LongevityMap Gene
Gene details
- HGNC symbol
- MSH3
- Aliases
- DUP; FAP4; MRP1
- Common name
- mutS homolog 3
- Description
- The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
- Cytogenetic Location
- 5q14.1
- UCSC Genome Browser
- View 5q14.1 on the UCSC genome browser
- OMIM
- 600887
- Ensembl
- ENSG00000113318
- UniProt/Swiss-Prot
- MSH3_HUMAN
- Entrez Gene
- 4437
- UniGene
- 280987
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- msh3
- Mus musculus
- Msh3
- Rattus norvegicus
- Msh3
- Saccharomyces cerevisiae
- MSH3
- Schizosaccharomyces pombe
- msh3
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
- rs6151792
- Reference