ABCD2 Products

Description

The protein encoded by the ABCD2 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABCproteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into sevendistinct 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 peroxisomalABC transporters are half transporters which require a partner half transporter molecule to form a functionalhomodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however thisprotein 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. Thisgene has been identified as a candidate for a modifier gene, accounting for the extreme variation amongadrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, agenetically heterogeneous disorder of peroxisomal biogenesis. (provided by RefSeq)

Bioinformatics

Entrez	225 Human
Uniprot	NM_005164 Human Q9UBJ2 Human
Product By Gene ID	225
Alternate Names	Adrenoleukodystrophy-like 1 Adrenoleukodystrophy-related protein ALD1 ALDL1ATP-binding cassette sub-family D member 2 ALDRhALDR ALDRPABC39 ATP-binding cassette, sub-family D (ALD), member 2