MUTYH, Official Symbol MUTYHprovided by HGNC Official Full Name mutY DNA glycosylaseprovided by HGNC Primary source HGNC:HGNC:7527 See related Ensembl:ENSG00000132781 MIM:604933; AllianceGenome:HGNC:7527 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYH Summary 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] Expression Ubiquitous expression in spleen (RPKM 3.1), thyroid (RPKM 3.0) and 25 other tissues See more Orthologs mouse all