Tissue expression
Cell line expression
Protein structure
ABCD2
ATP binding cassette subfamily D member 2ALDL1, ALDR, ALDRP
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, Jul 2008]
Top validated antibodies |
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antibodies-online | ![]() |
1 references | Polyclonal |
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NSJ Bioreagents | ![]() |
Polyclonal (Antigen purified) |
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Abgent | ![]() |
Polyclonal |
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Biorbyt | ![]() |
Polyclonal |
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Abnova Corporation | ![]() |
Polyclonal |
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