ABCA1 Antibody – Rabbit Polyclonal

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]

Function: cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.

Subunit structure: Interacts with MEGF10. Ref.11

Subcellular location: Membrane; Multi-pass membrane protein Ref.13 Ref.14.

Tissue specificity: Widely expressed, but most abundant in macrophages.

Induction: By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202. Ref.10

Domain: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

Post-translational modification: Phosphorylation on Ser-2054 regulates phospholipid efflux.Palmitoylation by DHHC8 is essential for membrane localization. Ref.13

Involvement in disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.43High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.19 Ref.21 Ref.27 Ref.28 Ref.43 Ref.44

Sequence similarities: Belongs to the ABC transporter superfamily. ABCA family.Contains 2 ABC transporter domains.

Sequence caution: The sequence AAD49849.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAA10005.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.