(ATP-Binding Cassette, Sub-Family D (ALD), Member 2 (Abcd2))
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].
ATP binding cassette subfamily D member 2 (ABCD2) 抗体 ABC transporter D family protein (abcD2) 抗体 ATP-binding cassette sub-family D member 2 (LOC100549247) 抗体 ATP binding cassette subfamily D member 2 (abcd2) 抗体 ATP-binding cassette sub-family D member 2 (LOC100640478) 抗体 ATP-binding cassette, sub-family D (ALD), member 2 (Abcd2) 抗体 ATP binding cassette subfamily D member 2 (Abcd2) 抗体 ABC39 抗体 ALDL1 抗体 ALDR 抗体 ALDRP 抗体 DDBDRAFT_0214891 抗体 DDBDRAFT_0219834 抗体 DDB_0214891 抗体 DDB_0219834 抗体 hALDR 抗体