Entrez gene ID | | 5826 |
Official gene symbol | | ABCD4 |
Full name | | ATP-binding cassette, sub-family D (ALD), member 4 |
Aliases | | ,ABC41,EST352188,P70R,P79R,PMP69,PXMP1L, |
Gene summary | | 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] |
Location | | Chromosome: 14 Locus: 14q24.3 |
Gene position | | 74769767 - 74751980 Map Viewer |
Gene orientation | | minus |
Gene size | | 17788 bp |
Gene sequence |
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OMIM ID | | 603214 |
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