LongevityMap variant
Entry Details
- Longevity Association
- Non-significant
- Population
- Japanese
- Study Design
- The R219K SNP was examined in 256 centenarians and 190 healthy younger controls (22-65 years old)
- Conclusions
- The allelic frequencies were not different between the two groups
- Identifier
- R219K
- Cytogenetic Location
- 9q31.1
- UCSC Genome Browser
- View 9q31.1 on the UCSC genome browser
Gene details
- HGNC symbol
- ABCA1
- Aliases
- TGD; ABC1; CERP; ABC-1; HDLDT1
- Common name
- ATP binding cassette subfamily A member 1
- Description
- The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
- OMIM
- 600046
- Ensembl
- ENSG00000165029
- UniProt/Swiss-Prot
- ABCA1_HUMAN
- Entrez Gene
- 19
- UniGene
- 659274
- HapMap
- View on HapMap