Gene: MUTYH

Alternate names for this Gene: MYH

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: mutY DNA glycosylase

Type of Gene: protein-coding

Gene: TOE1

Alternate names for this Gene: PCH7|hCaf1z

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: target of EGR1, exonuclease

Type of Gene: protein-coding

rs371848318 in MUTYH;TOE1 gene and Congenital pontocerebellar hypoplasia type 7 PMID 28092684 2017 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.