Aliases for ABCD4 Gene
External Ids for ABCD4 Gene
Previous HGNC Symbols for ABCD4 Gene
Previous GeneCards Identifiers for ABCD4 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, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]
GeneCards Summary for ABCD4 Gene
ABCD4 (ATP Binding Cassette Subfamily D Member 4) is a Protein Coding gene. Diseases associated with ABCD4 include Methylmalonic Aciduria And Homocystinuria, Cblj Type and Disorders Of Intracellular Cobalamin Metabolism. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD2.
UniProtKB/Swiss-Prot Summary for ABCD4 Gene
Lysosomal transporter that plays a role in the lysosomal release of vitamin B12 into the cytosol (PubMed:22922874). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791).