Protein Name | mutY DNA glycosylase |
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Organism | Homo sapiens |
Gene ID | 4595 |
Gene Symbol | MUTYH |
UniProt | Q9UIF7 (MUTYH_HUMAN), E5KP28 (E5KP28_HUMAN), E5KP27 (E5KP27_HUMAN), D3DPZ6 (D3DPZ6_HUMAN), E5KP25 (E5KP25_HUMAN), E5KP26 (E5KP26_HUMAN), E9PM53 (E9PM53_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
92
Total Number of Articles : 156 |
Description |
mutY DNA glycosylase |
Gene 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] |
synonyms |
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Properties | |