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
- Caenorhabditis elegans
- pms-2
- Danio rerio
- pms1
- Mus musculus
- Pms1
- Rattus norvegicus
- Pms1
- Saccharomyces cerevisiae
- PMS1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as 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