MLH1 mutL homolog 1

Gene ID: 4292, updated on 29-Mar-2023
Gene type: protein coding
Also known as: FCC2; COCA2; HNPCC; MLH-1; hMLH1; HNPCC2; LYNCH2; MMRCS1

Summary

The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Colorectal cancer, hereditary nonpolyposis, type 2 MedGen: C1333991OMIM: 609310GeneReviews: Lynch Syndrome	See labs
Lynch syndrome MedGen: C4552100GeneReviews: Lynch Syndrome	See labs
Muir-Torre syndrome MedGen: C1321489OMIM: 158320GeneReviews: Lynch Syndrome	See labs
Turcot syndrome MedGen: C5399763OMIM: 276300GeneReviews: Lynch Syndrome	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-10-13) ClinGen Genome Curation Page

Genomic context

Location:: 3p22.2

Sequence:: Chromosome: 3; NC_000003.12 (36993466..37050846)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for MLH1 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
MLH1 @ ZAC-GGM
MLH1 homepage - Colon cancer gene variant databases
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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