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

Homologs in model organisms

Caenorhabditis elegans
abt-2
Danio rerio
abca1b
Danio rerio
abca1a
Mus musculus
Abca1
Rattus norvegicus
Abca1

References

Arai et al. (2003)

Other variants which are also part of this study