Aliases for COASY Gene
External Ids for COASY Gene
Previous GeneCards Identifiers for COASY Gene
Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]
GeneCards Summary for COASY Gene
COASY (Coenzyme A Synthase) is a Protein Coding gene. Diseases associated with COASY include Neurodegeneration With Brain Iron Accumulation 6 and Coasy-Associated Neurodegeneration. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Pantothenate and CoA biosynthesis. GO annotations related to this gene include dephospho-CoA kinase activity and pantetheine-phosphate adenylyltransferase activity.
UniProtKB/Swiss-Prot for COASY Gene
Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation.