LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- Korean
- Study Design
- 3 SNPs in the coding region were analyzed in 85 Korean centenarians and in 106 Korean controls
- Conclusions
- The CAT haplotype (C670, A676 and T1172) frequency was significantly higher in the centenarians than in the controls
Variants (3)
1.
- Identifier
- C670
- Cytogenetic Location
- 3p22.2
- UCSC Genome Browser
- View 3p22.2 on the UCSC genome browser
2.
- Identifier
- A676
- Cytogenetic Location
- 3p22.2
- UCSC Genome Browser
- View 3p22.2 on the UCSC genome browser
3.
- Identifier
- T1172
- Cytogenetic Location
- 3p22.2
- UCSC Genome Browser
- View 3p22.2 on the UCSC genome browser
Gene details
- 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
In other databases
- GenAge human genes
- This gene is present as MLH1