Gene Symbol | MUTYH |
Entrez Gene ID | 4595 |
Full Name | mutY DNA glycosylase |
Synonyms | MYH |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Adenomas, multiple colorectal, 608456 (3); Gastric cancer, somatic, 613659 (3); Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3) |