{"symbol":"ABCD2","synonyms":["HALDR","ALDL1","ABC39","ALDR"],"name":"ATP-binding cassette, sub-family D (ALD), member 2","description":"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]","ncbiEntrezGeneId":225,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/225","proteins":[{"symbol":"ABCD2_HUMAN","href":"/api/1.0/protein/ABCD2_HUMAN"}],"hgncRootFamilies":[{"name":"ATP binding cassette transporters (ABC)","href":"/api/1.0/gene_family/ATP+binding+cassette+transporters+%28ABC%29"}]}