PDSS1
Chr 10ARdecaprenyl diphosphate synthase subunit 1
Also known as: COQ1, COQ10D2, COQ1A, DPS, SPS, TPRT, TPT, TPT 1
The encoded enzyme catalyzes the condensation of farnesyl diphosphate and isopentenyl diphosphate to produce prenyl diphosphates that serve as precursors for the side chains of ubiquinone-9 and ubiquinone-10 (coenzyme Q), essential components of the mitochondrial respiratory chain. Mutations cause primary coenzyme Q10 deficiency type 2, a multisystem disorder that can present with encephalomyopathy, nephropathy, and cerebellar ataxia. This condition follows autosomal recessive inheritance.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PDSS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools