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Loss of function variants in COASY are associated with lethal pontocerebellar hypoplasia and arthrogryposis.
The recruitment of COASY inhibits CBP-mediated TPX2 acetylation, promoting TPX2 degradation for mitotic exit.
The COASY protein contains a mitochondrial localization signal, a regulatory region and a domain for each of the two catalytic kinase domains: adenyl transferase and dephospho CoA
DNA methylation levels in the COASY and SPINT1 promoter regions were considered to potentially be a convenient and useful biomarker for diagnosis of Alzheimer's Disease and Amnestic Mild Cognitive Impairment.
Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
Exome sequencing revealed the presence of recessive missense mutations in COASY, encoding coenzyme A (CoA) synthase in neurodegeneration with brain iron accumulation
EDC4 might contribute to regulation of CoA biosynthesis in addition to its scaffold function in processing bodies
Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase).
description of the existence of a novel CoA synthase isoform, which is the product of alternative splicing and possesses a 29aa extension at the N-terminus; termed it CoASy beta
CoA synthase is involved in signaling events in the cell and forms a functional complex with p85alphaPI3K in vivo.
when pank2 or coasy expression was suppressed in zebrafish evident perturbation of neuronal development was observed, as well as severe defects in vasculature formation.
The abrogation of coasy expression led to strong reduction of CoA content, high lethality and a phenotype resembling to that of dorsalized mutants.
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. COASY is a bifunctional enzyme that catalyzes the 2 last steps in CoA synthesis. These activities are performed by 2 separate enzymes, phosphopantetheine adenylyltransferase (PPAT\; EC 184.108.40.206) and dephospho-CoA kinase (DPCK\; EC 220.127.116.11), in prokaryotes (Daugherty et al., 2002
bifunctional coenzyme A synthase
, bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase
, nucleotide binding protein
, phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase
, Coenzyme A synthase
, 4'-phosphopantetheine adenylyltransferase and dephospho-CoA kinase
, CoA synthase
, hypothetical protein
, bifunctional phosphopantetheine adenylyl transferase / dephospho CoA kinase