ABCD1 Antibody – Mouse Monoclonal

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

ABCD1: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. Defects in ABCD1 are the cause of adrenoleukodystrophy X- linked (X-ALD). X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.

Protein type: Membrane protein, integral; Transporter, ABC family; Hydrolase; Transporter; Membrane protein, multi-pass; Mitochondrial

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: cytoplasm; cytosol; integral to peroxisomal membrane; membrane; mitochondrion; perinuclear region of cytoplasm; peroxisomal membrane; peroxisome

Molecular Function: ATP binding; ATPase activity; ATPase activity, coupled to transmembrane movement of substances; enzyme binding; identical protein binding; long-chain fatty acid transporter activity; peroxisomal fatty acyl CoA transporter activity; protein binding; protein homodimerization activity; transporter activity

Biological Process: fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; linoleic acid metabolic process; long-chain fatty acid catabolic process; peroxisomal long-chain fatty acid import; peroxisomal membrane transport; peroxisome organization and biogenesis; transmembrane transport; very-long-chain fatty acid catabolic process

Disease: Adrenoleukodystrophy