ABCD3 Antibody – Rabbit Polyclonal

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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

ABCD3: a member of the superfamily of ATP-binding cassette (ABC) transporters. Likely plays an important role in peroxisome biogenesis. 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. Defects in ABCD3 may be the cause of Zellweger syndrome-2 (ZWS-2), an autosomal recessive disorder due to defective import mechanisms for peroxisomal matrix enzymes.

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

Chromosomal Location of Human Ortholog: 1p21.3

Cellular Component: peroxisomal membrane; peroxisomal matrix; intracellular membrane-bound organelle; membrane; mitochondrial inner membrane; integral to membrane; peroxisome; cytosol

Molecular Function: protein binding; protein homodimerization activity; ATPase activity, coupled to transmembrane movement of substances; ATPase activity; ATP binding

Biological Process: fatty acid beta-oxidation; peroxisome organization and biogenesis; very-long-chain fatty acid catabolic process; transmembrane transport

Disease: Bile Acid Synthesis Defect, Congenital, 5