{"symbol":"ABCD3","synonyms":["ZWS2","ABC43","CBAS5","PMP70"],"name":"ATP-binding cassette, sub-family D (ALD), member 3","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. 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]","ncbiEntrezGeneId":5825,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5825","proteins":[{"symbol":"ABCD3_HUMAN","href":"/api/1.0/protein/ABCD3_HUMAN"}],"hgncRootFamilies":[{"name":"ATP binding cassette transporters (ABC)","href":"/api/1.0/gene_family/ATP+binding+cassette+transporters+%28ABC%29"}]}