Version 2.77

Description

The MSH6 gene (mutS homolog 6) [HGNC Gene ID:7329] is located on chromosome 2p16. This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] [NCBI Gene ID:2956] 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
MSH6 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-03
Construct for LOINC Short Name
MSH6 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34973-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34973-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MSH6 基因
Synonyms: G/T 错配-结合蛋白（G/T mismatch-binding protein，GTBP）;G/T 错配-结合蛋白基因;GTBP;HNPCC5
et-EE Estonian (Estonia) MSH6 geen
es-ES Spanish (Spain) Gen MSH6
it-IT Italian (Italy) MSH6, gene
Synonyms: Gene MSH6
tr-TR Turkish (Turkey) MSH6 geni
ru-RU Russian (Russian Federation) MSH6 ген
nl-NL Dutch (Netherlands) MSH6-gen
Synonyms: MSH6 gen