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ABCD4 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.
Gene Name: | ATP-binding cassette, sub-family D (ALD), member 4 |
Family/Subfamily: | Transporter , ATP-binding cassette - ABCD/ALD |
Synonyms: | ABCD4, ABC41, EST352188, p70R, PMP70-related protein, MAHCJ, p79R, PMP69, PXMP1-L, PXMP1L |
Target Sequences: | NM_005050 NP_005041.1 O14678 |
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