PDSS2 Gene
Decaprenyl Diphosphate Synthase Subunit 2
Gene Information Card
| Symbol | PDSS2 |
|---|---|
| Full Name | Decaprenyl Diphosphate Synthase Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 57107 ncbi.nlm.nih.gov/gene/57107 |
| Ensembl ID | ENSG00000164494 |
| UniProt ID | Q9BYJ9 |
| OMIM ID | 610564 |
| HGNC ID | 17708 |
| Aliases | COQ10D1, DPS, hDPS, C6orf210 |
Description
PDSS2 encodes a subunit of decaprenyl diphosphate synthase, an enzyme essential for the biosynthesis of coenzyme Q10 (ubiquinone), a key component of the mitochondrial electron transport chain. Mutations in PDSS2 cause primary coenzyme Q10 deficiency, leading to mitochondrial dysfunction and multisystem disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency 1 (COQ10D1) | Impaired coenzyme Q10 biosynthesis due to PDSS2 mutations reduces mitochondrial electron transport chain activity, leading to oxidative phosphorylation defects. | ClinVar, OMIM |
| Leigh syndrome | PDSS2 mutations disrupt mitochondrial energy production, contributing to neurodegenerative pathology. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Medium |
| Brain | 5.2 | Low |
| Skeletal muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.6 | High expression |
| HeLa | 10.2 | Moderate expression |
| HepG2 | 8.9 | Moderate expression |
| SH-SY5Y | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1138C>T (p.Arg380Trp) | Missense | Rare | Loss of enzyme activity; associated with COQ10D1 |
| c.1159G>A (p.Gly387Arg) | Missense | Rare | Impaired coenzyme Q10 synthesis |
| c.1042C>T (p.Arg348Cys) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg380Trp) reduce decaprenyl diphosphate synthase activity, impairing coenzyme Q10 biosynthesis.
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)
| • prenyltransferase activity (GO:0004659) | • ubiquinone biosynthetic process (GO:0006744) |
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • transferase activity (GO:0016740) |
Pathways
• Coenzyme Q10 biosynthesis (KEGG: hsa00130)
• Metabolic pathways (KEGG: hsa01100)
• Mitochondrial electron transport chain (Reactome: R-HSA-611105)
Protein Summary
PDSS2 encodes the catalytic subunit of decaprenyl diphosphate synthase, which catalyzes the elongation of the polyisoprenoid side chain of coenzyme Q10. The protein localizes to the mitochondrial inner membrane and is critical for electron transport and ATP synthesis. Defects in PDSS2 cause primary coenzyme Q10 deficiency, a mitochondrial disorder with variable clinical severity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDSS2 Knockout HEK293 Cell Line | EDJ-KQ14720 | Human | 57107 | Details Get a Quote |
| PDSS2 Knockout A-549 Cell Line | EDJ-KQ45048 | Human | 57107 | Details Get a Quote |
| PDSS2 Knockout HCT 116 Cell Line | EDJ-KQ45049 | Human | 57107 | Details Get a Quote |
| PDSS2 Knockout HeLa Cell Line | EDJ-KQ45050 | Human | 57107 | Details Get a Quote |
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