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. Note: This description may include information from UniProtKB.
Protein type: Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, ABC family
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