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 DNA Double-Strand Break Repair and DNA Damage. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on glycosyl bonds. An important paralog of this gene is NTHL1.
UniProtKB/Swiss-Prot Summary 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.