Gene: ABCA8

Alternate names for this Gene: -

Gene Summary: 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. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.2

Description of this Gene: ATP binding cassette subfamily A member 8

Type of Gene: protein-coding

rs16973424 in ABCA8 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs36059695 in ABCA8 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs34931250 in ABCA8 gene and C-reactive protein measurement PMID 31070471 2019 Group IIA Secretory Phospholipase A2, Vascular Inflammation, and Incident Cardiovascular Disease.

rs1373067 in ABCA8 gene and High density lipoprotein measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

rs4148008 in ABCA8 gene and Serum HDL cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.