MUTYH, MYH, A/G-specific adenine DNA glycosylase, MutY homolog, hMYH
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. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],cofactor:Binds 1 4Fe-4S cluster. The cluster is not important for the catalytic activity, but which is probably involved in the proper positioning of the enzyme along the DNA strand.,disease:Defects in MUTYH are a cause of autosomal recessive colorectal adenomatous polyposis [MIM:608456].,disease:Defects in MUTYH are a cause of gastric cancer [MIM:137215].,function: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.,similarity:Belongs to the nth/mutY family.,similarity:Contains 1 nudix hydrolase domain.,
