Cat. No.: GENE1355

ABCD3

Description ATP Binding Cassette Subfamily D Member 3
Category Protein Coding
GIFtS 44
GC id GC01P094418
Score 6.97
Entrez Gene Summary 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. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary ABCD3 (ATP Binding Cassette Subfamily D Member 3) is a Protein Coding gene. Diseases associated with ABCD3 include Bile Acid Synthesis Defect, Congenital, 5 and Zellweger Syndrome. Among its related pathways are Nuclear Receptors in Lipid Metabolism and Toxicity and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase-coupled transmembrane transporter activity. An important paralog of this gene is ABCD2.
Gene Database GeneCards: The Human Gene Database
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