MUTYH

MUTYH
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMUTYH, MYH, mutY DNA glycosylase, mutY homolog (E. coli)
External IDsOMIM: 604933; MGI: 1917853; HomoloGene: 8156; GeneCards: MUTYH; OMA:MUTYH - orthologs
Orthologs
SpeciesHumanMouse
Entrez

4595

70603

Ensembl

ENSG00000132781

ENSMUSG00000028687

UniProt

Q9UIF7

Q99P21

RefSeq (mRNA)

NM_001159581
NM_133250
NM_001316747

RefSeq (protein)

NP_001153053
NP_001303676
NP_573513

Location (UCSC)Chr 1: 45.33 – 45.34 MbChr 4: 116.66 – 116.68 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway. 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 common form of oxidative DNA damage.

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.