Version 2.78

Description

The MUTYH gene (mutY homolog) [HGNC Gene ID:7527] is located on chromosome 1p34.1. 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. 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. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4595] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
MUTYH gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-05-06
Construct for LOINC Short Name
MUTYH gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35690-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35690-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MUTYH 基因
Synonyms: mutY (E. coli) 同源基因;mutY (大肠埃希氏菌) 同源基因;mutY (大肠埃希菌) 同源基因;mutY (大肠杆菌) 同源基因;MYH
et-EE Estonian (Estonia) MUTYH geen
es-ES Spanish (Spain) Gen MUTYH
it-IT Italian (Italy) MUTYH, gene
Synonyms: Gene MUTYH
tr-TR Turkish (Turkey) MUTYH geni
ru-RU Russian (Russian Federation) MUTYH ген
nl-NL Dutch (Netherlands) MUTYH-gen
Synonyms: MUTYH gen