PPCS

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).

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5.

Belongs to the PPC synthetase family.

COAB, PPCS, Phosphopantothenate--cysteine ligase, Phosphopantothenoylcysteine synthetase, PPC synthetase

• entrezGene:79717
• omim:609853
• swissprot:Q9HAB8

Proteins

Immunology & Infectious Disease

34005Da