Version 2.78

Description

The MLH1 gene (mutL homolog 1) [HGNC Gene ID:7127] is located on chromosome 3p21.3. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome. It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] [NCBI Gene ID:4292] 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
MLH1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-10-28
Construct for LOINC Short Name
MLH1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34683-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34683-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MLH1 基因
Synonyms: COCA2;FCC2;hMLH1;HNPCC;HNPCC2;MGC5172;MutL 同源基因 1, 结肠癌, 非多发性息肉 2 型;MutL 同源基因 1, 结肠癌, 非息肉病 2 型
et-EE Estonian (Estonia) MLH1 geen
es-ES Spanish (Spain) Gen MLH1
it-IT Italian (Italy) MLH1, gene
Synonyms: Gene MLH1
tr-TR Turkish (Turkey) MLH1 geni
ru-RU Russian (Russian Federation) MLH1 ген
nl-NL Dutch (Netherlands) MLH1-gen
Synonyms: MLH1 gen