PPCS

PPCS (Phosphopantothenoylcysteine Synthetase) is a protein coding gene. Diseases associated with PPCS include Pleural Disease. Among its related pathways are Metabolismand Metabolism of water-soluble vitamins and cofactors. Gene Ontology annotations related to this gene include phosphopantothenate--cysteine ligase activity.

Full Name

phosphopantothenoylcysteine synthetase

Function

Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768).
Has a preference for ATP over CTP as a cosubstrate (PubMed:11923312).

Biological Process

Acetyl-CoA biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Coenzyme A biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Heart processManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

cytoplasm
cytosol
nucleus

Involvement in disease

Cardiomyopathy, dilated 2C (CMD2C):
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children.