PDSS2
Chr 6ARdecaprenyl diphosphate synthase subunit 2
Also known as: C6orf210, COQ10D3, COQ1B, DLP1, bA59I9.3, hDLP1
The encoded enzyme catalyzes the condensation of farnesyl diphosphate and isopentenyl diphosphate to produce prenyl diphosphates that serve as precursors for the side chain of coenzyme Q10, which is essential for mitochondrial respiratory chain function. Mutations cause autosomal recessive primary coenzyme Q10 deficiency, which can present with cerebellar ataxia, seizures, and other neurological manifestations. The gene is highly tolerant to loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
PDSS2 · 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
External Resources
Links to major genomics databases and tools