Aliases for ACBD5 Gene
External Ids for ACBD5 Gene
Previous GeneCards Identifiers for ACBD5 Gene
This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GeneCards Summary for ACBD5 Gene
ACBD5 (Acyl-CoA Binding Domain Containing 5) is a Protein Coding gene. Diseases associated with ACBD5 include Retinal Dystrophy With Leukodystrophy and Thrombocytopenia. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and fatty-acyl-CoA binding. An important paralog of this gene is ACBD4.
UniProtKB/Swiss-Prot Summary for ACBD5 Gene
Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters.