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20700 44th Avenue W
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ABCD2 / ALDR
ATP-binding cassette, sub-family D (ALD), member 2
ABCD2 / ALDR 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.
| Gene Name: | ATP-binding cassette, sub-family D (ALD), member 2 |
| Family/Subfamily: | Transporter , ATP-binding cassette - ABCD/ALD |
| Synonyms: | ABCD2, ALD1, ALDL1, ALDRP, ALDR, ABC39, Adrenoleukodystrophy-like 1, HALDR |
| Target Sequences: | NM_005164 NP_005155.1 Q9UBJ2 |
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