LongevityMap Gene
Gene details
- HGNC symbol
- MLH3
- Aliases
- HNPCC7
- Common name
- mutL homolog 3
- Description
- This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 14q24.3
- UCSC Genome Browser
- View 14q24.3 on the UCSC genome browser
- OMIM
- 604395
- Ensembl
- ENSG00000119684
- UniProt/Swiss-Prot
- MLH3_HUMAN
- Entrez Gene
- 27030
- UniGene
- 436650
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
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
- rs175080
- Reference