LongevityMap variant
- 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.
- 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]
- Other longevity studies of this gene
- 8
- OMIM
- 120436
- Ensembl
- ENSG00000076242
- UniProt/Swiss-Prot
- A0A024R2S9_HUMAN
- Entrez Gene
- 4292
- UniGene
- 195364
- HapMap
- View on HapMap
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
- GenAge human genes
- This gene is present as MLH1
Soerensen et al. (2012)
Other variants which are also part of this study
