The MUTYH gene (MUTYH stands for: MutY DNA glycosylase) is a protein-coding gene located on chromosome 1p34.1. Several transcript variants encoding different isoforms have been found for this gene. The GO (Gene Ontology) annotations associated with this gene include hydrolase activities that act primarily on glycosyl bonds. An important paralog of this gene is NTHL1.
MUTYH gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The MUTYH gene encodes a DNA glycosylase that is involved in the repair of oxidative DNA damage. The enzyme cuts adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine or 8-oxo-7,8-dihydroguanine, one of the most common oxidatively damaged DNA lesions.
PathophysiologyThis section has been translated automatically.
The MUTYH glycolase is localized in the cell nucleus and in the mitochondria. This glycolase is thought to play a role in signaling apoptosis by introducing single-strand breaks after oxidative damage. Mutations in the MUTYH gene lead to a hereditary predisposition to colorectal cancer, known as MUTYH-associated polyposis (MAP) (see hereditary polyposis syndromes below).
Diseases associated with MUTYH include familial adenomatous polyposis 2(MUTYH-associated polyposis) and stomach cancer.
LiteratureThis section has been translated automatically.
- Nielsen M et al. (2011) MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol 79:1-16.