Aliases for MUTYH Gene
External Ids for MUTYH Gene
Previous GeneCards Identifiers for MUTYH Gene
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]
GeneCards Summary for MUTYH Gene
MUTYH (MutY DNA Glycosylase) is a Protein Coding gene. Diseases associated with MUTYH include Familial Adenomatous Polyposis 2 and Pilomatrixoma. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Depurination. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on glycosyl bonds.
UniProtKB/Swiss-Prot for MUTYH Gene
Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.