with ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain.</strong>
|
|
Rinsho Shinkeigaku 32: 483-487, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1458725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1458725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1458725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Mukhopadhyay1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mukhopadhyay, C. K., Attieh, Z. K., Fox, P. L.
|
|
<strong>Role of ceruloplasmin in cellular iron uptake.</strong>
|
|
Science 279: 714-717, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445478</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9445478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.279.5351.714" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Naylor1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Naylor, S. L., Yang, F., Cutshaw, S., Barnett, D. R., Bowman, B. H.
|
|
<strong>Mapping ceruloplasmin cDNA to human chromosome 3. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 711, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Okamoto1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okamoto, N., Wada, S., Oga, T., Kawabata, Y., Baba, Y., Habu, D., Takeda, Z., Wada, Y.
|
|
<strong>Hereditary ceruloplasmin deficiency with hemosiderosis.</strong>
|
|
Hum. Genet. 97: 755-758, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8641692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8641692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02346185" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Osaki1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Osaki, S., Johnson, D. A., Frieden, E.
|
|
<strong>The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.</strong>
|
|
J. Biol. Chem. 241: 2746-2751, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5912351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5912351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5912351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Poulik1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Poulik, M. D.
|
|
<strong>Heterogeneity and structure of ceruloplasmin.</strong>
|
|
Ann. N.Y. Acad. Sci. 151: 476-501, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4975696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4975696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4975696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1749-6632.1968.tb11909.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Riddell1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Riddell, D. C., Wang, H., Royle, N. J., Nigli, M., Guinto, E., Kochinsky, M. L., Irwin, D. M., Cool, D., MacGillivray, R. T. A., Hamerton, J. L.
|
|
<strong>Regional assignment for the human genes encoding FII, FV, FXIII, ceruloplasmin and pseudoceruloplasmin. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 682, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Roychoudhury1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roychoudhury, A. K., Nei, M.
|
|
<strong>Human Polymorphic Genes: World Distribution.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Royle1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Royle, N. J., Irwin, D. M., Koschinsky, M. L., MacGillivray, R. T. A., Hamerton, J. L.
|
|
<strong>Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively.</strong>
|
|
Somat. Cell Molec. Genet. 13: 285-292, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3474786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3474786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3474786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01535211" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Schwartzman1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwartzman, A. L., Gaitskhoki, V. S., L'vov, V. M., Nosikov, V. V., Braga, E. M., Frolova, L. Y., Skobeleva, N. A., Kisselev, L. L., Neifakh, S. A.
|
|
<strong>Complex molecular structure of the gene for rat ceruloplasmin.</strong>
|
|
Gene 11: 1-10, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6254847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6254847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6254847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0378-1119(80)90081-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Shokeir1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shokeir, M. H. K., Shreffler, D. C., Gall, J. C., Jr.
|
|
<strong>Further electrophoretic variation in human ceruloplasmin. (Abstract)</strong>
|
|
American Society of Human Genetics Meeting, Toronto, December 1967.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Shokeir1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shokeir, M. H. K., Shreffler, D. C.
|
|
<strong>Two new ceruloplasmin variants in Negroes--data on three populations.</strong>
|
|
Biochem. Genet. 4: 517-528, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5456439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5456439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5456439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00486602" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Shreffler1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shreffler, D. C., Brewer, G. J., Gall, J. C., Honeyman, M. S.
|
|
<strong>Electrophoretic variation in human serum ceruloplasmin: a new genetic polymorphism.</strong>
|
|
Biochem. Genet. 1: 101-116, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4180112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4180112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4180112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00486512" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Stasi2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stasi, K., Nagel, D., Yang, X., Ren, L., Mittag, T., Danias, J.
|
|
<strong>Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 727-732, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17251471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17251471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17251471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.06-0497" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Stolc1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stolc, V.
|
|
<strong>Genetic polymorphism of ceruloplasmin in the rat.</strong>
|
|
J. Hered. 75: 414-415, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6481132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6481132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6481132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/oxfordjournals.jhered.a109969" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Takahashi1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takahashi, N., Bauman, R. A., Ortel, T. L., Dwulet, F. E., Wang, C.-C., Putnam, F. W.
|
|
<strong>Internal triplication in the structure of human ceruloplasmin.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 115-119, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6571985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6571985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6571985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.80.1.115" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Takahashi1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takahashi, N., Ortel, T. L., Putnam, F. W.
|
|
<strong>Single-chain structure of human ceruloplasmin: the complete amino acid sequence of the whole molecule.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 390-394, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6582496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6582496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6582496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.81.2.390" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Takahashi1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takahashi, Y., Miyajima, H., Shirabe, S., Nagataki, S., Suenaga, A., Gitlin, J. D.
|
|
<strong>Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.</strong>
|
|
Hum. Molec. Genet. 5: 81-84, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/5.1.81" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Vila Cuenca2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vila Cuenca, M., Marchi, G., Barque, A., Esteban-Jurado, C., Marchetto, A., Giorgetti, A., Chelban, V., Houlden, H., Wood, N. W., Piubelli, C., Dorigatti Borges, M., Martins de Albuquerque, D., and 17 others.
|
|
<strong>Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia: atypical anemia as a clue for an early diagnosis.</strong>
|
|
Int. J. Molec. Sci. 21: 2374, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32235485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32235485</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32235485[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32235485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3390/ijms21072374" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Wang1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wang, H., Koschinsky, M., Hamerton, J. L.
|
|
<strong>Localization of the processed gene for human ceruloplasmin to chromosome region 8q21.13-q23.1 by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 47: 230-231, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3416657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3416657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3416657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000132556" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Weitkamp1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weitkamp, L. R.
|
|
<strong>Evidence for linkage between the loci for transferrin and ceruloplasmin in man.</strong>
|
|
Ann. Hum. Genet. 47: 293-297, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6651218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6651218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6651218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1983.tb00999.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Yang1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, F., Friedrichs, W. E., Cupples, R. L., Bonifacio, M. J., Sanford, J. A., Horton, W. A., Bowman, B. H.
|
|
<strong>Human ceruloplasmin: tissue-specific expression of transcripts produced by alternative splicing.</strong>
|
|
J. Biol. Chem. 265: 10780-10785, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2355023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2355023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2355023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Yoshida1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S., Shimizu, N., Yanagisawa, N.
|
|
<strong>A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.</strong>
|
|
Nature Genet. 9: 267-272, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0395-267" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 03/05/2024
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Jane Kelly - updated : 10/18/2007<br>Victor A. McKusick - updated : 11/24/2004<br>Cassandra L. Kniffin - reorganized : 7/3/2002<br>Victor A. McKusick - updated : 5/21/2002<br>Victor A. McKusick - updated : 11/10/1999<br>Victor A. McKusick - updated : 10/29/1999<br>Victor A. McKusick - updated : 1/26/1998<br>Victor A. McKusick - updated : 5/13/1997<br>Moyra Smith - updated : 1/28/1997<br>Moyra Smith - updated : 5/12/1996<br>Alan F. Scott - updated : 6/26/1995
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/24/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 03/15/2024
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 03/14/2024<br>ckniffin : 03/05/2024<br>carol : 11/13/2017<br>carol : 07/08/2016<br>carol : 6/16/2016<br>carol : 4/7/2011<br>carol : 10/8/2008<br>carol : 10/18/2007<br>alopez : 12/6/2004<br>terry : 11/24/2004<br>carol : 7/3/2002<br>ckniffin : 7/3/2002<br>ckniffin : 6/12/2002<br>mgross : 6/4/2002<br>terry : 5/21/2002<br>carol : 4/29/2002<br>mgross : 11/11/1999<br>mgross : 11/10/1999<br>terry : 10/29/1999<br>carol : 1/13/1999<br>terry : 1/26/1998<br>terry : 7/7/1997<br>jenny : 5/13/1997<br>terry : 5/13/1997<br>terry : 5/7/1997<br>terry : 1/28/1997<br>mark : 1/27/1997<br>mark : 10/3/1996<br>terry : 9/9/1996<br>carol : 5/22/1996<br>carol : 5/12/1996<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 2/15/1996<br>terry : 2/8/1996<br>terry : 10/30/1995<br>mark : 3/17/1995<br>carol : 1/17/1995<br>mimadm : 6/25/1994<br>supermim : 3/16/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 117700
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CERULOPLASMIN; CP
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
FERROXIDASE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CP</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 124224004;
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 3q24-q25.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 3:149,162,414-149,221,829 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
3q24-q25.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Aceruloplasminemia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
604290
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The CP gene encodes ceruloplasmin (also known as ferroxidase; iron (II):oxygen oxidoreductase, EC 1.16.3.1), a blue alpha-2-glycoprotein that binds 90 to 95% of plasma copper and has 6 or 7 cupric ions per molecule. It is involved in peroxidation of Fe(II) transferrin to form Fe(III) transferrin. Like transferrin (TF; 190000), ceruloplasmin is a plasma metalloprotein (Takahashi et al., 1984). CP is a plasma membrane glycoprotein that acts as a ferroxidase to facilitate ferroportin (SLC40A1; 604653)-mediated cellular iron export (summary by Di Meo and Tiranti, 2018). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Human ceruloplasmin is composed of a single polypeptide chain of 1,046 amino acids, with a molecular mass of 132 kD (Takahashi et al., 1984). Koschinsky et al. (1986) reported the nucleotide sequence of human preceruloplasmin cDNA. The mRNA from human liver was found to be 3,700 nucleotides in size. Sequence homology with factor VIII was demonstrated. The protein is synthesized in hepatocytes and secreted into the serum with copper incorporated during biosynthesis. Failure to incorporate copper during synthesis results in the secretion of an apoprotein devoid of copper, termed apoceruloplasmin (Culotta and Gitlin, 2001). </p><p>Yang et al. (1990) demonstrated 2 forms of CP which differed by the presence or absence of 12 nucleotide bases encoding a deduced sequence of gly-glu-tyr-pro in the C-terminal region of the molecule. Alternative splicing was the apparent explanation, and differential expression of the 2 transcripts in different tissues with production of isoforms from a single gene was demonstrated. </p><p>Klomp and Gitlin (1996) analyzed ceruloplasmin gene expression in the brain. In situ hybridization utilizing ceruloplasmin cDNA clones revealed abundant expression in specific populations of glial cells within the brain microvasculature, surrounding dopaminergic melanized neurons in the substantia nigra, and within the inner nuclear layer of the retina. </p><p>Di Meo and Tiranti (2018) stated that CP is the only known ferroxidase expressed by astrocytes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Daimon et al. (1995) determined that the ceruloplasmin gene contains 19 exons and spans approximately 50 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Klomp and Gitlin (1996) concluded that glial cell-specific ceruloplasmin gene expression is essential for iron homeostasis and neuronal survival in the human central nervous system. </p><p>Individuals with hereditary ceruloplasmin deficiency have profound iron accumulation in most tissues, suggesting that ceruloplasmin is important for normal release of cellular iron (Mukhopadhyay et al., 1998). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Weitkamp (1983) found a peak lod score of 3.5 at theta about 0.15 for linkage of CP to TF, which is located at 3q21. Homology argues for this linkage; TF and CP are linked in cattle with a lod score of 11.3 at 20% recombination frequency in sires (Larsen, 1977). By Southern blot analysis of human-mouse somatic cell hybrids, Naylor et al. (1985) mapped the CP gene to chromosome 3. Royle et al. (1987) localized the CP gene to 3q21-q24 by analysis of somatic cell hybrid DNAs and in situ hybridization. </p><p>Riddell et al. (1987) identified a ceruloplasmin pseudogene on chromosome 8. Koschinsky et al. (1987) isolated a processed gene for human ceruloplasmin and mapped it to chromosome 8 by somatic cell hybridization. Wang et al. (1988) localized the processed pseudogene further to 8q21.13-q23.1 by in situ hybridization. They pointed out that like all other processed pseudogenes described to date, the gene is located on a chromosome different from the parent gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Shreffler et al. (1967) identified at least 3 CP variants determined by codominant alleles by starch gel electrophoresis. Mohrenweiser and Decker (1982) identified several more electrophoretic variants of ceruloplasmin. </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p><strong><em>Aceruloplasminemia</em></strong></p><p>
|
|
In a Japanese woman with aceruloplasminemia (ACEP; 604290), originally reported by Miyajima et al. (1987), Harris et al. (1995) identified a homozygous frameshift mutation in the CP gene (117700.0002), resulting in a truncated open reading frame after 445 amino acids. The patient's asymptomatic daughter, who had a 50% decrease in ceruloplasmin levels, was heterozygous for the mutation. </p><p>In affected members of a Japanese family with ACEP reported by Morita et al. (1995), Yoshida et al. (1995) demonstrated a homozygous splice site mutation in the ceruloplasmin gene (117700.0001). </p><p>In a 45-year-old Japanese woman, born of consanguineous parents, with ACEP, Takahashi et al. (1996) identified a homozygous nonsense mutation in the CP gene (W858X; 117700.0003). The patient's younger brother, who had diabetes and retinal degeneration without other neurologic deficits, was also homozygous for the mutation. </p><p>In the 2 brothers with ACEP reported by Logan et al. (1994), Harris et al. (1996) found homozygosity for a 1-bp deletion (c.2389delG) in exon 13 of the CP gene (117700.0004). The nucleotide sequence surrounded this deletion site (TGGAGA) corresponded to a consensus sequence 'hotspot' for nucleotide deletions (Krawczak and Cooper, 1991). The nucleotide deletion resulted in a frameshift with change of 11 amino acids and a premature stop codon at codon 789. </p><p>In a 56-year-old Japanese man, born of consanguineous parents, with ACEP, Okamoto et al. (1996) identified a homozygous frameshift mutation in the CP gene (117700.0005). </p><p>In 12 individuals from 10 non-Japanese families with ACEP, Vila Cuenca et al. (2020) identified homozygous or compound heterozygous mutations in the CP gene (see, e.g., 117700.0006). There were 6 missense, 3 frameshifts, and 3 splice site mutations. An additional patient (a 40-year-old Polish woman, family 5) carried a heterozygous H130P variant; the authors noted that they could not exclude the presence of an additional CP mutation. Functional studies of the variants and studies of patient cells were not performed. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Evolution</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Internal duplication is a method of evolution of the genome illustrated by ceruloplasmin (Dwulet and Putnam, 1981). From internal homology of amino acid structure, Takahashi et al. (1983) concluded that the ceruloplasmin molecule evolved by tandem triplication of ancestral genes. From a computer search of the protein and nucleic acid sequence data banks of the National Biomedical Research Foundation, Church et al. (1984) found evidence that factor V (612309), factor VIII (300841), and ceruloplasmin may have had a common evolutionary origin. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>To elucidate the role of ceruloplasmin in iron homeostasis, Harris et al. (1999) created an animal model of aceruloplasminemia by disrupting the murine Cp gene. Although normal at birth, Cp -/- mice demonstrated progressive accumulation of iron such that by 1 year of age all animals had a prominent elevation of serum keratin and a 3- to 6-fold increase in the iron content of the liver and spleen. Histologic analysis of affected tissues in these mice showed abundant iron stores within reticuloendothelial cells and hepatocytes. Ferrokinetic studies in Cp +/+ and Cp -/- mice revealed equivalent rates of iron absorption and plasma iron turnover, suggesting that iron accumulation results from altered compartmentalization within the iron cycle. Consistent with this concept, Cp -/- mice showed no abnormalities in cellular iron uptake but a striking impairment in the movement of iron out of reticuloendothelial cells and hepatocytes. The findings demonstrated an essential physiologic role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores. </p><p>Mechanisms of brain and retinal iron homeostasis became subjects of increased interest after the discovery of elevated iron levels in brains of patients with Alzheimer disease (104300) and retinas of patients with age-related macular degeneration (603075). To determine whether Cp and its homolog hephestin (HEPH; 300167) are important for retinal iron homeostasis, Hahn et al. (2004) studied retinas from mice deficient in ceruloplasmin and/or hephestin. In normal mice, Cp and Heph localized to Muller glia and retinal pigment epithelium, a blood-brain barrier. Mice deficient in both Cp and Heph, but not each individually, had a striking, age-dependent increase in iron of the retinal pigment epithelium and retina. The iron storage protein ferritin (see 134790) was also increased in the doubly null retinas. After retinal iron levels had increased, mice null for both Cp and Heph had age-dependent retinal pigment epithelium hypertrophy, hypoplasia, and death, photoreceptor degeneration, and subretinal neovascularization, providing a model of some features of the human retinal diseases aceruloplasminemia and age-related macular degeneration. These pathologic changes indicated that ceruloplasmin and hephestin are critical for central nervous system iron homeostasis and that loss of both in the mouse leads to age-dependent retinal neurodegeneration, providing a model that can be used to test therapeutic efficacy of iron chelators and antiangiogenic agents. </p><p>Stasi et al. (2007) found that Cp mRNA and Cp protein were upregulated in the retinas of glaucomatous DBA/2 mice. Upregulation of Cp occurred at approximately the time of extensive retinal ganglion cell (RGC) death and increased with increasing age in the retinas but not in the brains of the animals. No age-related Cp upregulation was detected in the reference normal mouse strain (C57BL/6), which could develop significant nonglaucomatous RGC loss toward the end of the same time frame. Cp upregulation was also detected in most eyes from patients with glaucoma. Cp upregulation was localized to the Muller cells within the retinas and in the area of the inner limiting membrane. Stasi et al. (2007) concluded that the timing of this upregulation suggested that it may represent a reactive change of the retina in response to a noxious stimulus or to RGC death. Stasi et al. (2007) hypothesized that such Cp upregulation might represent a protective mechanism within the retina. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CP, IVSAS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386134142,
|
|
|
|
|
|
|
|
ClinVar: RCV000019114
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with hypo- or aceruloplasminemia (604290) reported by Morita et al. (1995), Yoshida et al. (1995) demonstrated a G-to-A transition at the splice acceptor site, converting the canonical AG to AA immediately before the exon beginning with nucleotide 3019 of the cDNA. The parents were first cousins, thus indicating autosomal recessive inheritance, which was supported by the demonstration of homozygosity in the affected sibs. In this disorder, there is no copper overload. One of the 4 aceruloplasmic sibs was free of neurologic symptoms although he showed iron deposition. The proband from whom information on the distribution of iron deposits in the brain, liver, pancreas, heart, kidney, spleen, and thyroid gland was obtained had died at the age of 60 years, having shown dementia in the advanced stages of his disorder. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CP, 5-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386134145,
|
|
|
|
|
|
gnomAD: rs386134145,
|
|
|
|
|
|
ClinVar: RCV000019118
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese woman with aceruloplasminemia (ACEP; 604290) previously reported by Miyajima et al. (1987), Harris et al. (1995) identified a homozygous 5-bp insertion in the CP gene. Although Southern blot analysis of the patient's DNA was normal, PCR amplification of 18 of the 19 exons composing the CP gene revealed a size difference in exon 7. Sequencing of this exon uncovered a 5-bp insertion at amino acid 410, resulting in a frameshift mutation and a truncated open reading frame after 445 amino acids. The patient's asymptomatic daughter, who had a 50% decrease in ceruloplasmin levels, was heterozygous for mutation. The patient was a Japanese woman, 61 years old at the time of study, who had had retinal degeneration and blepharospasm for the previous 10 years. She had also developed cogwheel rigidity and dysarthria. Her younger sister, who was asymptomatic at the time of the original presentation despite undetectable CP, was 51 years old and had recent onset of retinal degeneration and basal ganglia symptoms. In each case, the absence of serum CP was associated with mild anemia, low serum iron, and elevated serum ferritin. Magnetic resonance imaging studies demonstrated changes in the basal ganglia suggestive of elevated iron content in the brain. Liver biopsy confirmed the presence of excess iron. The study by Harris et al. (1995) demonstrated the essential role of ceruloplasmin in human biology and identified aceruloplasminemia as an autosomal recessive disorder of iron metabolism. The findings supported previous studies that identified ceruloplasmin as a ferroxidase (Osaki et al., 1966) with a role in the ferric iron uptake by transferrin. Consistent with this concept, the anemia that develops in copper-deficient animals is unresponsive to iron but is correctable by ceruloplasmin administration (Lee et al., 1968). It is also consistent with the essential role of a homologous copper oxidase in iron metabolism in yeast. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CP, TRP858TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909579,
|
|
|
|
|
|
gnomAD: rs121909579,
|
|
|
|
|
|
ClinVar: RCV000019120, RCV000760448
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 45-year-old Japanese woman, born of consanguineous parents, with aceruloplasminemia (ACEP; 604290), Takahashi et al. (1996) identified a homozygous G-to-A transition in exon 15 of the CP gene, resulting in a trp858-to-ter (W858X) substitution. The patient's younger brother, who had diabetes and retinal degeneration without other neurologic deficits, was also homozygous for the mutation. The proband was a 45-year-old woman who came to attention after a several-month history of difficulty in walking and slurring of speech. She had previously been in excellent health with the exception of insulin-dependent diabetes mellitus beginning at age 31 years. Physical examination revealed ataxic gait, scanning speech, and retinal degeneration. MRI of the brain was consistent with increased basal ganglia iron content, and laboratory studies revealed a low serum iron concentration and no detectable serum ceruloplasmin. </p><p><strong><em>Heterozygous Variant</em></strong></p><p>
|
|
In 3 individuals from 2 unrelated Japanese families with cerebellar ataxia with hypoceruloplasminemia, Miyajima et al. (2001) identified a heterozygous W858X mutation in the CP gene. The patients had onset of cerebellar dysfunction in the fourth decade. Features included relatively nondisabling gait ataxia and dysarthria, as well as hyperreflexia. Brain and abdominal MRI showed cerebellar atrophy and no low-signal intensities in the basal ganglia, thalamus, and liver. The deficiency in serum ceruloplasmin was partial; protein concentrations and ferroxidase activities ranged from 36 to 41% of control values. Serum iron concentration and transferrin saturation were normal. At autopsy, pathologic and biochemical examinations showed marked loss of Purkinje cells, a large iron deposition in the cerebellum, and small depositions in the basal ganglia, thalamus, and liver. Cerebellar ataxia reflected the site of iron deposition. The authors concluded that heterozygosity for mutation of the CP gene can result in cerebellar ataxia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CERULOPLASMIN BELFAST
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CP, 1-BP DEL, 2389G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386134149,
|
|
|
|
|
|
|
|
ClinVar: RCV000019116, RCV000019117
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with aceruloplasminemia (ACEP; 604290) reported by Logan et al. (1994), Harris et al. (1996) found homozygosity for a 1-bp deletion (c.2389delG) in exon 13 of the CP gene. The nucleotide deletion resulted in a frameshift with change of 11 amino acids and a premature stop codon at codon 789. The nucleotide sequence surrounding this deletion site (TGGAGA) corresponded to a consensus sequence 'hotspot' for nucleotide deletions (Krawczak and Cooper, 1991). The proband had been admitted to hospital at the age of 49 years with a 6-week history of thirst and polyuria and a 2-week history of progressive confusion. Neurologic examination was normal. He was started on a diabetic diet and oral sulfonylurea. At the age of 52, he suddenly left his work one day and was found at home the next day sitting in a chair with the appearance of not having been to bed. When asked why he was not at work he replied, 'What work?' Dementia progressed thereafter, confusion occurring episodically. The younger brother, who worked as a railway laborer, developed diabetes and mental slowing at the age of 47 years. The symptoms seemed to have developed over a period of days and were progressive thereafter. The abnormal ceruloplasmin in this case was referred to as ceruloplasmin Belfast. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CP, 1-BP INS, 184A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386134143,
|
|
|
|
|
|
gnomAD: rs386134143,
|
|
|
|
|
|
ClinVar: RCV000019122
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 56-year-old Japanese man, born of consanguineous parents, with hereditary ceruloplasmin deficiency (ACEP; 604290), Okamoto et al. (1996) identified a homozygous 1-bp insertion (c.184insA) in the CP gene, resulting in a frameshift and premature termination. The patient had systemic hemosiderosis, diabetes mellitus, pigment degeneration of the retina, and neurologic abnormalities. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ACERULOPLASMINEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CP, IVS10DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs768510247,
|
|
|
|
|
|
gnomAD: rs768510247,
|
|
|
|
|
|
ClinVar: RCV003985033
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected men from 2 unrelated Indian families (families 3 and 4) with aceruloplasminemia (ACEP; 604290), Vila Cuenca et al. (2020) identified a homozygous G-T transition in intron 10 of the CP gene (c.1864+5G-A), predicted to result in a splicing abnormality. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Decker and Mohrenweiser (1978); Kellermann and Walter (1972); McCombs
|
|
et al. (1970); McCombs and Bowman (1969); Morita et al. (1992);
|
|
Poulik (1968); Schwartzman et al. (1980); Shokeir et al. (1967);
|
|
Shokeir and Shreffler (1970); Stolc (1984)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Church, W. R., Jernigan, R. L., Toole, J., Hewick, R. M., Knopf, J., Knutson, G. J., Nesheim, M. E., Mann, K. G., Fass, D. N.
|
|
<strong>Coagulation factors V and VIII and ceruloplasmin constitute a family of structurally related proteins.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 6934-6937, 1984.
|
|
|
|
|
|
[PubMed: 6438625]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.81.22.6934]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Culotta, V. C., Gitlin, J. D.
|
|
<strong>Disorders of copper transport. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 3105-3126.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Daimon, M., Yamatani, K., Igarashi, M., Fukase, N., Kawanami, T., Kato, T., Tominaga, M., Sasaki, H.
|
|
<strong>Fine structure of the human ceruloplasmin gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 208: 1028-1035, 1995.
|
|
|
|
|
|
[PubMed: 7702601]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1995.1437]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Decker, R. S., Mohrenweiser, H. W.
|
|
<strong>Identification of a new variant of human ceruloplasmin. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 30: 26A, 1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di Meo, I., Tiranti, V.
|
|
<strong>Classification and molecular pathogenesis of NBIA syndromes.</strong>
|
|
Europ. J. Paediat. Neurol. 22: 272-284, 2018.
|
|
|
|
|
|
[PubMed: 29409688]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ejpn.2018.01.008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dwulet, F. E., Putnam, F. W.
|
|
<strong>Internal duplication and evolution of human ceruloplasmin.</strong>
|
|
Proc. Nat. Acad. Sci. 78: 2805-2809, 1981.
|
|
|
|
|
|
[PubMed: 6942404]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.78.5.2805]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hahn, P., Qian, Y., Dentchev, T., Chen, L., Beard, J., Harris, Z. L., Dunaief, J. L.
|
|
<strong>Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 13850-13855, 2004.
|
|
|
|
|
|
[PubMed: 15365174]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0405146101]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harris, Z. L., Durley, A. P., Man, T. K., Gitlin, J. D.
|
|
<strong>Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 10812-10817, 1999.
|
|
|
|
|
|
[PubMed: 10485908]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.96.19.10812]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harris, Z. L., Migas, M. C., Hughes, A. E., Logan, J. I., Gitlin, J. D.
|
|
<strong>Familial dementia due to a frameshift mutation in the caeruloplasmin gene.</strong>
|
|
Quart. J. Med. 89: 355-359, 1996.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T. A., Gitlin, J. D.
|
|
<strong>Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 2539-2543, 1995.
|
|
|
|
|
|
[PubMed: 7708681]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.92.7.2539]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kellermann, G., Walter, H.
|
|
<strong>On the population genetics of the ceruloplasmin polymorphism.</strong>
|
|
Humangenetik 15: 84-86, 1972.
|
|
|
|
|
|
[PubMed: 5046912]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00273436]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Klomp, L. W. J., Gitlin, J. D.
|
|
<strong>Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.</strong>
|
|
Hum. Molec. Genet. 5: 1989-1996, 1996.
|
|
|
|
|
|
[PubMed: 8968753]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.12.1989]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koschinsky, M. L., Chow, B. K.-C., Schwartz, J., Hamerton, J. L., MacGillivray, R. T. A.
|
|
<strong>Isolation and characterization of a processed gene for human ceruloplasmin.</strong>
|
|
Biochemistry 26: 7760-7767, 1987.
|
|
|
|
|
|
[PubMed: 3427102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00398a034]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koschinsky, M. L., Funk, W. D., van Oost, B. A., MacGillivray, R. T. A.
|
|
<strong>Complete cDNA sequence of human preceruloplasmin.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 5086-5090, 1986.
|
|
|
|
|
|
[PubMed: 2873574]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.14.5086]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krawczak, M., Cooper, D. N.
|
|
<strong>Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.</strong>
|
|
Hum. Genet. 86: 425-441, 1991.
|
|
|
|
|
|
[PubMed: 2016084]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00194629]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Larsen, B.
|
|
<strong>On linkage relations of ceruloplasmin polymorphism (Cp) in cattle.</strong>
|
|
Anim. Blood Groups Biochem. Genet. 8: 111-113, 1977.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, G. R., Nacht, S., Lukens, J. N., Cartwright, G. E.
|
|
<strong>Iron metabolism in copper-deficient swine.</strong>
|
|
J. Clin. Invest. 47: 2058-2069, 1968.
|
|
|
|
|
|
[PubMed: 5675426]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI105891]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Logan, J. I., Harveyson, K. B., Wisdom, G. B., Hughes, A. E., Archbold, G. P. R.
|
|
<strong>Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.</strong>
|
|
Quart. J. Med. 87: 663-670, 1994.
|
|
|
|
|
|
[PubMed: 7820540]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCombs, M. L., Bowman, B. H., Alperin, J. B.
|
|
<strong>A new ceruloplasmin variant, CP Galveston.</strong>
|
|
Clin. Genet. 1: 30-34, 1970.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCombs, M. L., Bowman, B. H.
|
|
<strong>Demonstration of inherited ceruloplasmin variants in human serum by acrylamide electrophoresis.</strong>
|
|
Tex. Rep. Biol. Med. 27: 769-772, 1969.
|
|
|
|
|
|
[PubMed: 4190683]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miyajima, H., Kono, S., Takahashi, Y., Sugimoto, M., Sakamoto, M., Sakai, N.
|
|
<strong>Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.</strong>
|
|
Neurology 57: 2205-2210, 2001.
|
|
|
|
|
|
[PubMed: 11756598]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.57.12.2205]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miyajima, H., Nishimura, Y., Mizoguchi, K., Sakamoto, M., Shimizu, T., Honda, N.
|
|
<strong>Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.</strong>
|
|
Neurology 37: 761-767, 1987.
|
|
|
|
|
|
[PubMed: 3574673]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.37.5.761]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mohrenweiser, H. W., Decker, R. S.
|
|
<strong>Identification of several electrophoretic variants of human ceruloplasmin including CpMichigan, a new polymorphism.</strong>
|
|
Hum. Hered. 32: 369-373, 1982.
|
|
|
|
|
|
[PubMed: 7152528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000153326]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., Yanagisawa, N.
|
|
<strong>Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.</strong>
|
|
Ann. Neurol. 37: 646-656, 1995.
|
|
|
|
|
|
[PubMed: 7755360]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410370515]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morita, H., Inoue, A., Yanagisawa, N.
|
|
<strong>A case with ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain.</strong>
|
|
Rinsho Shinkeigaku 32: 483-487, 1992.
|
|
|
|
|
|
[PubMed: 1458725]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mukhopadhyay, C. K., Attieh, Z. K., Fox, P. L.
|
|
<strong>Role of ceruloplasmin in cellular iron uptake.</strong>
|
|
Science 279: 714-717, 1998.
|
|
|
|
|
|
[PubMed: 9445478]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.279.5351.714]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Naylor, S. L., Yang, F., Cutshaw, S., Barnett, D. R., Bowman, B. H.
|
|
<strong>Mapping ceruloplasmin cDNA to human chromosome 3. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 711, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okamoto, N., Wada, S., Oga, T., Kawabata, Y., Baba, Y., Habu, D., Takeda, Z., Wada, Y.
|
|
<strong>Hereditary ceruloplasmin deficiency with hemosiderosis.</strong>
|
|
Hum. Genet. 97: 755-758, 1996.
|
|
|
|
|
|
[PubMed: 8641692]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02346185]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Osaki, S., Johnson, D. A., Frieden, E.
|
|
<strong>The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.</strong>
|
|
J. Biol. Chem. 241: 2746-2751, 1966.
|
|
|
|
|
|
[PubMed: 5912351]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Poulik, M. D.
|
|
<strong>Heterogeneity and structure of ceruloplasmin.</strong>
|
|
Ann. N.Y. Acad. Sci. 151: 476-501, 1968.
|
|
|
|
|
|
[PubMed: 4975696]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1749-6632.1968.tb11909.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Riddell, D. C., Wang, H., Royle, N. J., Nigli, M., Guinto, E., Kochinsky, M. L., Irwin, D. M., Cool, D., MacGillivray, R. T. A., Hamerton, J. L.
|
|
<strong>Regional assignment for the human genes encoding FII, FV, FXIII, ceruloplasmin and pseudoceruloplasmin. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 682, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roychoudhury, A. K., Nei, M.
|
|
<strong>Human Polymorphic Genes: World Distribution.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Royle, N. J., Irwin, D. M., Koschinsky, M. L., MacGillivray, R. T. A., Hamerton, J. L.
|
|
<strong>Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively.</strong>
|
|
Somat. Cell Molec. Genet. 13: 285-292, 1987.
|
|
|
|
|
|
[PubMed: 3474786]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01535211]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartzman, A. L., Gaitskhoki, V. S., L'vov, V. M., Nosikov, V. V., Braga, E. M., Frolova, L. Y., Skobeleva, N. A., Kisselev, L. L., Neifakh, S. A.
|
|
<strong>Complex molecular structure of the gene for rat ceruloplasmin.</strong>
|
|
Gene 11: 1-10, 1980.
|
|
|
|
|
|
[PubMed: 6254847]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0378-1119(80)90081-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shokeir, M. H. K., Shreffler, D. C., Gall, J. C., Jr.
|
|
<strong>Further electrophoretic variation in human ceruloplasmin. (Abstract)</strong>
|
|
American Society of Human Genetics Meeting, Toronto, December 1967.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shokeir, M. H. K., Shreffler, D. C.
|
|
<strong>Two new ceruloplasmin variants in Negroes--data on three populations.</strong>
|
|
Biochem. Genet. 4: 517-528, 1970.
|
|
|
|
|
|
[PubMed: 5456439]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00486602]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shreffler, D. C., Brewer, G. J., Gall, J. C., Honeyman, M. S.
|
|
<strong>Electrophoretic variation in human serum ceruloplasmin: a new genetic polymorphism.</strong>
|
|
Biochem. Genet. 1: 101-116, 1967.
|
|
|
|
|
|
[PubMed: 4180112]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00486512]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stasi, K., Nagel, D., Yang, X., Ren, L., Mittag, T., Danias, J.
|
|
<strong>Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 727-732, 2007.
|
|
|
|
|
|
[PubMed: 17251471]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.06-0497]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stolc, V.
|
|
<strong>Genetic polymorphism of ceruloplasmin in the rat.</strong>
|
|
J. Hered. 75: 414-415, 1984.
|
|
|
|
|
|
[PubMed: 6481132]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a109969]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takahashi, N., Bauman, R. A., Ortel, T. L., Dwulet, F. E., Wang, C.-C., Putnam, F. W.
|
|
<strong>Internal triplication in the structure of human ceruloplasmin.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 115-119, 1983.
|
|
|
|
|
|
[PubMed: 6571985]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.80.1.115]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takahashi, N., Ortel, T. L., Putnam, F. W.
|
|
<strong>Single-chain structure of human ceruloplasmin: the complete amino acid sequence of the whole molecule.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 390-394, 1984.
|
|
|
|
|
|
[PubMed: 6582496]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.81.2.390]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takahashi, Y., Miyajima, H., Shirabe, S., Nagataki, S., Suenaga, A., Gitlin, J. D.
|
|
<strong>Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.</strong>
|
|
Hum. Molec. Genet. 5: 81-84, 1996.
|
|
|
|
|
|
[PubMed: 8789443]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.1.81]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vila Cuenca, M., Marchi, G., Barque, A., Esteban-Jurado, C., Marchetto, A., Giorgetti, A., Chelban, V., Houlden, H., Wood, N. W., Piubelli, C., Dorigatti Borges, M., Martins de Albuquerque, D., and 17 others.
|
|
<strong>Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia: atypical anemia as a clue for an early diagnosis.</strong>
|
|
Int. J. Molec. Sci. 21: 2374, 2020.
|
|
|
|
|
|
[PubMed: 32235485]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3390/ijms21072374]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wang, H., Koschinsky, M., Hamerton, J. L.
|
|
<strong>Localization of the processed gene for human ceruloplasmin to chromosome region 8q21.13-q23.1 by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 47: 230-231, 1988.
|
|
|
|
|
|
[PubMed: 3416657]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000132556]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weitkamp, L. R.
|
|
<strong>Evidence for linkage between the loci for transferrin and ceruloplasmin in man.</strong>
|
|
Ann. Hum. Genet. 47: 293-297, 1983.
|
|
|
|
|
|
[PubMed: 6651218]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1983.tb00999.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yang, F., Friedrichs, W. E., Cupples, R. L., Bonifacio, M. J., Sanford, J. A., Horton, W. A., Bowman, B. H.
|
|
<strong>Human ceruloplasmin: tissue-specific expression of transcripts produced by alternative splicing.</strong>
|
|
J. Biol. Chem. 265: 10780-10785, 1990.
|
|
|
|
|
|
[PubMed: 2355023]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S., Shimizu, N., Yanagisawa, N.
|
|
<strong>A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.</strong>
|
|
Nature Genet. 9: 267-272, 1995.
|
|
|
|
|
|
[PubMed: 7539672]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0395-267]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 03/05/2024<br>Jane Kelly - updated : 10/18/2007<br>Victor A. McKusick - updated : 11/24/2004<br>Cassandra L. Kniffin - reorganized : 7/3/2002<br>Victor A. McKusick - updated : 5/21/2002<br>Victor A. McKusick - updated : 11/10/1999<br>Victor A. McKusick - updated : 10/29/1999<br>Victor A. McKusick - updated : 1/26/1998<br>Victor A. McKusick - updated : 5/13/1997<br>Moyra Smith - updated : 1/28/1997<br>Moyra Smith - updated : 5/12/1996<br>Alan F. Scott - updated : 6/26/1995
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/24/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 03/15/2024<br>carol : 03/14/2024<br>ckniffin : 03/05/2024<br>carol : 11/13/2017<br>carol : 07/08/2016<br>carol : 6/16/2016<br>carol : 4/7/2011<br>carol : 10/8/2008<br>carol : 10/18/2007<br>alopez : 12/6/2004<br>terry : 11/24/2004<br>carol : 7/3/2002<br>ckniffin : 7/3/2002<br>ckniffin : 6/12/2002<br>mgross : 6/4/2002<br>terry : 5/21/2002<br>carol : 4/29/2002<br>mgross : 11/11/1999<br>mgross : 11/10/1999<br>terry : 10/29/1999<br>carol : 1/13/1999<br>terry : 1/26/1998<br>terry : 7/7/1997<br>jenny : 5/13/1997<br>terry : 5/13/1997<br>terry : 5/7/1997<br>terry : 1/28/1997<br>mark : 1/27/1997<br>mark : 10/3/1996<br>terry : 9/9/1996<br>carol : 5/22/1996<br>carol : 5/12/1996<br>terry : 4/17/1996<br>mark : 3/7/1996<br>mark : 2/15/1996<br>terry : 2/8/1996<br>terry : 10/30/1995<br>mark : 3/17/1995<br>carol : 1/17/1995<br>mimadm : 6/25/1994<br>supermim : 3/16/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|