Aliases: FLJ11838.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Cardiomyopathy Dilated 2C |
untyped
Causative biallelic hypomorphic variants (autosomal recessive). The evidence is 12 patients in eight families from three reports. p.Glu233Val recurs in three families (B/F6 and F5 consanguineous, F3 not). Support comes from segregation, absence of the missense alleles from gnomAD, yeast complementation for the original alleles, reduced PPCS protein and CoA in patient cells, and a Drosophila hypomorph with cardiac dysfunction. ClinGen has not curated this gene-disease pair.
germline
partial loss of function
|
mechanism: Compound Heterozygous PPCS Variants; Homozygous PPCS Missense Variants; Reduced PPCS Protein Stability
|
| Dilated Cardiomyopathy |
untyped
Autosomal recessive causal pathogenic variant. PPCS catalyses the second step of de novo coenzyme A biosynthesis from vitamin B5. Biallelic variants were found in five individuals from two unrelated families presenting with dilated cardiomyopathy, with reduced CoA levels in fibroblasts. This is a cofactor-biosynthesis lesion rather than a sarcomeric or cytoskeletal one, and CoA can be made from pantethine independently of PPCS, which is why pantethine was proposed as a targeted treatment.
|
mechanism: Coenzyme A Biosynthesis Deficiency
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.