LongevityMap Gene

Gene details

HGNC symbol
PMS1 
Aliases
MLH2; PMSL1; hPMS1; HNPCC3 
Common name
PMS1 homolog 1, mismatch repair system component 
Description
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
OMIM
600258
Ensembl
ENSG00000064933
UniProt/Swiss-Prot
B4DIH7_HUMAN
Entrez Gene
5378
UniGene
111749
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
pms1
Mus musculus
Pms1
Rattus norvegicus
Pms1

Studies (1)

Significant/Non-significant: 0/1

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
rs256552
Reference