ABCA8 Chromosome 17
ATP binding cassette subfamily A member 8
Upload your DNA to see your personal genotypes for variants in ABCA8.
What This Gene Does
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. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
ATP binding cassette subfamily A
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000141338
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140095797 | Health Risk | Conflicting classifications of pathogenicity | — |