Aliases for ABCD2 Gene
External Ids for ABCD2 Gene
Previous HGNC Symbols for ABCD2 Gene
Previous GeneCards Identifiers for ABCD2 Gene
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]
GeneCards Summary for ABCD2 Gene
ABCD2 (ATP Binding Cassette Subfamily D Member 2) is a Protein Coding gene. Diseases associated with ABCD2 include Adrenoleukodystrophy and Zellweger Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Nuclear Receptors in Lipid Metabolism and Toxicity. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD1.
UniProtKB/Swiss-Prot Summary for ABCD2 Gene