Entrez gene ID | | 225 |
Official gene symbol | | ABCD2 |
Full name | | ATP-binding cassette, sub-family D (ALD), member 2 |
Aliases | | ,ABC39,ALDL1,ALDR,ALDRP,hALDR, |
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 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] |
Location | | Chromosome: 12 Locus: 12q11-q12 |
Gene position | | 40013843 - 39945022 Map Viewer |
Gene orientation | | minus |
Gene size | | 68822 bp |
Gene sequence |
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OMIM ID | | 601081 |
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