(ATP-Binding Cassette, Sub-Family D (Ald), Member 4 (ABCD4))
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, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008].
Coelho, Kim, Miousse, Fung, du Moulin, Buers, Suormala, Burda, Frapolli, Stucki, Nürnberg, Thiele, Robenek, Höhne, Longo, Pasquali, Mengel, Watkins, Shoubridge, Majewski, Rosenblatt, Fowler, Rutsch et al.: "Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. ..." in: Nature genetics, Vol. 44, Issue 10, pp. 1152-5, (2012) (PubMed).
Asheuer, Bieche, Laurendeau, Moser, Hainque, Vidaud, Aubourg: "Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy." in: Human molecular genetics, Vol. 14, Issue 10, pp. 1293-303, (2005) (PubMed).
Aliases for ABCD4 抗体
ATP binding cassette subfamily D member 4 (ABCD4) 抗体 ATP binding cassette subfamily D member 4 (Abcd4) 抗体 ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4) 抗体 ATP-binding cassette, sub-family D (ALD), member 4 (abcd4) 抗体 ATP-binding cassette, sub-family D (ALD), member 4 (Abcd4) 抗体 ABC41 抗体 ABCD4 抗体 EST352188 抗体 MAHCJ 抗体 P69r 抗体 P70R 抗体 P79R 抗体 PMP69 抗体 PXMP1L 抗体 Pxmp1l 抗体 zgc:153503 抗体