PDE6H
Chr 12ARphosphodiesterase 6H
Also known as: ACHM6, RCD3
The protein functions as the inhibitory gamma subunit of cone-specific cGMP phosphodiesterase, which is essential for phototransduction and visual signal transmission in retinal cone cells. Mutations cause achromatopsia 6, a retinal cone dystrophy affecting color vision and visual acuity, with autosomal recessive inheritance. This gene shows tolerance to loss-of-function variants (pLI 0.008, LOEUF 1.81), suggesting that complete loss of both copies is required for disease manifestation.
Primary Disease Associations & Inheritance
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
PDE6H · 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
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