Protein Name ATP-binding cassette, sub-family D member 2
Organism Mus musculus
Gene ID 26874
Gene Symbol

Abcd2

UniProt Q61285 (ABCD2_MOUSE), A0A0R4J0U5 (A0A0R4J0U5_MOUSE)
Relationships Total Number of functionally related compound(s) : 24
Total Number of Articles : 23
Description

ATP-binding cassette, sub-family D member 2

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, Jul 2008]

synonyms
  • ATP-binding cassette sub-family D member 2
  • ATP-binding cassette, sub-family D (ALD), member 2
  • adrenoleukodystrophy related
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Properties