CACNG7
Chr 19calcium voltage-gated channel auxiliary subunit gamma 7
The protein regulates AMPA-selective glutamate receptor trafficking and gating properties, specifically for GRIA1 and GRIA2 subunits, and also modulates L-type calcium channels containing CACNA1C. Mutations cause autosomal dominant cone-rod dystrophy, an inherited retinal degeneration affecting central vision that typically presents in childhood or adolescence. The gene is highly constrained against loss-of-function variation, indicating that such mutations are likely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CACNG7 · 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 →No open access results found
External Resources
Links to major genomics databases and tools