DDBDRAFT_0214891 antikoerper, DDBDRAFT_0219834 antikoerper, DDB_0214891 antikoerper, DDB_0219834 antikoerper, ABC39 antikoerper, ALDL1 antikoerper, ALDR antikoerper, ALDRP antikoerper, hALDR antikoerper, ATP binding cassette subfamily D member 2 antikoerper, ABC transporter D family protein antikoerper, ATP-binding cassette sub-family D member 2 antikoerper, ATP-binding cassette, sub-family D (ALD), member 2 antikoerper, ABCD2 antikoerper, abcD2 antikoerper, LOC100549247 antikoerper, abcd2 antikoerper, LOC100640478 antikoerper, Abcd2 antikoerper
Hintergrund
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.Synonyms: ALD1, ALDL1, ALDRP, ATP-binding cassette sub-family D member 2, Adrenoleukodystrophy-like 1, Adrenoleukodystrophy-related protein