Muty Homolog (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. 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]

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

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: mitochondrion; nucleoplasm; nucleus

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

Biological Process: depurination; DNA repair; mismatch repair

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