COASY

COASY (Coenzyme A Synthase) is a Protein Coding gene. Diseases associated with COASY include Neurodegeneration With Brain Iron Accumulation 6 and Coasy Protein-Associated Neurodegeneration. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include dephospho-CoA kinase activity and pantetheine-phosphate adenylyltransferase activity.

Full Name

Coenzyme A Synthase

Function

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.

Biological Process

Coenzyme A biosynthetic process Source: UniProtKB

Cellular Location

Mitochondrion matrix; Cytoplasm. The protein is mainly present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane, but is also present in cell lysate.

Involvement in disease

Neurodegeneration with brain iron accumulation 6 (NBIA6):
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism.
Pontocerebellar hypoplasia 12 (PCH12):
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures.