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<span>MUTYH</span>
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<div class="rprt"><h1 class="g_title"><span class="gn"><em>MUTYH</em></span> mutY DNA glycosylase</h1><span class="geneid">Gene ID: 4595, updated on
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4-Mar-2025</span><br /><span class="geneid">Gene type: protein coding</span><br /><span class="known-as"><em>Also known as: </em>MYH</span><ul class="inline-list" style="padding-left:0;"><li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=4595[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></li><li><a href="/gene/4595/" ref="log_uid=4595&ncbi_uid=4595" data-ga-label="go_to_complete_gene_record">Go to complete Gene record for MUTYH</a></li><li><a href="/variation/view/?assm=GCF_000001405.25&q=MUTYH[gene]" ref="ncbi_uid=4595" data-ga-label="go_to_variation_viewer">Go to Variation Viewer for MUTYH variants</a></li></ul><h2>Summary</h2><p>This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]</p><div id="associated-conditions"><h2>Associated conditions</h2><p><a href="/gtr/all/tests/?term=4595[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></p><div class="associated-conditions-table"><table class="jig-ncbigrid gtr-associated-cond"><thead><tr><th class="description">Description</th><th>Tests</th></tr></thead><tbody><tr><td><a href="/gtr/conditions/C3272841" ref="ncbi_uid=4595&link_uid=C3272841" data-ga-label="condition">Familial adenomatous polyposis 2</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C3272841" ref="ncbi_uid=4595&link_uid=C3272841" data-ga-label="medgen">C3272841</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/608456" ref="ncbi_uid=4595" data-ga-label="omim"> 608456</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK107219" ref="ncbi_uid=4595" data-ga-label="gene_reviews">MUTYH Polyposis</a></span></div></td><td><a href="/gtr/all/labs/?term=C3272841[DISCUI]" ref="ncbi_uid=4595" data-ga-label="labs">See labs</a></td></tr><tr><td><a href="/gtr/conditions/C0024623" ref="ncbi_uid=4595&link_uid=C0024623" data-ga-label="condition">Gastric cancer</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C0024623" ref="ncbi_uid=4595&link_uid=C0024623" data-ga-label="medgen">C0024623</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/613659" ref="ncbi_uid=4595" data-ga-label="omim"> 613659</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td><a href="/gtr/all/labs/?term=C0024623[DISCUI]" ref="ncbi_uid=4595" data-ga-label="labs">See labs</a></td></tr></tbody></table></div></div><div id="genomic-context"><h2>Genomic context</h2><div class="map_location_wr"><div class="ch_location-wr"><dl class="chr_location"><dt>Location:</dt><dd>1p34.1</dd></dl><dl class="chr_location"><dt>Sequence: </dt><dd>Chromosome: 1; NC_000001.11 (45329242..45340440, complement)</dd></dl><dl class="chr_location"><dt>Total number of exons:</dt><dd>22</dd></dl></div><div class="note-link"></div></div><div class="viewer"><div class="choose"><label for="accession" class="label">Genomic Sequence </label><select name="accessionList" sid="1" id="accessionList"><option value="NC_000001.11_45329241_45340439" data-assembly="GRCh38.p14">NC_000001 Chromosome 1 Reference GRCh38.p14 Primary Assembly (location A)</option><option value="NC_000001.10_45794913_45806111" data-assembly="GRCh37.p13">NC_000001 Chromosome 1 Reference GRCh37.p13 Primary Assembly (location B)</option><option value="NC_060925.1_45200798_45211996" data-assembly="T2T-CHM13v2.0">NC_060925 Chromosome 1 Alternate T2T-CHM13v2.0 (location A)</option><option value="NG_008189.1_5000_16228" data-assembly="">NG_008189 RefSeqGene</option></select></div><script type="text/javascript" src="/projects/sviewer/js/sviewer.js" id="autoload"></script><div id="NC_000001" class="divAccession"><div class="seq-viewer"><p class="note-link"><strong>Go to nucleotide</strong><a href="/nuccore/NC_000001.11?report=graph&from=45327561&to=45342119&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000001.11">Graphics</a> <a href="/nuccore/NC_000001.11?report=fasta&from=45327561&to=45342119&strand=true" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000001.11">FASTA</a> <a href="/nuccore/NC_000001.11?report=genbank&from=45327561&to=45342119&strand=true" title="Nucleotide GenBank report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000001.11">GenBank</a> </p><div id="divNC_000001" class="SeqViewerApp" style="clear:both;" data-sv="appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000001.11&from=45327561&to=45342119&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"><a href="?appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000001.11&from=45327561&to=45342119&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"></a></div></div></div><input name="nucleotideLink_NC_000001.11" sid="1" type="hidden" id="nucleotideLink_NC_000001_11_45329241_45340439" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000001.11?report=graph&amp;from=45327561&amp;to=45342119&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000001.11">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000001.11?report=fasta&amp;from=45329242&amp;to=45340440&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000001.11">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000001.11?report=genbank&amp;from=45329242&amp;to=45340440&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000001.11">GenBank</a></p>" /><input name="relString_NC_000001.11" sid="1" type="hidden" id="relString_NC_000001_11_45329241_45340439" value="embedded=true&amp;noslider=1&amp;id=NC_000001.11&amp;from=45327561&amp;to=45342119&amp;strand=true&amp;content=5" /><input name="nucleotideLink_NG_008189.1" sid="1" type="hidden" id="nucleotideLink_NG_008189_1_5000_16228" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NG_008189.1?report=graph&amp;from=3316&amp;to=17912&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_008189.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NG_008189.1?report=fasta&amp;from=5001&amp;to=16229" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_008189.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NG_008189.1?report=genbank&amp;from=5001&amp;to=16229" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_008189.1">GenBank</a></p>" /><input name="relString_NG_008189.1" sid="1" type="hidden" id="relString_NG_008189_1_5000_16228" value="embedded=true&amp;noslider=1&amp;id=NG_008189.1&amp;from=3316&amp;to=17912&amp;content=5" /><input name="nucleotideLink_NC_060925.1" sid="1" type="hidden" id="nucleotideLink_NC_060925_1_45200798_45211996" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_060925.1?report=graph&amp;from=45199118&amp;to=45213676&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060925.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_060925.1?report=fasta&amp;from=45200799&amp;to=45211997&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060925.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_060925.1?report=genbank&amp;from=45200799&amp;to=45211997&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060925.1">GenBank</a></p>" /><input name="relString_NC_060925.1" sid="1" type="hidden" id="relString_NC_060925_1_45200798_45211996" value="embedded=true&amp;noslider=1&amp;id=NC_060925.1&amp;from=45199118&amp;to=45213676&amp;strand=true&amp;content=5" /><input name="nucleotideLink_NC_000001.10" sid="1" type="hidden" id="nucleotideLink_NC_000001_10_45794913_45806111" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000001.10?report=graph&amp;from=45793233&amp;to=45807791&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000001.10">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000001.10?report=fasta&amp;from=45794914&amp;to=45806112&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000001.10">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000001.10?report=genbank&amp;from=45794914&amp;to=45806112&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000001.10">GenBank</a></p>" /><input name="relString_NC_000001.10" sid="1" type="hidden" id="relString_NC_000001_10_45794913_45806111" value="embedded=true&amp;noslider=1&amp;id=NC_000001.10&amp;from=45793233&amp;to=45807791&amp;strand=true&amp;content=5" /></div></div><div id="variation"><h2>Variation</h2><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table class="jig-ncbigrid" data-jigconfig=""><thead><tr><th>Resource</th><th>Links for this gene</th></tr></thead><tbody><tr><td>ClinVar</td><td><a href="/clinvar?LinkName=gene_clinvar&from_uid=4595" ref="log$=recordlinks">Variants reported to ClinVar</a></td></tr><tr><td>dbVar</td><td><a href="/dbvar?LinkName=gene_dbvar&from_uid=4595" ref="log$=recordlinks">Studies and variants</a></td></tr><tr><td>SNP</td><td><a href="https://www.ncbi.nlm.nih.gov/variation/view/?q=MUTYH%5bgenesymbol%5d&filters=source:dbsnp" ref="ncbi_uid=4595">Variation Viewer for MUTYH variants</a></td></tr><tr><td>Genome viewer</td><td><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?id=GSM923418,GSM923422,GSM923420&context=GEO&assm=GCF_000001405.25&q=MUTYH%5bgenesymbol%5d">Explore NCBI-annotated and select non-NCBI annotated genome assemblies</a></td></tr></tbody></table></div></div></div><div id="related-pubmed"><h2>Related articles in PubMed</h2><dl><dt><a href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=4595" ref="ncbi_uid=4595&from=gtr_gene_related_pubmed_section" data-ga-label="pubmed_omim">PubMed-OMIM</a></dt><dd>publications in PubMed explicitly cited by the gene record in OMIM.
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</dd><dt><a href="/pubmed/clinical/?term=MUTYH" data-ga-label="pubmed_clinical">PubMed Clinical Queries</a></dt><dd>publications in PubMed limited specific clinical
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research.</dd><dt><a href="/pubmed/?LinkName=gene_pubmed&from_uid=4595" data-ga-label="pubmed_all_related">All related articles in PubMed</a></dt><dd>sorted by relevance are shown below. <a href="/pubmed/?LinkName=gene_pubmed&from_uid=4595" data-ga-label="pubmed_all_related">Click to see all (319) citations.</a></dd></dl><div class="generefbl-link"><ol class="generef-link"><li><a href="/pubmed/20191381/" ref="ncbi_uid=4595&link_uid=20191381" data-ga-label="pubmed_article">Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.</a><span class="pubmed-auth-date"><br />Wasielewski M, Out AA, Vermeulen J, Nielsen M, van den Ouweland A, Tops CM, Wijnen JT, Vasen HF, Weiss MM, Klijn JG, Devilee P, Hes FJ, Schutte MWasielewski M, <em>et al</em>. Breast Cancer Res Treat, 2010 Dec. PMID 20191381</span></li><li><a href="/pubmed/21112374/" ref="ncbi_uid=4595&link_uid=21112374" data-ga-label="pubmed_article">AluYb8 insertion in the MUTYH gene is related to increased 8-OHdG in genomic DNA and could be a risk factor for type 2 diabetes in a Chinese population.</a><span class="pubmed-auth-date"><br />Chen H, Sun C, Guo W, Meng R, Du H, Qi Q, Gu X, Li L, Zhang K, Zhu D, Wang YChen H, <em>et al</em>. Mol Cell Endocrinol, 2011 Jan 30. PMID 21112374</span></li><li><a href="/pubmed/21063410/" ref="ncbi_uid=4595&link_uid=21063410" data-ga-label="pubmed_article">A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.</a><span class="pubmed-auth-date"><br />Theodoratou E, Campbell H, Tenesa A, Houlston R, Webb E, Lubbe S, Broderick P, Gallinger S, Croitoru EM, Jenkins MA, Win AK, Cleary SP, Koessler T, Pharoah PD, Küry S, Bézieau S, Buecher B, Ellis NA, Peterlongo P, Offit K, Aaltonen LA, Enholm S, Lindblom A, Zhou XL, Tomlinson IP, Moreno V, Blanco I, Capellà G, Barnetson R, Porteous ME, Dunlop MG, Farrington SMTheodoratou E, <em>et al</em>. Br J Cancer, 2010 Dec 7. PMID 21063410</span></li><li><a href="/pubmed/21061173/" ref="ncbi_uid=4595&link_uid=21061173" data-ga-label="pubmed_article">Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis.</a><span class="pubmed-auth-date"><br />Win AK, Hopper JL, Jenkins MAWin AK, <em>et al</em>. Fam Cancer, 2011 Mar. PMID 21061173</span></li><li><a href="/pubmed/21044966/" ref="ncbi_uid=4595&link_uid=21044966" data-ga-label="pubmed_article">Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients.</a><span class="pubmed-auth-date"><br />Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJNielsen M, <em>et al</em>. J Natl Cancer Inst, 2010 Nov 17. PMID 21044966</span></li></ol></div></div></div>
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