ABCD1 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: Xq28

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

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

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

Disease: Adrenoleukodystrophy