PPCDC Gene: Phosphopantothenoylcysteine Decarboxylase
Essential Enzyme in Coenzyme A Biosynthesis
Gene Information Card
| Symbol | PPCDC |
|---|---|
| Full Name | Phosphopantothenoylcysteine Decarboxylase |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 79713 ncbi.nlm.nih.gov/gene/79713 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q96CD2 |
| OMIM ID | 609849 |
| HGNC ID | 25799 |
| Aliases | PPC-DC, MDS006, FLJ10618 |
Description
The PPCDC gene encodes phosphopantothenoylcysteine decarboxylase, an enzyme that catalyzes the decarboxylation of phosphopantothenoylcysteine to phosphopantetheine, a key step in the biosynthesis of coenzyme A (CoA). CoA is essential for fatty acid metabolism, energy production, and numerous cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | Deficiency in CoA biosynthesis due to PPCDC mutations leads to mitochondrial dysfunction and iron accumulation. | ClinVar, OMIM |
| Pantothenate kinase-associated neurodegeneration (PKAN) | Indirect association via CoA pathway disruption; PPCDC mutations may phenocopy PKAN. | OMIM |
| Developmental delay and seizures | Impaired CoA synthesis affects neuronal development and synaptic function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 25.6 | Medium |
| Kidney | 18.3 | Medium |
| Brain | 12.1 | Low |
| Heart | 9.8 | Low |
| Skeletal muscle | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 22.4 | Hepatocellular carcinoma |
| HEK293 | 15.7 | Embryonic kidney |
| SH-SY5Y | 11.2 | Neuroblastoma |
| K562 | 8.9 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.200C>T (p.Thr67Ile) | Missense | <0.01% | Reduced enzyme activity |
| c.340G>A (p.Gly114Arg) | Missense | <0.01% | Impaired decarboxylase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr67Ile, p.Gly114Arg) reduce or abolish decarboxylase activity, impairing CoA synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphopantothenoylcysteine decarboxylase activity (GO:0004632) | • coenzyme A biosynthetic process (GO:0015937) |
| • mitochondrion (GO:0005739) | • cytosol (GO:0005829) |
Pathways
• Pantothenate and CoA biosynthesis (KEGG: hsa00770)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PPCDC is a 220-amino acid protein localized to the cytosol and mitochondria. It catalyzes the decarboxylation of phosphopantothenoylcysteine to phosphopantetheine, the penultimate step in CoA biosynthesis. The enzyme is essential for cellular metabolism, and mutations are associated with neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPCDC Knockout HEK293 Cell Line | EDJ-KQ14847 | Human | 60490 | Details Get a Quote |
| PPCDC Knockout A-549 Cell Line | EDJ-KQ45287 | Human | 60490 | Details Get a Quote |
| PPCDC Knockout HCT 116 Cell Line | EDJ-KQ45288 | Human | 60490 | Details Get a Quote |
| PPCDC Knockout HeLa Cell Line | EDJ-KQ45289 | Human | 60490 | Details Get a Quote |
