MutY DNA Glycosylase

Alternative Names

  • MUTYH
  • MutY, E. coli, Homolog of
  • MYH
Back to search Result
OMIM Number

604933

NCBI Gene ID

4595

Uniprot ID

Q9UIF7

Length

11,731 bases

No. of Exons

22

No. of isoforms

6

Protein Name

Adenine DNA glycosylase

Molecular Mass

60069 Da

Amino Acid Count

546

Genomic Location

chr1:45,329,163-45,340,893

Gene Map Locus
1p34.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001048174.2:c.1174C>ALebanonchr1:45331485Benign, Likely BenignUncertain SignificanceBreast CancerNG_008189.1:g.13986C>A; NM_001048174.2:c.1174C>A; NP_001041639.1:p.Leu392Met14407953641752
NM_001128425.2:c.1258C>GLebanonchr1:45331485Uncertain SignificanceBreast CancerNG_008189.1:g.13986C>G; NM_001128425.2:c.1258C>G; NP_001121897.1:p.Leu420Val144079536220923
© CAGS 2024. All rights reserved.