LongevityMap Gene

Gene details

HGNC symbol: MLH1
Aliases: FCC2; COCA2; HNPCC; hMLH1; HNPCC2
Common name: mutL homolog 1
Description: This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). 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]
Cytogenetic Location: 3p22.2
UCSC Genome Browser: View 3p22.2 on the UCSC genome browser
OMIM: 120436
Ensembl: ENSG00000076242
UniProt/Swiss-Prot: A0A024R2S9_HUMAN
Entrez Gene: 4292
UniGene: 195364
1000 Genomes: 1000 Genomes

Homologs in model organisms

Caenorhabditis elegans: mlh-1
Danio rerio: mlh1
Drosophila melanogaster: Mlh1
Mus musculus: Mlh1
Rattus norvegicus: Mlh1
Saccharomyces cerevisiae: MLH1
Schizosaccharomyces pombe: mlh1

In other databases

GenAge human genes

This gene is present as MLH1

Studies (3)

Significant/Non-significant: 2/1

Study 1

Longevity Association: Significant
Population: Danish
Study Design: Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions: Six SNPs (in TNXRD1, XDH, GHRL, MLH1, H2AFX, XRCC5) were associated with mortality in late life after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Indentifier

Study 2

Longevity Association

Population

Study Design

3 SNPs in the coding region were analyzed in 85 Korean centenarians and in 106 Korean controls

Conclusions

The CAT haplotype (C670, A676 and T1172) frequency was significantly higher in the centenarians than in the controls

Indentifier

Reference

Study 3

Longevity Association: Non-significant
Population: Danish
Study Design: 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions: The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Indentifier