ABCD2 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. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]

ABCD2: Probable transporter. 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; Transporter, ABC family

Chromosomal Location of Human Ortholog: 12q12

Cellular Component: peroxisomal membrane; mitochondrion; intracellular membrane-bound organelle; integral to membrane; peroxisome; cytosol

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

Biological Process: fatty acid beta-oxidation; very-long-chain fatty acid metabolic process; very-long-chain fatty acid catabolic process; transmembrane transport; positive regulation of fatty acid beta-oxidation