NP_000024.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
82,937 Da
NCBI Official Full Name
ATP-binding cassette sub-family D member 1
NCBI Official Synonym Full Names
ATP-binding cassette, sub-family D (ALD), member 1
NCBI Protein Information
ATP-binding cassette sub-family D member 1; adrenoleukodystrophy protein
UniProt Protein Name
ATP-binding cassette sub-family D member 1
UniProt Synonym Protein Names
Adrenoleukodystrophy protein; ALDP
UniProt Entry Name
ABCD1_HUMAN
NCBI Summary for ABCD1
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]
UniProt Comments for ABCD1
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: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter, ABC family; Hydrolase
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: peroxisomal membrane; integral to peroxisomal membrane; membrane; mitochondrion; perinuclear region of cytoplasm; cytoplasm; peroxisome; cytosol
Molecular Function: identical protein binding; protein binding; protein homodimerization activity; enzyme binding; 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; fatty acid beta-oxidation; peroxisomal membrane transport; 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
Research Articles on ABCD1
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Products associated with anti-ABCD1 antibody
Pathways associated with anti-ABCD1 antibody
Diseases associated with anti-ABCD1 antibody
Organs/Tissues associated with anti-ABCD1 antibody
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