ABCD2 Antibody

Background:

The protein encoded by this gene is a member of thesuperfamily of ATP-binding cassette (ABC) transporters. ABCproteins transport various molecules across extra- andintra-cellular membranes. ABC genes are divided into seven distinctsubfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). Thisprotein is a member of the ALD subfamily, which is involved inperoxisomal import of fatty acids and/or fatty acyl-CoAs in theorganelle. All known peroxisomal ABC transporters are halftransporters which require a partner half transporter molecule toform a functional homodimeric or heterodimeric transporter. Thefunction of this peroxisomal membrane protein is unknown; howeverthis protein is speculated to function as a dimerization partner ofABCD1 and/or other peroxisomal ABC transporters. Mutations in thisgene have been observed in patients with adrenoleukodystrophy, asevere demyelinating disease. This gene has been identified as acandidate for a modifier gene, accounting for the extreme variationamong adrenoleukodystrophy phenotypes. This gene is also acandidate for a complement group of Zellweger syndrome, agenetically heterogeneous disorder of peroxisomal biogenesis.