U.S. flag

An official website of the United States government

GTR Home > Genes

MUTYH mutY DNA glycosylase

Gene ID: 4595, updated on 1-Mar-2024
Gene type: protein coding
Also known as: MYH

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Familial adenomatous polyposis 2
MedGen: C3272841OMIM: 608456GeneReviews: MUTYH Polyposis
See labs
Gastric cancer
MedGen: C0024623OMIM: 613659GeneReviews: Not available
See labs

Genomic context

Location:
1p34.1
Sequence:
Chromosome: 1; NC_000001.11 (45329242..45340440, complement)
Total number of exons:
22

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.