A/G-Specific Adenine DNA Glycosylase (MUTYH) Antibody – Rabbit Polyclonal

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]

MUTYH: 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. Belongs to the Nth/MutY family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; Mitochondrial; EC 3.2.2.-; DNA repair, damage; Tumor suppressor

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: mitochondrion; nucleoplasm; nucleus

Molecular Function: 4 iron, 4 sulfur cluster binding; DNA N-glycosylase activity; metal ion binding; MutLalpha complex binding; MutLbeta complex binding; MutSalpha complex binding; MutSbeta complex binding; protein binding

Biological Process: base-excision repair; base-excision repair, AP site formation; depurination; DNA repair; mismatch repair; response to oxidative stress

Disease: Familial Adenomatous Polyposis, 2; Gastric Cancer; Pilomatrixoma