PDSS2

Chr 6AR

decaprenyl diphosphate synthase subunit 2

Also known as: C6orf210, COQ10D3, COQ1B, DLP1, bA59I9.3, hDLP1

NCBI Gene: 57107ENSG00000164494UniProt: Q86YH6OMIM: 610564

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Coenzyme Q10 deficiency, primary, 3MIM #614652
AR

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.13
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — PDSS2
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.13LOEUF
pLI 0.000
Z-score 1.12
OE 0.72 (0.48–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.47Z-score
OE missense 0.91 (0.81–1.02)
196 obs / 215.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.48–1.13)
0≤0.351.4
Missense OE?0.91 (0.81–1.02)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 14 / 19.3Missense obs/exp: 196 / 215.6Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients