MutY Homolog (MUTYH)

MUTYH 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.

Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis. Polyps caused by mutated MYH do not appear until adulthood and are less numerous than those found in patients with APC gene mutations.