Aliases for ABCD1 Gene
External Ids for ABCD1 Gene
Previous HGNC Symbols for ABCD1 Gene
Previous GeneCards Identifiers for ABCD1 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. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCD1 Gene
ABCD1 (ATP Binding Cassette Subfamily D Member 1) is a Protein Coding gene. Diseases associated with ABCD1 include Adrenoleukodystrophy and Hypoadrenocorticism, Familial. Among its related pathways are alpha-linolenic acid (ALA) metabolism and Peroxisomal lipid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is ABCD2.
UniProtKB/Swiss-Prot for ABCD1 Gene
Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.