LongevityMap Gene

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]
Cytogenetic Location
9q31.1
UCSC Genome Browser
View 9q31.1 on the UCSC genome browser
OMIM
600046
Ensembl
ENSG00000165029
UniProt/Swiss-Prot
ABCA1_HUMAN
Entrez Gene
19
UniGene
659274
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
abca1b
Mus musculus
Abca1
Rattus norvegicus
Abca1

Studies (1)

Significant/Non-significant: 0/1

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
Indentifier
R219K
Reference