PPCS Chromosome 1
Phosphopantothenoylcysteine synthetase
Upload your DNA to see your personal genotypes for variants in PPCS.
What This Gene Does
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
Associated Conditions (6)
Inborn genetic diseases
PPCS-related disorder
Cardiomyopathy
dilated
2c
Cardiovascular phenotype
Key Variants
RS199807362
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200337358
Conflicting classifications of pathogenicity
PPCS-related disorder, PPCS-related disorder
Health Risk
RS61745591
Conflicting classifications of pathogenicity
Cardiomyopathy, dilated, 2c
Health Risk
RS780467070
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS912203499
Likely pathogenic
Cardiomyopathy, dilated, 2c
Health Risk
RS1557776329
Pathogenic
Cardiomyopathy, dilated, 2c
Health Risk
RS1557778277
Pathogenic/Likely pathogenic
Cardiomyopathy, dilated, 2c
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199807362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200337358 | Health Risk | Conflicting classifications of pathogenicity | PPCS-related disorder, PPCS-related disorder |
| RS61745591 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, dilated, 2c |
| RS780467070 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS912203499 | Health Risk | Likely pathogenic | Cardiomyopathy, dilated, 2c |
| RS1557776329 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2c |
| RS1557778277 | Health Risk | Pathogenic/Likely pathogenic | Cardiomyopathy, dilated, 2c |