Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:10684930, ECO:0000269|PubMed:20418187, ECO:0000269|PubMed:20848659, ECO:0000269|PubMed:25820570, ECO:0000269|PubMed:26694661}.
Pfam DomainsGO Terms
Pfam Domains
HhH-GPD
GO Terms
adenine/guanine mispair binding
8-oxo-7,8-dihydroguanine DNA N-glycosylase activity
purine-specific mismatch base pair DNA N-glycosylase activity
MutLbeta complex binding
MutSbeta complex binding
depurination
oxidized purine DNA binding
MutSalpha complex binding
MutLalpha complex binding
DNA N-glycosylase activity
base-excision repair, AP site formation
mismatch repair
base-excision repair
4 iron, 4 sulfur cluster binding
DNA modification
DNA repair
DNA metabolic process
cellular response to DNA damage stimulus
mitochondrion
cellular response to stress
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)