PPCDC
phosphopantothenoylcysteine decarboxylase
Summary
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs188062049 | 15:75,319,731 | C/A | downstream gene variant | — |
| rs34029958 | 15:75,320,725 | G/T | — | benign |
| rs60425110 | 15:75,333,000 | T/A | intron variant | — |
| rs2120019 | 15:75,334,184 | T/C | intron variant | — |
| rs941173588 | 15:75,335,857 | A/C | — | uncertain significance |
| rs764009825 | 15:75,335,860 | G/A | — | uncertain significance |
| rs2542684994 | 15:75,335,864 | C/A | — | uncertain significance |
| rs147259525 | 15:75,335,872 | T/C | — | uncertain significance |
| rs2542685029 | 15:75,335,874 | G/C | — | uncertain significance |
| rs2304899 | 15:75,336,729 | G/A | — | benign |
| rs144990044 | 15:75,336,753 | T/A | — | likely benign |
| rs1108059 | 15:75,338,890 | A/C | intron variant | — |
| rs1867148 | 15:75,339,985 | T/G | — | — |
| rs143474017 | 15:75,340,900 | G/A | — | likely benign |
| rs777408463 | 15:75,340,906 | C/T | — | uncertain significance |
| rs745961364 | 15:75,340,918 | C/G | — | uncertain significance |
| rs777317908 | 15:75,340,934 | T/C | — | uncertain significance |
| rs201612097 | 15:75,340,943 | C/T | — | uncertain significance |
| rs748779178 | 15:75,340,985 | A/G | — | uncertain significance |
| rs764851842 | 15:75,341,047 | G/C | — | uncertain significance |
| rs200740294 | 15:75,341,483 | G/C | — | likely benign |
| rs368632547 | 15:75,341,522 | C/T | — | likely benign |
| rs146346759 | 15:75,341,523 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.