3905 lines
320 KiB
Text
3905 lines
320 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
|
|
|
|
- *134770 - FERRITIN HEAVY CHAIN 1; FTH1
|
|
|
|
|
|
- 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=134770"><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">*134770</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="#mapping">Mapping</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="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#history">History</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/134770">Table View</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=ENSG00000167996;t=ENST00000273550" 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=2495" 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=134770" 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=ENSG00000167996;t=ENST00000273550" 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_002032" 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_002032" 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=134770" 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=00615&isoform_id=00615_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/FTH1" 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/28435,120516,182505,182507,182511,182777,306744,507252,762940,4433153,9621744,12654093,12655095,15030203,15489239,15929451,16359091,16877184,21104438,32442332,39645112,42490866,44890440,47125326,49256419,56682959,74356468,76779199,94717643,119594395,119594396,119594397,119594398,119594399,119594400,119594401,119594402,119594403,119594404,119594405,119594406,119594407,161788324" 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/P02794" 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=2495" 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=ENSG00000167996;t=ENST00000273550" 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=FTH1" 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=FTH1" 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+2495" 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/FTH1" 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:2495" 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/2495" 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=chr11&hgg_gene=ENST00000273550.12&hgg_start=61964285&hgg_end=61967634&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=134770[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=134770[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/ENSG00000167996" 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=FTH1" 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=FTH1" 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=FTH1" 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=FTH1&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/PA28392" 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:3976" 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://flybase.org/reports/FBgn0030449.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:95588" 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/FTH1#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:95588" 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/2495/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=2495" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
|
|
<div id="mimWormbaseGeneFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001500;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001500 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001501;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001501 </a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-000831-2" 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:2495" 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=FTH1&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> 1230310007<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>
|
|
134770
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
FERRITIN HEAVY CHAIN 1; FTH1
|
|
|
|
</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">
|
|
FTH<br />
|
|
FHC<br />
|
|
FTHL6
|
|
</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=FTH1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FTH1</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/11/468?start=-3&limit=10&highlight=468">11q12.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:61964285-61967634&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'})">11:61,964,285-61,967,634</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
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=615517,620669" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/468?start=-3&limit=10&highlight=468">
|
|
11q12.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Hemochromatosis, type 5
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615517"> 615517 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Neurodegeneration with brain iron accumulation 9
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/620669"> 620669 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/134770" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/134770" 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 iron storage protein ferritin is a complex of 24 ferritin light chain (FTL; <a href="/entry/134790">134790</a>) and ferritin heavy chain (FTH1) subunits in ratios that vary in different cell types. FTH subunits exhibit ferroxidase activity, converting Fe(2+) to Fe(3+), so that iron may be stored in the ferritin mineral core, which prevents undesirable reactions of Fe(2+) with oxygen. FTL subunits are devoid of catalytic activity but are thought to facilitate nucleation and mineralization of the iron center (summary by <a href="#24" class="mim-tip-reference" title="Sammarco, M. C., Ditch, S., Banerjee, A., Grabczyk, E. <strong>Ferritin L and H subunits are differentially regulated on a post-transcriptional level.</strong> J. Biol. Chem. 283: 4578-4587, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18160403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18160403</a>] [<a href="https://doi.org/10.1074/jbc.M703456200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18160403">Sammarco et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18160403" 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><a href="#20" class="mim-tip-reference" title="Murray, M. T., White, K., Munro, H. N. <strong>Conservation of ferritin heavy subunit gene structure: implications for the regulation of ferritin gene expression.</strong> Proc. Nat. Acad. Sci. 84: 7438-7442, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3478702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3478702</a>] [<a href="https://doi.org/10.1073/pnas.84.21.7438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3478702">Murray et al. (1987)</a> demonstrated that the rat has a single H-subunit gene. Near the cap region of the 5-prime untranslated region, this subunit shows a 28-nucleotide sequence that is almost totally conserved in human, bullfrog, and chicken H mRNA and is also faithfully represented in the rat and human L-subunit mRNAs. This sequence is a prime candidate for involvement in the known translational regulation of both subunits by iron, which induces synthesis of the subunits by causing latent mRNAs present in the cytosol to become polyribosome-associated and translationally active. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3478702" 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="#14" class="mim-tip-reference" title="Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D. <strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong> Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020541</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3020541">Hentze et al. (1986)</a> isolated a genomic phage clone containing a full-length copy of the gene for ferritin heavy chain. The functionality of the gene was demonstrated by the fact that both transient transfectants and stable transformants of mouse fibroblasts actively transcribed human ferritin heavy-chain mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3020541" 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="#14" class="mim-tip-reference" title="Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D. <strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong> Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020541</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3020541">Hentze et al. (1986)</a> determined that the FTH1 gene consists of 4 exons and spans approximately 3 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3020541" 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>From genomic analysis, using a cDNA clone, <a href="#1" class="mim-tip-reference" title="Boyd, D., Jain, S. K., Crampton, J., Barrett, K. J., Drysdale, J. <strong>Isolation and characterization of a cDNA clone for human ferritin heavy chain.</strong> Proc. Nat. Acad. Sci. 81: 4751-4755, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6589621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6589621</a>] [<a href="https://doi.org/10.1073/pnas.81.15.4751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6589621">Boyd et al. (1984)</a> concluded that the ferritin heavy chains are either encoded by a multigene family or that the gene has an unusually large number of exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6589621" 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="#7" class="mim-tip-reference" title="Faniello, M. C., Fregola, A., Nistico, A., Quaresima, B., Crugliano, T., Faraonio, R., Puzzonia, P., Baudi, F., Parlato, G., Cuda, G., Morrone, G., Venuta, S., Costanzo, F. <strong>Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression.</strong> Gene 377: 1-5, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16797877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16797877</a>] [<a href="https://doi.org/10.1016/j.gene.2006.02.034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16797877">Faniello et al. (2006)</a> summarized the major regulatory elements of the FTH1 gene. They noted that the promoter region of FTH1 spans approximately 150 bp upstream from the transcription start site. The promoter has an A box at position -132 and a B box at position -62. The A box is a canonical GC box that is recognized by SP1 (<a href="/entry/189906">189906</a>). The B box is an inverted CAAT box that is recognized by the B box-binding factor (Bbf), a complex that contains the trimeric transcription factor NFY (see NFYB, <a href="/entry/189904">189904</a>), EP300 (<a href="/entry/602700">602700</a>), and P/CAF (KAT2B; <a href="/entry/602303">602303</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16797877" 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>By study of hamster-human and mouse-human hybrid cells, some with translocations involving chromosome 19, <a href="#27" class="mim-tip-reference" title="Worwood, M., Brook, J. D., Cragg, S. J., Hellkuhl, B., Jones, B. M., Perera, P., Roberts, S. H., Shaw, D. J. <strong>Assignment of human ferritin genes to chromosomes 11 and 19q13.3-19qter.</strong> Hum. Genet. 69: 371-374, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857215</a>] [<a href="https://doi.org/10.1007/BF00291657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3857215">Worwood et al. (1985)</a> concluded that light subunits of ferritin (rich in human spleen ferritin) are coded by a gene in segment 19q13.3-qter and that the gene for the heavy subunit (rich in human heart ferritin) is located on chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3857215" 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>By study of DNA extracted from rodent-human cell hybrids, <a href="#5" class="mim-tip-reference" title="Cragg, S. J., Drysdale, J., Worwood, M. <strong>Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.</strong> Hum. Genet. 71: 108-112, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3862645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3862645</a>] [<a href="https://doi.org/10.1007/BF00283363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3862645">Cragg et al. (1985)</a> found sequences homologous to a probe for the H subunit of human ferritin on at least 8 chromosomes: 1, 2, 3, 6p21-6cen, 11, 14, 20, and Xq23-Xqter. Only the gene on chromosome 11 appeared to be expressed in these hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3862645" 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="#14" class="mim-tip-reference" title="Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D. <strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong> Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020541</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3020541">Hentze et al. (1986)</a> assigned the human FTH1 gene to chromosome 11 by analysis of genomic DNA from rodent-human cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3020541" 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="#11" class="mim-tip-reference" title="Gatti, R. A., Shaked, R., Mohandas, T. K., Salser, W. <strong>Human ferritin genes: chromosomal assignments and polymorphisms.</strong> Am. J. Hum. Genet. 41: 654-667, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2821803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2821803</a>]" pmid="2821803">Gatti et al. (1987)</a> concluded that the heavy-subunit family includes 15 to 20 genes or pseudogenes and that the light-subunit family includes at least 3 genes. They confirmed and extended the chromosomal localization of the heavy-subunit 'genes' to chromosomes 1-6, 8, 9, 11, 13, 14, 17, and X. They identified and characterized a BamHI RFLP of FTH located on chromosome 3. Two alleles were identified and the polymorphic information content was calculated to be 0.34. <a href="#11" class="mim-tip-reference" title="Gatti, R. A., Shaked, R., Mohandas, T. K., Salser, W. <strong>Human ferritin genes: chromosomal assignments and polymorphisms.</strong> Am. J. Hum. Genet. 41: 654-667, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2821803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2821803</a>]" pmid="2821803">Gatti et al. (1987)</a> discussed the possibility that gene-family probes that hybridize to many discrete members of dispersed gene families might be useful in conjunction with pulsed- or inverted-field gels to screen a large number of specific genomic regions for microdeletions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2821803" 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>Using in situ hybridization, <a href="#29" class="mim-tip-reference" title="Yachou, A., Mattei, M. G., Roeckel, N., Grandchamp, B., Beaumont, C. <strong>Mouse ferritin H sequences map to chromosomes 3, 6, and 19.</strong> Genomics 9: 204-206, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2004762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2004762</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90240-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2004762">Yachou et al. (1991)</a> demonstrated that mouse ferritin H-related sequences map to murine chromosomes 3, 6, and 19. Syntenic homology suggested that the chromosome 19 sequence corresponds to the structural H gene. <a href="#30" class="mim-tip-reference" title="Yachou, A.-K., Renaudie, F., Guenet, J.-L., Simon-Chazottes, D., Jones, R., Grandchamp, B., Beaumont, C. <strong>Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19.</strong> Genomics 10: 531-538, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1679743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1679743</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90432-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1679743">Yachou et al. (1991)</a> demonstrated that ferritin H represents a multigene family, that it is polymorphic, and that there is a single multiallelic functional gene on mouse chromosome 19 in a region of conserved synteny with human chromosome 11q. <a href="#23" class="mim-tip-reference" title="Richard, C. W., Withers, D. A., Meeker, T. C., Myers, R. M. <strong>A radiation hybrid map of the proximal long arm of human chromosome 11 containing the MEN-1 and bcl-1 disease locus. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1970 only, 1991."None>Richard et al. (1991)</a> described a high resolution radiation hybrid map of 11q12-q13, which placed FTH1 between the PGA cluster (see <a href="/entry/169710">169710</a>) and COX8 (<a href="/entry/123870">123870</a>). In pulsed field gel electrophoresis studies, <a href="#10" class="mim-tip-reference" title="Gailani, M. R., Petty, E. M., Horsthemke, B., Arnold, A., Marx, S. J., Bale, A. E. <strong>Physical mapping of chromosome 11q12-13 by pulsed field gel electrophoresis (PFGE). (Abstract)</strong> Cytogenet. Cell Genet. 58: 1959 only, 1991."None>Gailani et al. (1991)</a> found that C1NH (<a href="/entry/606860">606860</a>) and FTH1 lie in the same DNA fragment that is less than or equal to 48 kb. <a href="#21" class="mim-tip-reference" title="Papadopoulos, P., Bhavsar, D., Zappone, E., David, V., Jones, C., Worwood, M., Drysdale, J. <strong>A second human ferritin H locus on chromosome 11.</strong> Cytogenet. Cell Genet. 61: 107-108, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1395714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1395714</a>] [<a href="https://doi.org/10.1159/000133382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1395714">Papadopoulos et al. (1992)</a> identified a second ferritin heavy chain gene on chromosome 11, FTH2, which in situ hybridization indicated lies close to FTH1. Whether this is a functional gene remained to be determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2004762+1395714+1679743" 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="#4" class="mim-tip-reference" title="Courseaux, A., Grosgeorge, J., Gaudray, P., Pannett, A. A. J., Forbes, S. A., Williamson, C., Bassett, D., Thakker, R. V., Teh, B. T., Farnebo, F., Shepherd, J., Skogseid, B., Larsson, C., Giraud, S., Zhang, C. X., Salandre, J., Calender, A. <strong>Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13.</strong> Genomics 37: 354-365, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8938448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8938448</a>]" pmid="8938448">Courseaux et al. (1996)</a> used a combination of methods to refine maps of an approximately 5-Mb region of 11q13. They proposed the following gene order: cen--PGA--FTH1--UGB--AHNAK--ROM1--MDU1--CHRM1--COX8--EMK1--FKBP2--PLCB3--[PYGM, ZFM1]--FAU--CAPN1--[MLK3, RELA]--FOSL1--SEA--CFL1--tel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8938448" 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="#28" class="mim-tip-reference" title="Wu, K.-J., Polack, A., Dalla-Favera, R. <strong>Coordinated regulation of iron-controlling genes, H-ferritin and IRP2, by c-MYC.</strong> Science 283: 676-679, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9924025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9924025</a>] [<a href="https://doi.org/10.1126/science.283.5402.676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9924025">Wu et al. (1999)</a> demonstrated that c-myc (<a href="/entry/190080">190080</a>) represses the expression of ferritin-H. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9924025" 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="#22" class="mim-tip-reference" title="Pham, C. G., Bubici, C., Zazzeroni, F., Papa, S., Jones, J., Alvarez, K., Jayawardena, S., De Smaele, E., Cong, R., Beaumont, C., Torti, F. M., Torti, S. V., Franzoso, G. <strong>Ferritin heavy chain upregulation by NF-kappa-B inhibits TNF-alpha-induced apoptosis by suppressing reactive oxygen species.</strong> Cell 119: 529-542, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15537542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15537542</a>] [<a href="https://doi.org/10.1016/j.cell.2004.10.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15537542">Pham et al. (2004)</a> identified FTH1, the primary iron storage factor, as an essential mediator of the antioxidant and protective activities of nuclear factor kappa-B (NFKB; see <a href="/entry/164011">164011</a>). They determined that FTH1 is induced downstream of NFKB and is required to prevent sustained JNK (see <a href="/entry/601158">601158</a>) activation and, thereby, apoptosis triggered by tumor necrosis factor (TNF; <a href="/entry/191160">191160</a>). FTH1-mediated inhibition of JNK signaling depended on suppressing reactive oxygen species accumulation and was achieved through iron sequestration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15537542" 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>Human ferritins expressed in yeast normally contain little iron, which led <a href="#25" class="mim-tip-reference" title="Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C. <strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong> Science 320: 1207-1210, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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/10.1126/science.1157643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18511687">Shi et al. (2008)</a> to hypothesize that yeast, which do not express ferritins, might also lack the requisite iron chaperones needed for delivery of iron to ferritin. In a genetic screen to identify human genes that, when expressed in yeast, could increase the amount of iron loaded into ferritin, <a href="#25" class="mim-tip-reference" title="Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C. <strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong> Science 320: 1207-1210, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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/10.1126/science.1157643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18511687">Shi et al. (2008)</a> identified poly(rC) binding protein-1 (PCBP1; <a href="/entry/601209">601209</a>). PCBP1 bound to ferritin in vivo and bound iron and facilitated iron loading into ferritin in vitro. Depletion of PCBP1 in human cells inhibited ferritin iron loading and increased cytosolic iron pools. Thus, <a href="#25" class="mim-tip-reference" title="Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C. <strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong> Science 320: 1207-1210, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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/10.1126/science.1157643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18511687">Shi et al. (2008)</a> concluded that PCBP1 can function as a cytosolic iron chaperone in the delivery of iron to ferritin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18511687" 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>Ferritin made up of only FHC can circulate and bind specifically and saturably to various cell types. Using expression cloning and protein interaction assays, <a href="#17" class="mim-tip-reference" title="Li, L., Fang, C. J., Ryan, J. C., Niemi, E. C., Lebron, J. A., Bjorkman, P. J., Arase, H., Torti, F. M., Torti, S. V., Nakamura, M. C., Seaman, W. E. <strong>Binding and uptake of H-ferritin are mediated by human transferrin receptor-1.</strong> Proc. Nat. Acad. Sci. 107: 3505-3510, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20133674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20133674</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20133674[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.0913192107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20133674">Li et al. (2010)</a> found that transferrin receptor-1 (TFR1; <a href="/entry/190010">190010</a>) bound directly to FHC, but not FTL. Binding of FHC to TFR1 on the cell surface resulted in endocytosis and transfer of FHC to endosomes and lysosomes. The FHC-TFR1 interaction was partially inhibited by diferric transferrin, but it was not inhibited by HFE (<a href="/entry/613609">613609</a>). Inhibitory antibodies that blocked binding of FHC to TFR1 revealed that TFR1 accounted for most binding of FHC to cells, including mitogen-activated lymphocytes and circulating reticulocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20133674" 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="#18" class="mim-tip-reference" title="Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C. <strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong> Nature 509: 105-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[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/10.1038/nature13148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24695223">Mancias et al. (2014)</a> used quantitative proteomics to identify a cohort of novel and known autophagosome-enriched proteins, including cargo receptors, in human cells. Like known cargo receptors, nuclear receptor coactivator-4 (NCOA4; <a href="/entry/601984">601984</a>) was highly enriched in autophagosomes, and associated with autophagy-8 (ATG8)-related proteins that recruit cargo-receptor complexes into autophagosomes (see, e.g., GABARAPL2, <a href="/entry/607452">607452</a>). Unbiased identification of NCOA4-associated proteins revealed FTH1 and ferritin light chain (FTL; <a href="/entry/134790">134790</a>), components of an iron-filled cage structure that protects cells from reactive iron species but is degraded via autophagy to release iron. <a href="#18" class="mim-tip-reference" title="Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C. <strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong> Nature 509: 105-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[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/10.1038/nature13148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24695223">Mancias et al. (2014)</a> found that delivery of ferritin to lysosomes required NCOA4, and an inability of NCOA4-deficient cells to degrade ferritin led to decreased bioavailable intracellular iron. <a href="#18" class="mim-tip-reference" title="Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C. <strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong> Nature 509: 105-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[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/10.1038/nature13148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24695223">Mancias et al. (2014)</a> concluded that their work identified NCOA4 as a selective cargo receptor for autophagic turnover of ferritin (ferritinophagy), which is critical for iron homeostasis, and provided a resource for further dissection of autophagosomal cargo-receptor connectivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24695223" 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>For a review of the ferritins, including their molecular properties, iron storage function, and cellular regulation, see <a href="#12" class="mim-tip-reference" title="Harrison, P. M., Arosio, P. <strong>The ferritins: molecular properties, iron storage function and cellular regulation.</strong> Biochim. Biophys. Acta 1275: 161-203, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8695634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8695634</a>] [<a href="https://doi.org/10.1016/0005-2728(96)00022-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8695634">Harrison and Arosio (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8695634" 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><strong><em>Hemochromatosis 5</em></strong></p><p>
|
|
Synthesis of both the H- and L-ferritin subunits is controlled by a common cytosolic protein, iron regulatory protein (IRP), which binds to the iron-responsive element (IRE) in the 5-prime untranslated region of the H- and L-ferritin mRNAs (<a href="#16" class="mim-tip-reference" title="Leibold, E. A., Munro, H. N. <strong>Cytoplasmic protein binds in vitro to a highly conserved sequence in the 5-prime untranslated region of ferritin heavy- and light-subunit mRNAs.</strong> Proc. Nat. Acad. Sci. 85: 2171-2175, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3127826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3127826</a>] [<a href="https://doi.org/10.1073/pnas.85.7.2171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3127826">Leibold and Munro, 1988</a>; <a href="#6" class="mim-tip-reference" title="Eisenstein, R. S. <strong>Iron regulatory proteins and the molecular control of mammalian iron metabolism.</strong> Annu. Rev. Nutr. 20: 627-662, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10940348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10940348</a>] [<a href="https://doi.org/10.1146/annurev.nutr.20.1.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10940348">Eisenstein, 2000</a>). In 4 of 7 members of a Japanese family affected by dominantly inherited iron overload consistent with hemochromatosis (HFE5; <a href="/entry/615517">615517</a>), <a href="#15" class="mim-tip-reference" title="Kato, J., Fujikawa, K., Kanda, M., Fukuda, N., Sasaki, K., Takayama, T., Kobune, M., Takada, K., Takimoto, R., Hamada, H., Ikeda, T., Niitsu, Y. <strong>A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.</strong> Am. J. Hum. Genet. 69: 191-197, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11389486[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/10.1086/321261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389486">Kato et al. (2001)</a> identified a heterozygous single point mutation (<a href="#0001">134770.0001</a>) in the IRE motif of H-ferritin mRNA. Gel-shift mobility assay and Scatchard-plot analysis revealed that a mutated IRE probe had a higher binding affinity to IRP than did the wildtype probe. When mutated H subunit was overexpressed in COS-1 cells, suppression of H-subunit synthesis and of the increment of radiolabeled iron uptake were observed. These data suggested that the point mutation in the IRE of H-subunit is responsible for tissue iron deposition and is a novel cause of hereditary iron overload, most likely related to impairment of the ferroxidase activity generated by H subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10940348+3127826+11389486" 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>Neurodegeneration With Brain Iron Accumulation 9</em></strong></p><p>
|
|
In 5 unrelated patients with neurodegeneration with brain iron accumulation-9 (NBIA9; <a href="/entry/620669">620669</a>), <a href="#26" class="mim-tip-reference" title="Shieh, J. T., Tintos-Hernandez, J. A., Murali, C. N., Penon-Portmann, M., Flores-Mendez, M., Santana, A., Bulos, J. A., Du, K., Dupuis, L., Damseh, N., Mendoza-Londono, R., Berera, C., Lee, J. C., Phillips, J. J., Alves, C. A. P. F., Dmochowski, I. J., Ortiz-Gonzalez, X. R. <strong>Heterozygous nonsense variants in the ferritin heavy chain gene FTH1 cause a neuroferritinopathy.</strong> Hum. Genet. Genomics Adv. 4: 100236, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37660254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37660254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37660254[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/10.1016/j.xhgg.2023.100236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37660254">Shieh et al. (2023)</a> identified de novo heterozygous truncating mutations in the last exon (exon 4) of the FTH1 gene. One patient carried an S164X mutation (<a href="#0002">134770.0002</a>) and the 4 other patients carried an F171X mutation (<a href="#0003">134770.0003</a>). The mutations, which were found by whole-exome sequencing, were not present in the gnomAD database. Studies of patient fibroblasts showed that both mutations escaped nonsense-mediated mRNA decay and produced a C-terminally truncated protein with a likely dominant-negative effect. Molecular modeling predicted that the mutations would disrupt the ferritin E-helix, alter the pore region that is important for iron retention, and thus likely diminish iron-storage capacity. Patient fibroblasts showed elevated FTH1 and FTL (<a href="/entry/134790">134790</a>) protein levels, abnormal accumulation of cytoplasmic ferritin aggregates, increased susceptibility to iron accumulation, and evidence of increased oxidation and oxidative stress compared to controls. Targeted knockdown of the mutant S164X FTH1 transcript using antisense oligonucleotides (ASOs) in vitro partially rescued the abnormal cellular phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37660254" 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>Polymorphisms</em></strong></p><p>
|
|
Using single-strand conformation polymorphism analysis, <a href="#7" class="mim-tip-reference" title="Faniello, M. C., Fregola, A., Nistico, A., Quaresima, B., Crugliano, T., Faraonio, R., Puzzonia, P., Baudi, F., Parlato, G., Cuda, G., Morrone, G., Venuta, S., Costanzo, F. <strong>Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression.</strong> Gene 377: 1-5, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16797877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16797877</a>] [<a href="https://doi.org/10.1016/j.gene.2006.02.034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16797877">Faniello et al. (2006)</a> analyzed peripheral blood lymphocyte DNA fragments from the promoter region of the FTH1 gene from 100 healthy Southern Italian individuals. They identified 3 unrelated individuals carrying 1 allele of a -69G-T SNP. Two of these individuals were married, and their descendant carried T on both alleles. Reporter gene assays showed reduced expression from the ferritin promoter in samples with the T allele compared with the G allele. The -69G allele was significantly more efficient in competing with the -69T allele for binding to the Bbf complex in cross-competition assays. Real-time PCR analysis of -69TT, -69GT, and -69GG samples revealed a dose-dependent decrease in steady-state amount of H-ferritin mRNA with increasing dose of the T allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16797877" 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><a href="#8" class="mim-tip-reference" title="Ferreira, C., Bucchini, D., Martin, M.-E., Levi, S., Arosio, P., Grandchamp, B., Beaumont, C. <strong>Early embryonic lethality of H ferritin gene deletion in mice.</strong> J. Biol. Chem. 275: 3021-3024, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10652280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10652280</a>] [<a href="https://doi.org/10.1074/jbc.275.5.3021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10652280">Ferreira et al. (2000)</a> disrupted the H-ferritin gene in mice by homologous recombination. Heterozygous mice were healthy, fertile, and did not differ significantly from their control littermates. However, Fth -/- embryos died between 3.5 and 9.5 days of development, suggesting that there is no functional redundancy between the 2 ferritin subunits and that, in the absence of H subunits, L-ferritin homopolymers are not able to maintain iron in a bioavailable and nontoxic form. The pattern of expression of the wildtype Fth gene in 9.5-day embryos is restricted to the developing heart and central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10652280" 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>The results of an analysis of H-ferritin knockout mice by <a href="#9" class="mim-tip-reference" title="Ferreira, C., Santambrogio, P., Martin, M.-E., Andrieu, V., Feldmann, G., Henin, D., Beaumont, C. <strong>H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload.</strong> Blood 98: 525-532, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468145</a>] [<a href="https://doi.org/10.1182/blood.v98.3.525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11468145">Ferreira et al. (2001)</a> raised the possibility that reduced H-ferritin expression may be responsible for unexplained human cases of hyperferritinemia in the absence of iron overload where the hereditary hyperferritinemia-cataract syndrome (<a href="/entry/600886">600886</a>) has been excluded. Heterozygous H-ferritin knockout mice had slightly elevated tissue L-ferritin content and 7- to 10-fold more L-ferritin in the serum than normal mice, but their serum iron remained unchanged. H-ferritin synthesis from the remaining allele was not upregulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11468145" 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="#13" class="mim-tip-reference" title="Hasegawa, S., Harada, K., Morokoshi, Y., Tsukamoto, S., Furukawa, T., Saga, T. <strong>Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene.</strong> Transgenic Res. 22: 651-658, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111618</a>] [<a href="https://doi.org/10.1007/s11248-012-9669-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23111618">Hasegawa et al. (2013)</a> created transgenic mice expressing human H-ferritin (HF-tg). HF-tg mice were viable and reproduced normally, but they exhibited growth retardation and a temporary hairless phenotype. HF-tg mice eventually achieved normal weight, and their serum iron concentration and blood parameters, such as hemoglobin and red blood cell counts, were comparable to wildtype. Temporary hair loss in HF-tg mice began at 3 to 5 weeks of age, with loss of coat hair on the trunk, but not the head or face. Although initial hair development was normal and epidermal differentiation was largely unaltered, HF-tg skin showed hyperplasia with hyperkeratosis, dilated hair follicles, bended hair shafts, and keratinous debris during the hairless period, which lasted approximately 1 to 2 weeks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23111618" 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="history" class="mim-anchor"></a>
|
|
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Ferritin of liver and spleen contains mostly L subunits. Antibodies to liver or spleen ferritin are not likely to detect ferritin containing only H subunits. This may explain the conclusion of <a href="#2" class="mim-tip-reference" title="Caskey, J. H., Jones, C., Miller, Y. E., Seligman, P. A. <strong>Human ferritin gene is assigned to chromosome 19.</strong> Proc. Nat. Acad. Sci. 80: 482-486, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572903</a>] [<a href="https://doi.org/10.1073/pnas.80.2.482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6572903">Caskey et al. (1983)</a> that both subunits are coded by chromosome 19. Heart ferritin contains a preponderance of H subunits. (According to <a href="#3" class="mim-tip-reference" title="Costanzo, F., Colombo, M., Staempfli, S., Santoro, C., Marone, M., Frank, R., Delius, H., Cortese, R. <strong>Structure of gene and pseudogenes of human apoferritin H.</strong> Nucleic Acids Res. 14: 721-736, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003694</a>] [<a href="https://doi.org/10.1093/nar/14.2.721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3003694">Costanzo et al. (1986)</a>, the 2 types of apoferritin subunits were designated H and L for heart and liver, respectively.) Contrary to the earlier impression that both the heavy and light chains of ferritin are encoded by chromosome 19, <a href="#19" class="mim-tip-reference" title="McGill, J. R., Boyd, D., Barrett, K. J., Drysdale, J. W., Moore, C. M. <strong>Localization of human ferritin H (heavy) and L (light) subunits by in situ hybridization. (Abstract)</strong> Am. J. Hum. Genet. 36: 146S only, 1984."None>McGill et al. (1984)</a> by in situ hybridization localized the L gene to 19 (as previously) and the H gene to 1p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3003694+6572903" 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>Using a heavy chain probe of <a href="#1" class="mim-tip-reference" title="Boyd, D., Jain, S. K., Crampton, J., Barrett, K. J., Drysdale, J. <strong>Isolation and characterization of a cDNA clone for human ferritin heavy chain.</strong> Proc. Nat. Acad. Sci. 81: 4751-4755, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6589621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6589621</a>] [<a href="https://doi.org/10.1073/pnas.81.15.4751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6589621">Boyd et al. (1984)</a>, <a href="#31" class="mim-tip-reference" title="Youssoufian, H., Chance, P., Tuck-Muller, C. M., Jabs, E. W. <strong>Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.</strong> Hum. Genet. 78: 267-270, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162227</a>] [<a href="https://doi.org/10.1007/BF00291674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162227">Youssoufian et al. (1988)</a> concluded that one FTH gene is in the segment 1q32.3-q42.3. In a patient with deletion of this segment, a reduced hybridization signal with the FTH probe was observed. The gene may be nonfunctional (i.e., a pseudogene). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3162227+6589621" 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>3 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/134770" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=134770[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 HEMOCHROMATOSIS, TYPE 5 (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FTH1, +49A-T, 5-PRIME UTR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906549 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906549;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=rs387906549" 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=rs387906549" 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=RCV001823872" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001823872" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001823872</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#15" class="mim-tip-reference" title="Kato, J., Fujikawa, K., Kanda, M., Fukuda, N., Sasaki, K., Takayama, T., Kobune, M., Takada, K., Takimoto, R., Hamada, H., Ikeda, T., Niitsu, Y. <strong>A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.</strong> Am. J. Hum. Genet. 69: 191-197, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11389486[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/10.1086/321261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389486">Kato et al. (2001)</a> studied a Japanese family segregating autosomal dominant primary iron overload (HFE5; <a href="/entry/615517">615517</a>). The proband was a 56-year-old woman who was incidentally found to have iron overload. A brother, 2 sisters, and a daughter of 1 of the sisters were affected. The father of the 3 affected sibs was deceased; the mother was apparently unaffected. After excluding other causes of iron overload, they sequenced H- and L-ferritin cDNAs. In the sequence of H subunit mRNA, they found a heterozygous single A-to-U conversion at position 49 from the transcription start site, in the second residue of the 5-base IRE loop sequence. The mutation was found in the genomic DNA of the 4 affected members of the family but not in 42 unrelated normal subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11389486" 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 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FTH1, 4-BP DUP, 487GAAT
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003482890" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003482890" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003482890</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old girl of Indian descent (P1) with neurodegeneration with brain iron accumulation-9 (NBIA9; <a href="/entry/620669">620669</a>), <a href="#26" class="mim-tip-reference" title="Shieh, J. T., Tintos-Hernandez, J. A., Murali, C. N., Penon-Portmann, M., Flores-Mendez, M., Santana, A., Bulos, J. A., Du, K., Dupuis, L., Damseh, N., Mendoza-Londono, R., Berera, C., Lee, J. C., Phillips, J. J., Alves, C. A. P. F., Dmochowski, I. J., Ortiz-Gonzalez, X. R. <strong>Heterozygous nonsense variants in the ferritin heavy chain gene FTH1 cause a neuroferritinopathy.</strong> Hum. Genet. Genomics Adv. 4: 100236, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37660254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37660254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37660254[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/10.1016/j.xhgg.2023.100236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37660254">Shieh et al. (2023)</a> identified a de novo heterozygous 4-bp duplication (c.487_490dupGAAT, NM_002032) in the last exon (exon 4) of the FTH1 gene, resulting in premature termination (ser164 to ter, S164X) in the C terminus, deleting the E-helix region. The mutation, which was found by whole-exome sequencing, was not present in the gnomAD database. Patient fibroblasts showed mildly decreased FTH1 mRNA compared to controls, although mutant-specific transcripts were detectable, indicating escape from nonsense-mediated mRNA decay. Patient fibroblasts showed increased protein levels of both FTH1 and FTL (<a href="/entry/134790">134790</a>) compared to controls. Patient fibroblasts showed increased iron accumulation compared to controls at 7 days after iron exposure; patient cells also showed increased levels of oxidized proteins and peroxidized lipids, suggesting that the mutation resulted in increased susceptibility to oxidative stress. Molecular modeling predicted that the mutation would disrupt the ferritin E-helix, alter the pore region that is important for iron retention, and thus likely diminish iron-storage capacity. The findings were consistent with a dominant-negative effect. Targeted knockdown of the mutant FTH1 transcript using antisense oligonucleotides (ASOs) in vitro partially rescued the abnormal cellular phenotype. The patient also carried a heterozygous missense variant of uncertain significance (R253W) in the TOE1 gene (<a href="/entry/613931">613931</a>) that was inherited from the unaffected father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37660254" 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 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FTH1, 2-BP DEL, 512TT
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003482891 OR RCV004721198" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003482891, RCV004721198" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003482891...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated patients (P2-P5) with neurodegeneration with brain iron accumulation-9 (NBIA9; <a href="/entry/620669">620669</a>), <a href="#26" class="mim-tip-reference" title="Shieh, J. T., Tintos-Hernandez, J. A., Murali, C. N., Penon-Portmann, M., Flores-Mendez, M., Santana, A., Bulos, J. A., Du, K., Dupuis, L., Damseh, N., Mendoza-Londono, R., Berera, C., Lee, J. C., Phillips, J. J., Alves, C. A. P. F., Dmochowski, I. J., Ortiz-Gonzalez, X. R. <strong>Heterozygous nonsense variants in the ferritin heavy chain gene FTH1 cause a neuroferritinopathy.</strong> Hum. Genet. Genomics Adv. 4: 100236, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37660254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37660254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37660254[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/10.1016/j.xhgg.2023.100236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37660254">Shieh et al. (2023)</a> identified a de novo heterozygous 2-bp deletion (c.512_513delTT, NM_002032) in the last exon (exon 4) of the FTH1 gene, resulting in premature termination (phe171 to ter, F171X) in the E-helix region of the C terminus. The mutation, which was found by whole-exome sequencing, was not present in the gnomAD database. Patient fibroblasts showed mildly decreased FTH1 mRNA compared to controls, although mutant-specific transcripts were detectable, indicating escape from nonsense-mediated mRNA decay. Patient cells showed increased protein levels of both FTH1 and FTL (<a href="/entry/134790">134790</a>) compared to controls. Immunostaining of patient cells showed the presence of abnormal FTH1-positive cytoplasmic aggregates that were not observed in control cells, and these aggregates increased in the presence of iron. Although iron content did not differ between patient cells and controls up to 7 days after iron exposure, patient fibroblasts showed increased levels of oxidized proteins and peroxidized lipids, suggesting that the mutation resulted in increased susceptibility to oxidative stress. Molecular modeling predicted that the mutation would disrupt the ferritin E-helix, alter the pore region that is important for iron retention, and thus likely diminish iron-storage capacity. The findings were consistent with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37660254" 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="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="Boyd1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boyd, D., Jain, S. K., Crampton, J., Barrett, K. J., Drysdale, J.
|
|
<strong>Isolation and characterization of a cDNA clone for human ferritin heavy chain.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 4751-4755, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6589621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6589621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6589621" 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.81.15.4751" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Caskey1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Caskey, J. H., Jones, C., Miller, Y. E., Seligman, P. A.
|
|
<strong>Human ferritin gene is assigned to chromosome 19.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 482-486, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572903</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6572903" 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.80.2.482" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Costanzo1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Costanzo, F., Colombo, M., Staempfli, S., Santoro, C., Marone, M., Frank, R., Delius, H., Cortese, R.
|
|
<strong>Structure of gene and pseudogenes of human apoferritin H.</strong>
|
|
Nucleic Acids Res. 14: 721-736, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3003694" 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/nar/14.2.721" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Courseaux1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Courseaux, A., Grosgeorge, J., Gaudray, P., Pannett, A. A. J., Forbes, S. A., Williamson, C., Bassett, D., Thakker, R. V., Teh, B. T., Farnebo, F., Shepherd, J., Skogseid, B., Larsson, C., Giraud, S., Zhang, C. X., Salandre, J., Calender, A.
|
|
<strong>Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13.</strong>
|
|
Genomics 37: 354-365, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8938448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8938448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8938448" 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="5" class="mim-anchor"></a>
|
|
<a id="Cragg1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cragg, S. J., Drysdale, J., Worwood, M.
|
|
<strong>Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.</strong>
|
|
Hum. Genet. 71: 108-112, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3862645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3862645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3862645" 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/BF00283363" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Eisenstein2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eisenstein, R. S.
|
|
<strong>Iron regulatory proteins and the molecular control of mammalian iron metabolism.</strong>
|
|
Annu. Rev. Nutr. 20: 627-662, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10940348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10940348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10940348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.nutr.20.1.627" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Faniello2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Faniello, M. C., Fregola, A., Nistico, A., Quaresima, B., Crugliano, T., Faraonio, R., Puzzonia, P., Baudi, F., Parlato, G., Cuda, G., Morrone, G., Venuta, S., Costanzo, F.
|
|
<strong>Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression.</strong>
|
|
Gene 377: 1-5, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16797877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16797877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16797877" 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.gene.2006.02.034" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Ferreira2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferreira, C., Bucchini, D., Martin, M.-E., Levi, S., Arosio, P., Grandchamp, B., Beaumont, C.
|
|
<strong>Early embryonic lethality of H ferritin gene deletion in mice.</strong>
|
|
J. Biol. Chem. 275: 3021-3024, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10652280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10652280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10652280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.275.5.3021" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Ferreira2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferreira, C., Santambrogio, P., Martin, M.-E., Andrieu, V., Feldmann, G., Henin, D., Beaumont, C.
|
|
<strong>H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload.</strong>
|
|
Blood 98: 525-532, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11468145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood.v98.3.525" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Gailani1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gailani, M. R., Petty, E. M., Horsthemke, B., Arnold, A., Marx, S. J., Bale, A. E.
|
|
<strong>Physical mapping of chromosome 11q12-13 by pulsed field gel electrophoresis (PFGE). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1959 only, 1991.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Gatti1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gatti, R. A., Shaked, R., Mohandas, T. K., Salser, W.
|
|
<strong>Human ferritin genes: chromosomal assignments and polymorphisms.</strong>
|
|
Am. J. Hum. Genet. 41: 654-667, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2821803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2821803</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2821803" 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="12" class="mim-anchor"></a>
|
|
<a id="Harrison1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harrison, P. M., Arosio, P.
|
|
<strong>The ferritins: molecular properties, iron storage function and cellular regulation.</strong>
|
|
Biochim. Biophys. Acta 1275: 161-203, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8695634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8695634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8695634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0005-2728(96)00022-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Hasegawa2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hasegawa, S., Harada, K., Morokoshi, Y., Tsukamoto, S., Furukawa, T., Saga, T.
|
|
<strong>Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene.</strong>
|
|
Transgenic Res. 22: 651-658, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23111618" 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/s11248-012-9669-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Hentze1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D.
|
|
<strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3020541" 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.83.19.7226" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Kato2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kato, J., Fujikawa, K., Kanda, M., Fukuda, N., Sasaki, K., Takayama, T., Kobune, M., Takada, K., Takimoto, R., Hamada, H., Ikeda, T., Niitsu, Y.
|
|
<strong>A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.</strong>
|
|
Am. J. Hum. Genet. 69: 191-197, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389486</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11389486[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=11389486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/321261" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Leibold1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leibold, E. A., Munro, H. N.
|
|
<strong>Cytoplasmic protein binds in vitro to a highly conserved sequence in the 5-prime untranslated region of ferritin heavy- and light-subunit mRNAs.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 2171-2175, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3127826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3127826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3127826" 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.85.7.2171" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Li2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Li, L., Fang, C. J., Ryan, J. C., Niemi, E. C., Lebron, J. A., Bjorkman, P. J., Arase, H., Torti, F. M., Torti, S. V., Nakamura, M. C., Seaman, W. E.
|
|
<strong>Binding and uptake of H-ferritin are mediated by human transferrin receptor-1.</strong>
|
|
Proc. Nat. Acad. Sci. 107: 3505-3510, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20133674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20133674</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20133674[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=20133674" 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.0913192107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Mancias2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C.
|
|
<strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong>
|
|
Nature 509: 105-109, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24695223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24695223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24695223[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=24695223" 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/nature13148" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="McGill1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McGill, J. R., Boyd, D., Barrett, K. J., Drysdale, J. W., Moore, C. M.
|
|
<strong>Localization of human ferritin H (heavy) and L (light) subunits by in situ hybridization. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 36: 146S only, 1984.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Murray1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Murray, M. T., White, K., Munro, H. N.
|
|
<strong>Conservation of ferritin heavy subunit gene structure: implications for the regulation of ferritin gene expression.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 7438-7442, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3478702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3478702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3478702" 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.84.21.7438" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Papadopoulos1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Papadopoulos, P., Bhavsar, D., Zappone, E., David, V., Jones, C., Worwood, M., Drysdale, J.
|
|
<strong>A second human ferritin H locus on chromosome 11.</strong>
|
|
Cytogenet. Cell Genet. 61: 107-108, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1395714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1395714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1395714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000133382" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Pham2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pham, C. G., Bubici, C., Zazzeroni, F., Papa, S., Jones, J., Alvarez, K., Jayawardena, S., De Smaele, E., Cong, R., Beaumont, C., Torti, F. M., Torti, S. V., Franzoso, G.
|
|
<strong>Ferritin heavy chain upregulation by NF-kappa-B inhibits TNF-alpha-induced apoptosis by suppressing reactive oxygen species.</strong>
|
|
Cell 119: 529-542, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15537542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15537542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15537542" 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.cell.2004.10.017" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Richard1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Richard, C. W., Withers, D. A., Meeker, T. C., Myers, R. M.
|
|
<strong>A radiation hybrid map of the proximal long arm of human chromosome 11 containing the MEN-1 and bcl-1 disease locus. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1970 only, 1991.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Sammarco2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sammarco, M. C., Ditch, S., Banerjee, A., Grabczyk, E.
|
|
<strong>Ferritin L and H subunits are differentially regulated on a post-transcriptional level.</strong>
|
|
J. Biol. Chem. 283: 4578-4587, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18160403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18160403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18160403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M703456200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Shi2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C.
|
|
<strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong>
|
|
Science 320: 1207-1210, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18511687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18511687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18511687[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=18511687" 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.1157643" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Shieh2023" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shieh, J. T., Tintos-Hernandez, J. A., Murali, C. N., Penon-Portmann, M., Flores-Mendez, M., Santana, A., Bulos, J. A., Du, K., Dupuis, L., Damseh, N., Mendoza-Londono, R., Berera, C., Lee, J. C., Phillips, J. J., Alves, C. A. P. F., Dmochowski, I. J., Ortiz-Gonzalez, X. R.
|
|
<strong>Heterozygous nonsense variants in the ferritin heavy chain gene FTH1 cause a neuroferritinopathy.</strong>
|
|
Hum. Genet. Genomics Adv. 4: 100236, 2023.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37660254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37660254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37660254[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=37660254" 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.xhgg.2023.100236" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Worwood1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Worwood, M., Brook, J. D., Cragg, S. J., Hellkuhl, B., Jones, B. M., Perera, P., Roberts, S. H., Shaw, D. J.
|
|
<strong>Assignment of human ferritin genes to chromosomes 11 and 19q13.3-19qter.</strong>
|
|
Hum. Genet. 69: 371-374, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3857215" 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/BF00291657" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Wu1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wu, K.-J., Polack, A., Dalla-Favera, R.
|
|
<strong>Coordinated regulation of iron-controlling genes, H-ferritin and IRP2, by c-MYC.</strong>
|
|
Science 283: 676-679, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9924025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9924025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9924025" 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.283.5402.676" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Yachou1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yachou, A., Mattei, M. G., Roeckel, N., Grandchamp, B., Beaumont, C.
|
|
<strong>Mouse ferritin H sequences map to chromosomes 3, 6, and 19.</strong>
|
|
Genomics 9: 204-206, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2004762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2004762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2004762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(91)90240-f" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Yachou1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yachou, A.-K., Renaudie, F., Guenet, J.-L., Simon-Chazottes, D., Jones, R., Grandchamp, B., Beaumont, C.
|
|
<strong>Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19.</strong>
|
|
Genomics 10: 531-538, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1679743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1679743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1679743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(91)90432-e" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Youssoufian1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Youssoufian, H., Chance, P., Tuck-Muller, C. M., Jabs, E. W.
|
|
<strong>Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.</strong>
|
|
Hum. Genet. 78: 267-270, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3162227" 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/BF00291674" 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 : 01/08/2024
|
|
</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">
|
|
Patricia A. Hartz - updated : 11/3/2014<br>Ada Hamosh - updated : 5/28/2014<br>Marla J. F. O'Neill - updated : 11/6/2013<br>Ada Hamosh - updated : 6/10/2008<br>Stylianos E. Antonarakis - updated : 1/4/2005<br>Victor A. McKusick - updated : 12/5/2001<br>Victor A. McKusick - updated : 8/16/2001<br>Ada Hamosh - updated : 2/11/2000<br>Ada Hamosh - updated : 3/4/1999<br>Ada Hamosh - updated : 1/29/1999<br>Alan F. Scott - updated : 8/5/1997
|
|
</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 : 6/4/1986
|
|
</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">
|
|
alopez : 01/10/2024
|
|
</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">
|
|
ckniffin : 01/08/2024<br>mgross : 11/07/2014<br>mcolton : 11/3/2014<br>alopez : 5/28/2014<br>alopez : 5/5/2014<br>carol : 11/6/2013<br>carol : 11/6/2013<br>carol : 11/4/2013<br>carol : 2/9/2011<br>alopez : 6/12/2008<br>terry : 6/10/2008<br>mgross : 1/4/2005<br>terry : 7/19/2004<br>mgross : 3/17/2004<br>terry : 6/26/2002<br>carol : 4/25/2002<br>carol : 4/25/2002<br>carol : 12/10/2001<br>mcapotos : 12/5/2001<br>cwells : 9/7/2001<br>cwells : 8/27/2001<br>terry : 8/16/2001<br>alopez : 2/15/2000<br>terry : 2/11/2000<br>alopez : 3/4/1999<br>alopez : 1/29/1999<br>alopez : 1/29/1999<br>joanna : 8/6/1997<br>terry : 8/5/1997<br>mimadm : 9/24/1994<br>carol : 12/21/1992<br>supermim : 3/16/1992<br>carol : 3/4/1992<br>carol : 2/22/1992<br>carol : 10/10/1991
|
|
</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> 134770
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
FERRITIN HEAVY CHAIN 1; FTH1
|
|
|
|
</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">
|
|
FTH<br />
|
|
FHC<br />
|
|
FTHL6
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: FTH1</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 1230310007;
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 11q12.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 11:61,964,285-61,967,634 </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="2">
|
|
<span class="mim-font">
|
|
11q12.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Hemochromatosis, type 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615517
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Neurodegeneration with brain iron accumulation 9
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
620669
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</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 iron storage protein ferritin is a complex of 24 ferritin light chain (FTL; 134790) and ferritin heavy chain (FTH1) subunits in ratios that vary in different cell types. FTH subunits exhibit ferroxidase activity, converting Fe(2+) to Fe(3+), so that iron may be stored in the ferritin mineral core, which prevents undesirable reactions of Fe(2+) with oxygen. FTL subunits are devoid of catalytic activity but are thought to facilitate nucleation and mineralization of the iron center (summary by Sammarco et al., 2008). </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>Murray et al. (1987) demonstrated that the rat has a single H-subunit gene. Near the cap region of the 5-prime untranslated region, this subunit shows a 28-nucleotide sequence that is almost totally conserved in human, bullfrog, and chicken H mRNA and is also faithfully represented in the rat and human L-subunit mRNAs. This sequence is a prime candidate for involvement in the known translational regulation of both subunits by iron, which induces synthesis of the subunits by causing latent mRNAs present in the cytosol to become polyribosome-associated and translationally active. </p><p>Hentze et al. (1986) isolated a genomic phage clone containing a full-length copy of the gene for ferritin heavy chain. The functionality of the gene was demonstrated by the fact that both transient transfectants and stable transformants of mouse fibroblasts actively transcribed human ferritin heavy-chain mRNA. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hentze et al. (1986) determined that the FTH1 gene consists of 4 exons and spans approximately 3 kb. </p><p>From genomic analysis, using a cDNA clone, Boyd et al. (1984) concluded that the ferritin heavy chains are either encoded by a multigene family or that the gene has an unusually large number of exons. </p><p>Faniello et al. (2006) summarized the major regulatory elements of the FTH1 gene. They noted that the promoter region of FTH1 spans approximately 150 bp upstream from the transcription start site. The promoter has an A box at position -132 and a B box at position -62. The A box is a canonical GC box that is recognized by SP1 (189906). The B box is an inverted CAAT box that is recognized by the B box-binding factor (Bbf), a complex that contains the trimeric transcription factor NFY (see NFYB, 189904), EP300 (602700), and P/CAF (KAT2B; 602303). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By study of hamster-human and mouse-human hybrid cells, some with translocations involving chromosome 19, Worwood et al. (1985) concluded that light subunits of ferritin (rich in human spleen ferritin) are coded by a gene in segment 19q13.3-qter and that the gene for the heavy subunit (rich in human heart ferritin) is located on chromosome 11. </p><p>By study of DNA extracted from rodent-human cell hybrids, Cragg et al. (1985) found sequences homologous to a probe for the H subunit of human ferritin on at least 8 chromosomes: 1, 2, 3, 6p21-6cen, 11, 14, 20, and Xq23-Xqter. Only the gene on chromosome 11 appeared to be expressed in these hybrids. </p><p>Hentze et al. (1986) assigned the human FTH1 gene to chromosome 11 by analysis of genomic DNA from rodent-human cell hybrids. </p><p>Gatti et al. (1987) concluded that the heavy-subunit family includes 15 to 20 genes or pseudogenes and that the light-subunit family includes at least 3 genes. They confirmed and extended the chromosomal localization of the heavy-subunit 'genes' to chromosomes 1-6, 8, 9, 11, 13, 14, 17, and X. They identified and characterized a BamHI RFLP of FTH located on chromosome 3. Two alleles were identified and the polymorphic information content was calculated to be 0.34. Gatti et al. (1987) discussed the possibility that gene-family probes that hybridize to many discrete members of dispersed gene families might be useful in conjunction with pulsed- or inverted-field gels to screen a large number of specific genomic regions for microdeletions. </p><p>Using in situ hybridization, Yachou et al. (1991) demonstrated that mouse ferritin H-related sequences map to murine chromosomes 3, 6, and 19. Syntenic homology suggested that the chromosome 19 sequence corresponds to the structural H gene. Yachou et al. (1991) demonstrated that ferritin H represents a multigene family, that it is polymorphic, and that there is a single multiallelic functional gene on mouse chromosome 19 in a region of conserved synteny with human chromosome 11q. Richard et al. (1991) described a high resolution radiation hybrid map of 11q12-q13, which placed FTH1 between the PGA cluster (see 169710) and COX8 (123870). In pulsed field gel electrophoresis studies, Gailani et al. (1991) found that C1NH (606860) and FTH1 lie in the same DNA fragment that is less than or equal to 48 kb. Papadopoulos et al. (1992) identified a second ferritin heavy chain gene on chromosome 11, FTH2, which in situ hybridization indicated lies close to FTH1. Whether this is a functional gene remained to be determined. </p><p>Courseaux et al. (1996) used a combination of methods to refine maps of an approximately 5-Mb region of 11q13. They proposed the following gene order: cen--PGA--FTH1--UGB--AHNAK--ROM1--MDU1--CHRM1--COX8--EMK1--FKBP2--PLCB3--[PYGM, ZFM1]--FAU--CAPN1--[MLK3, RELA]--FOSL1--SEA--CFL1--tel. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Wu et al. (1999) demonstrated that c-myc (190080) represses the expression of ferritin-H. </p><p>Pham et al. (2004) identified FTH1, the primary iron storage factor, as an essential mediator of the antioxidant and protective activities of nuclear factor kappa-B (NFKB; see 164011). They determined that FTH1 is induced downstream of NFKB and is required to prevent sustained JNK (see 601158) activation and, thereby, apoptosis triggered by tumor necrosis factor (TNF; 191160). FTH1-mediated inhibition of JNK signaling depended on suppressing reactive oxygen species accumulation and was achieved through iron sequestration. </p><p>Human ferritins expressed in yeast normally contain little iron, which led Shi et al. (2008) to hypothesize that yeast, which do not express ferritins, might also lack the requisite iron chaperones needed for delivery of iron to ferritin. In a genetic screen to identify human genes that, when expressed in yeast, could increase the amount of iron loaded into ferritin, Shi et al. (2008) identified poly(rC) binding protein-1 (PCBP1; 601209). PCBP1 bound to ferritin in vivo and bound iron and facilitated iron loading into ferritin in vitro. Depletion of PCBP1 in human cells inhibited ferritin iron loading and increased cytosolic iron pools. Thus, Shi et al. (2008) concluded that PCBP1 can function as a cytosolic iron chaperone in the delivery of iron to ferritin. </p><p>Ferritin made up of only FHC can circulate and bind specifically and saturably to various cell types. Using expression cloning and protein interaction assays, Li et al. (2010) found that transferrin receptor-1 (TFR1; 190010) bound directly to FHC, but not FTL. Binding of FHC to TFR1 on the cell surface resulted in endocytosis and transfer of FHC to endosomes and lysosomes. The FHC-TFR1 interaction was partially inhibited by diferric transferrin, but it was not inhibited by HFE (613609). Inhibitory antibodies that blocked binding of FHC to TFR1 revealed that TFR1 accounted for most binding of FHC to cells, including mitogen-activated lymphocytes and circulating reticulocytes. </p><p>Mancias et al. (2014) used quantitative proteomics to identify a cohort of novel and known autophagosome-enriched proteins, including cargo receptors, in human cells. Like known cargo receptors, nuclear receptor coactivator-4 (NCOA4; 601984) was highly enriched in autophagosomes, and associated with autophagy-8 (ATG8)-related proteins that recruit cargo-receptor complexes into autophagosomes (see, e.g., GABARAPL2, 607452). Unbiased identification of NCOA4-associated proteins revealed FTH1 and ferritin light chain (FTL; 134790), components of an iron-filled cage structure that protects cells from reactive iron species but is degraded via autophagy to release iron. Mancias et al. (2014) found that delivery of ferritin to lysosomes required NCOA4, and an inability of NCOA4-deficient cells to degrade ferritin led to decreased bioavailable intracellular iron. Mancias et al. (2014) concluded that their work identified NCOA4 as a selective cargo receptor for autophagic turnover of ferritin (ferritinophagy), which is critical for iron homeostasis, and provided a resource for further dissection of autophagosomal cargo-receptor connectivity. </p><p>For a review of the ferritins, including their molecular properties, iron storage function, and cellular regulation, see Harrison and Arosio (1996). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Hemochromatosis 5</em></strong></p><p>
|
|
Synthesis of both the H- and L-ferritin subunits is controlled by a common cytosolic protein, iron regulatory protein (IRP), which binds to the iron-responsive element (IRE) in the 5-prime untranslated region of the H- and L-ferritin mRNAs (Leibold and Munro, 1988; Eisenstein, 2000). In 4 of 7 members of a Japanese family affected by dominantly inherited iron overload consistent with hemochromatosis (HFE5; 615517), Kato et al. (2001) identified a heterozygous single point mutation (134770.0001) in the IRE motif of H-ferritin mRNA. Gel-shift mobility assay and Scatchard-plot analysis revealed that a mutated IRE probe had a higher binding affinity to IRP than did the wildtype probe. When mutated H subunit was overexpressed in COS-1 cells, suppression of H-subunit synthesis and of the increment of radiolabeled iron uptake were observed. These data suggested that the point mutation in the IRE of H-subunit is responsible for tissue iron deposition and is a novel cause of hereditary iron overload, most likely related to impairment of the ferroxidase activity generated by H subunit. </p><p><strong><em>Neurodegeneration With Brain Iron Accumulation 9</em></strong></p><p>
|
|
In 5 unrelated patients with neurodegeneration with brain iron accumulation-9 (NBIA9; 620669), Shieh et al. (2023) identified de novo heterozygous truncating mutations in the last exon (exon 4) of the FTH1 gene. One patient carried an S164X mutation (134770.0002) and the 4 other patients carried an F171X mutation (134770.0003). The mutations, which were found by whole-exome sequencing, were not present in the gnomAD database. Studies of patient fibroblasts showed that both mutations escaped nonsense-mediated mRNA decay and produced a C-terminally truncated protein with a likely dominant-negative effect. Molecular modeling predicted that the mutations would disrupt the ferritin E-helix, alter the pore region that is important for iron retention, and thus likely diminish iron-storage capacity. Patient fibroblasts showed elevated FTH1 and FTL (134790) protein levels, abnormal accumulation of cytoplasmic ferritin aggregates, increased susceptibility to iron accumulation, and evidence of increased oxidation and oxidative stress compared to controls. Targeted knockdown of the mutant S164X FTH1 transcript using antisense oligonucleotides (ASOs) in vitro partially rescued the abnormal cellular phenotype. </p><p><strong><em>Polymorphisms</em></strong></p><p>
|
|
Using single-strand conformation polymorphism analysis, Faniello et al. (2006) analyzed peripheral blood lymphocyte DNA fragments from the promoter region of the FTH1 gene from 100 healthy Southern Italian individuals. They identified 3 unrelated individuals carrying 1 allele of a -69G-T SNP. Two of these individuals were married, and their descendant carried T on both alleles. Reporter gene assays showed reduced expression from the ferritin promoter in samples with the T allele compared with the G allele. The -69G allele was significantly more efficient in competing with the -69T allele for binding to the Bbf complex in cross-competition assays. Real-time PCR analysis of -69TT, -69GT, and -69GG samples revealed a dose-dependent decrease in steady-state amount of H-ferritin mRNA with increasing dose of the T allele. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ferreira et al. (2000) disrupted the H-ferritin gene in mice by homologous recombination. Heterozygous mice were healthy, fertile, and did not differ significantly from their control littermates. However, Fth -/- embryos died between 3.5 and 9.5 days of development, suggesting that there is no functional redundancy between the 2 ferritin subunits and that, in the absence of H subunits, L-ferritin homopolymers are not able to maintain iron in a bioavailable and nontoxic form. The pattern of expression of the wildtype Fth gene in 9.5-day embryos is restricted to the developing heart and central nervous system. </p><p>The results of an analysis of H-ferritin knockout mice by Ferreira et al. (2001) raised the possibility that reduced H-ferritin expression may be responsible for unexplained human cases of hyperferritinemia in the absence of iron overload where the hereditary hyperferritinemia-cataract syndrome (600886) has been excluded. Heterozygous H-ferritin knockout mice had slightly elevated tissue L-ferritin content and 7- to 10-fold more L-ferritin in the serum than normal mice, but their serum iron remained unchanged. H-ferritin synthesis from the remaining allele was not upregulated. </p><p>Hasegawa et al. (2013) created transgenic mice expressing human H-ferritin (HF-tg). HF-tg mice were viable and reproduced normally, but they exhibited growth retardation and a temporary hairless phenotype. HF-tg mice eventually achieved normal weight, and their serum iron concentration and blood parameters, such as hemoglobin and red blood cell counts, were comparable to wildtype. Temporary hair loss in HF-tg mice began at 3 to 5 weeks of age, with loss of coat hair on the trunk, but not the head or face. Although initial hair development was normal and epidermal differentiation was largely unaltered, HF-tg skin showed hyperplasia with hyperkeratosis, dilated hair follicles, bended hair shafts, and keratinous debris during the hairless period, which lasted approximately 1 to 2 weeks. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ferritin of liver and spleen contains mostly L subunits. Antibodies to liver or spleen ferritin are not likely to detect ferritin containing only H subunits. This may explain the conclusion of Caskey et al. (1983) that both subunits are coded by chromosome 19. Heart ferritin contains a preponderance of H subunits. (According to Costanzo et al. (1986), the 2 types of apoferritin subunits were designated H and L for heart and liver, respectively.) Contrary to the earlier impression that both the heavy and light chains of ferritin are encoded by chromosome 19, McGill et al. (1984) by in situ hybridization localized the L gene to 19 (as previously) and the H gene to 1p. </p><p>Using a heavy chain probe of Boyd et al. (1984), Youssoufian et al. (1988) concluded that one FTH gene is in the segment 1q32.3-q42.3. In a patient with deletion of this segment, a reduced hybridization signal with the FTH probe was observed. The gene may be nonfunctional (i.e., a pseudogene). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>3 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 HEMOCHROMATOSIS, TYPE 5 (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTH1, +49A-T, 5-PRIME UTR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906549,
|
|
|
|
|
|
|
|
ClinVar: RCV001823872
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kato et al. (2001) studied a Japanese family segregating autosomal dominant primary iron overload (HFE5; 615517). The proband was a 56-year-old woman who was incidentally found to have iron overload. A brother, 2 sisters, and a daughter of 1 of the sisters were affected. The father of the 3 affected sibs was deceased; the mother was apparently unaffected. After excluding other causes of iron overload, they sequenced H- and L-ferritin cDNAs. In the sequence of H subunit mRNA, they found a heterozygous single A-to-U conversion at position 49 from the transcription start site, in the second residue of the 5-base IRE loop sequence. The mutation was found in the genomic DNA of the 4 affected members of the family but not in 42 unrelated normal subjects. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTH1, 4-BP DUP, 487GAAT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003482890
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old girl of Indian descent (P1) with neurodegeneration with brain iron accumulation-9 (NBIA9; 620669), Shieh et al. (2023) identified a de novo heterozygous 4-bp duplication (c.487_490dupGAAT, NM_002032) in the last exon (exon 4) of the FTH1 gene, resulting in premature termination (ser164 to ter, S164X) in the C terminus, deleting the E-helix region. The mutation, which was found by whole-exome sequencing, was not present in the gnomAD database. Patient fibroblasts showed mildly decreased FTH1 mRNA compared to controls, although mutant-specific transcripts were detectable, indicating escape from nonsense-mediated mRNA decay. Patient fibroblasts showed increased protein levels of both FTH1 and FTL (134790) compared to controls. Patient fibroblasts showed increased iron accumulation compared to controls at 7 days after iron exposure; patient cells also showed increased levels of oxidized proteins and peroxidized lipids, suggesting that the mutation resulted in increased susceptibility to oxidative stress. Molecular modeling predicted that the mutation would disrupt the ferritin E-helix, alter the pore region that is important for iron retention, and thus likely diminish iron-storage capacity. The findings were consistent with a dominant-negative effect. Targeted knockdown of the mutant FTH1 transcript using antisense oligonucleotides (ASOs) in vitro partially rescued the abnormal cellular phenotype. The patient also carried a heterozygous missense variant of uncertain significance (R253W) in the TOE1 gene (613931) that was inherited from the unaffected father. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FTH1, 2-BP DEL, 512TT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003482891, RCV004721198
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated patients (P2-P5) with neurodegeneration with brain iron accumulation-9 (NBIA9; 620669), Shieh et al. (2023) identified a de novo heterozygous 2-bp deletion (c.512_513delTT, NM_002032) in the last exon (exon 4) of the FTH1 gene, resulting in premature termination (phe171 to ter, F171X) in the E-helix region of the C terminus. The mutation, which was found by whole-exome sequencing, was not present in the gnomAD database. Patient fibroblasts showed mildly decreased FTH1 mRNA compared to controls, although mutant-specific transcripts were detectable, indicating escape from nonsense-mediated mRNA decay. Patient cells showed increased protein levels of both FTH1 and FTL (134790) compared to controls. Immunostaining of patient cells showed the presence of abnormal FTH1-positive cytoplasmic aggregates that were not observed in control cells, and these aggregates increased in the presence of iron. Although iron content did not differ between patient cells and controls up to 7 days after iron exposure, patient fibroblasts showed increased levels of oxidized proteins and peroxidized lipids, suggesting that the mutation resulted in increased susceptibility to oxidative stress. Molecular modeling predicted that the mutation would disrupt the ferritin E-helix, alter the pore region that is important for iron retention, and thus likely diminish iron-storage capacity. The findings were consistent with a dominant-negative effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boyd, D., Jain, S. K., Crampton, J., Barrett, K. J., Drysdale, J.
|
|
<strong>Isolation and characterization of a cDNA clone for human ferritin heavy chain.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 4751-4755, 1984.
|
|
|
|
|
|
[PubMed: 6589621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.81.15.4751]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caskey, J. H., Jones, C., Miller, Y. E., Seligman, P. A.
|
|
<strong>Human ferritin gene is assigned to chromosome 19.</strong>
|
|
Proc. Nat. Acad. Sci. 80: 482-486, 1983.
|
|
|
|
|
|
[PubMed: 6572903]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.80.2.482]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Costanzo, F., Colombo, M., Staempfli, S., Santoro, C., Marone, M., Frank, R., Delius, H., Cortese, R.
|
|
<strong>Structure of gene and pseudogenes of human apoferritin H.</strong>
|
|
Nucleic Acids Res. 14: 721-736, 1986.
|
|
|
|
|
|
[PubMed: 3003694]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/14.2.721]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Courseaux, A., Grosgeorge, J., Gaudray, P., Pannett, A. A. J., Forbes, S. A., Williamson, C., Bassett, D., Thakker, R. V., Teh, B. T., Farnebo, F., Shepherd, J., Skogseid, B., Larsson, C., Giraud, S., Zhang, C. X., Salandre, J., Calender, A.
|
|
<strong>Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13.</strong>
|
|
Genomics 37: 354-365, 1996.
|
|
|
|
|
|
[PubMed: 8938448]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cragg, S. J., Drysdale, J., Worwood, M.
|
|
<strong>Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.</strong>
|
|
Hum. Genet. 71: 108-112, 1985.
|
|
|
|
|
|
[PubMed: 3862645]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00283363]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eisenstein, R. S.
|
|
<strong>Iron regulatory proteins and the molecular control of mammalian iron metabolism.</strong>
|
|
Annu. Rev. Nutr. 20: 627-662, 2000.
|
|
|
|
|
|
[PubMed: 10940348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.nutr.20.1.627]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Faniello, M. C., Fregola, A., Nistico, A., Quaresima, B., Crugliano, T., Faraonio, R., Puzzonia, P., Baudi, F., Parlato, G., Cuda, G., Morrone, G., Venuta, S., Costanzo, F.
|
|
<strong>Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression.</strong>
|
|
Gene 377: 1-5, 2006.
|
|
|
|
|
|
[PubMed: 16797877]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.gene.2006.02.034]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferreira, C., Bucchini, D., Martin, M.-E., Levi, S., Arosio, P., Grandchamp, B., Beaumont, C.
|
|
<strong>Early embryonic lethality of H ferritin gene deletion in mice.</strong>
|
|
J. Biol. Chem. 275: 3021-3024, 2000.
|
|
|
|
|
|
[PubMed: 10652280]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.275.5.3021]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferreira, C., Santambrogio, P., Martin, M.-E., Andrieu, V., Feldmann, G., Henin, D., Beaumont, C.
|
|
<strong>H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload.</strong>
|
|
Blood 98: 525-532, 2001.
|
|
|
|
|
|
[PubMed: 11468145]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood.v98.3.525]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gailani, M. R., Petty, E. M., Horsthemke, B., Arnold, A., Marx, S. J., Bale, A. E.
|
|
<strong>Physical mapping of chromosome 11q12-13 by pulsed field gel electrophoresis (PFGE). (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1959 only, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gatti, R. A., Shaked, R., Mohandas, T. K., Salser, W.
|
|
<strong>Human ferritin genes: chromosomal assignments and polymorphisms.</strong>
|
|
Am. J. Hum. Genet. 41: 654-667, 1987.
|
|
|
|
|
|
[PubMed: 2821803]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harrison, P. M., Arosio, P.
|
|
<strong>The ferritins: molecular properties, iron storage function and cellular regulation.</strong>
|
|
Biochim. Biophys. Acta 1275: 161-203, 1996.
|
|
|
|
|
|
[PubMed: 8695634]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0005-2728(96)00022-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hasegawa, S., Harada, K., Morokoshi, Y., Tsukamoto, S., Furukawa, T., Saga, T.
|
|
<strong>Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene.</strong>
|
|
Transgenic Res. 22: 651-658, 2013.
|
|
|
|
|
|
[PubMed: 23111618]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s11248-012-9669-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hentze, M. W., Keim, S., Papadopoulos, P., O'Brien, S., Modi, W., Drysdale, J., Leonard, W. J., Harford, J. B., Klausner, R. D.
|
|
<strong>Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 7226-7230, 1986.
|
|
|
|
|
|
[PubMed: 3020541]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.19.7226]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kato, J., Fujikawa, K., Kanda, M., Fukuda, N., Sasaki, K., Takayama, T., Kobune, M., Takada, K., Takimoto, R., Hamada, H., Ikeda, T., Niitsu, Y.
|
|
<strong>A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.</strong>
|
|
Am. J. Hum. Genet. 69: 191-197, 2001.
|
|
|
|
|
|
[PubMed: 11389486]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/321261]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leibold, E. A., Munro, H. N.
|
|
<strong>Cytoplasmic protein binds in vitro to a highly conserved sequence in the 5-prime untranslated region of ferritin heavy- and light-subunit mRNAs.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 2171-2175, 1988.
|
|
|
|
|
|
[PubMed: 3127826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.85.7.2171]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, L., Fang, C. J., Ryan, J. C., Niemi, E. C., Lebron, J. A., Bjorkman, P. J., Arase, H., Torti, F. M., Torti, S. V., Nakamura, M. C., Seaman, W. E.
|
|
<strong>Binding and uptake of H-ferritin are mediated by human transferrin receptor-1.</strong>
|
|
Proc. Nat. Acad. Sci. 107: 3505-3510, 2010.
|
|
|
|
|
|
[PubMed: 20133674]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0913192107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mancias, J. D., Wang, X., Gygi, S. P., Harper, J. W., Kimmelman, A. C.
|
|
<strong>Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.</strong>
|
|
Nature 509: 105-109, 2014.
|
|
|
|
|
|
[PubMed: 24695223]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature13148]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McGill, J. R., Boyd, D., Barrett, K. J., Drysdale, J. W., Moore, C. M.
|
|
<strong>Localization of human ferritin H (heavy) and L (light) subunits by in situ hybridization. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 36: 146S only, 1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Murray, M. T., White, K., Munro, H. N.
|
|
<strong>Conservation of ferritin heavy subunit gene structure: implications for the regulation of ferritin gene expression.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 7438-7442, 1987.
|
|
|
|
|
|
[PubMed: 3478702]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.84.21.7438]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Papadopoulos, P., Bhavsar, D., Zappone, E., David, V., Jones, C., Worwood, M., Drysdale, J.
|
|
<strong>A second human ferritin H locus on chromosome 11.</strong>
|
|
Cytogenet. Cell Genet. 61: 107-108, 1992.
|
|
|
|
|
|
[PubMed: 1395714]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000133382]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pham, C. G., Bubici, C., Zazzeroni, F., Papa, S., Jones, J., Alvarez, K., Jayawardena, S., De Smaele, E., Cong, R., Beaumont, C., Torti, F. M., Torti, S. V., Franzoso, G.
|
|
<strong>Ferritin heavy chain upregulation by NF-kappa-B inhibits TNF-alpha-induced apoptosis by suppressing reactive oxygen species.</strong>
|
|
Cell 119: 529-542, 2004.
|
|
|
|
|
|
[PubMed: 15537542]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.cell.2004.10.017]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richard, C. W., Withers, D. A., Meeker, T. C., Myers, R. M.
|
|
<strong>A radiation hybrid map of the proximal long arm of human chromosome 11 containing the MEN-1 and bcl-1 disease locus. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1970 only, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sammarco, M. C., Ditch, S., Banerjee, A., Grabczyk, E.
|
|
<strong>Ferritin L and H subunits are differentially regulated on a post-transcriptional level.</strong>
|
|
J. Biol. Chem. 283: 4578-4587, 2008.
|
|
|
|
|
|
[PubMed: 18160403]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M703456200]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shi, H., Bencze, K. Z., Stemmler, T. L., Philpott, C. C.
|
|
<strong>A cytosolic iron chaperone that delivers iron to ferritin.</strong>
|
|
Science 320: 1207-1210, 2008.
|
|
|
|
|
|
[PubMed: 18511687]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1157643]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shieh, J. T., Tintos-Hernandez, J. A., Murali, C. N., Penon-Portmann, M., Flores-Mendez, M., Santana, A., Bulos, J. A., Du, K., Dupuis, L., Damseh, N., Mendoza-Londono, R., Berera, C., Lee, J. C., Phillips, J. J., Alves, C. A. P. F., Dmochowski, I. J., Ortiz-Gonzalez, X. R.
|
|
<strong>Heterozygous nonsense variants in the ferritin heavy chain gene FTH1 cause a neuroferritinopathy.</strong>
|
|
Hum. Genet. Genomics Adv. 4: 100236, 2023.
|
|
|
|
|
|
[PubMed: 37660254]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.xhgg.2023.100236]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Worwood, M., Brook, J. D., Cragg, S. J., Hellkuhl, B., Jones, B. M., Perera, P., Roberts, S. H., Shaw, D. J.
|
|
<strong>Assignment of human ferritin genes to chromosomes 11 and 19q13.3-19qter.</strong>
|
|
Hum. Genet. 69: 371-374, 1985.
|
|
|
|
|
|
[PubMed: 3857215]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00291657]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wu, K.-J., Polack, A., Dalla-Favera, R.
|
|
<strong>Coordinated regulation of iron-controlling genes, H-ferritin and IRP2, by c-MYC.</strong>
|
|
Science 283: 676-679, 1999.
|
|
|
|
|
|
[PubMed: 9924025]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.283.5402.676]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yachou, A., Mattei, M. G., Roeckel, N., Grandchamp, B., Beaumont, C.
|
|
<strong>Mouse ferritin H sequences map to chromosomes 3, 6, and 19.</strong>
|
|
Genomics 9: 204-206, 1991.
|
|
|
|
|
|
[PubMed: 2004762]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90240-f]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yachou, A.-K., Renaudie, F., Guenet, J.-L., Simon-Chazottes, D., Jones, R., Grandchamp, B., Beaumont, C.
|
|
<strong>Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19.</strong>
|
|
Genomics 10: 531-538, 1991.
|
|
|
|
|
|
[PubMed: 1679743]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90432-e]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Youssoufian, H., Chance, P., Tuck-Muller, C. M., Jabs, E. W.
|
|
<strong>Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.</strong>
|
|
Hum. Genet. 78: 267-270, 1988.
|
|
|
|
|
|
[PubMed: 3162227]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00291674]
|
|
|
|
|
|
</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 : 01/08/2024<br>Patricia A. Hartz - updated : 11/3/2014<br>Ada Hamosh - updated : 5/28/2014<br>Marla J. F. O'Neill - updated : 11/6/2013<br>Ada Hamosh - updated : 6/10/2008<br>Stylianos E. Antonarakis - updated : 1/4/2005<br>Victor A. McKusick - updated : 12/5/2001<br>Victor A. McKusick - updated : 8/16/2001<br>Ada Hamosh - updated : 2/11/2000<br>Ada Hamosh - updated : 3/4/1999<br>Ada Hamosh - updated : 1/29/1999<br>Alan F. Scott - updated : 8/5/1997
|
|
</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 : 6/4/1986
|
|
</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">
|
|
alopez : 01/10/2024<br>ckniffin : 01/08/2024<br>mgross : 11/07/2014<br>mcolton : 11/3/2014<br>alopez : 5/28/2014<br>alopez : 5/5/2014<br>carol : 11/6/2013<br>carol : 11/6/2013<br>carol : 11/4/2013<br>carol : 2/9/2011<br>alopez : 6/12/2008<br>terry : 6/10/2008<br>mgross : 1/4/2005<br>terry : 7/19/2004<br>mgross : 3/17/2004<br>terry : 6/26/2002<br>carol : 4/25/2002<br>carol : 4/25/2002<br>carol : 12/10/2001<br>mcapotos : 12/5/2001<br>cwells : 9/7/2001<br>cwells : 8/27/2001<br>terry : 8/16/2001<br>alopez : 2/15/2000<br>terry : 2/11/2000<br>alopez : 3/4/1999<br>alopez : 1/29/1999<br>alopez : 1/29/1999<br>joanna : 8/6/1997<br>terry : 8/5/1997<br>mimadm : 9/24/1994<br>carol : 12/21/1992<br>supermim : 3/16/1992<br>carol : 3/4/1992<br>carol : 2/22/1992<br>carol : 10/10/1991
|
|
</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 12, 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>
|
|
|
|
|