| Entrez gene ID | | 26874 |
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| Official gene symbol | | Abcd2 |
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| Full name | | ATP-binding cassette, sub-family D (ALD), member 2 |
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| Aliases | | ABC39,ALDL1,ALDR,ALDRP |
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| Gene summary | | The membrane-associated 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 the human 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] |
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| Location | | Chromosome: 15 Locus: 15 E-F |
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| Gene position | | 91022238 - 90976302 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 45937 bp |
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| Gene sequence |
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