CACNG8
Chr 19calcium voltage-gated channel auxiliary subunit gamma 8
The encoded protein is a transmembrane AMPA receptor regulatory protein (TARP) that regulates trafficking and gating properties of AMPA-selective glutamate receptors and modulates L-type calcium channel activity. Mutations cause early-onset epileptic encephalopathy with severe developmental delays and intellectual disability, following an autosomal recessive inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating critical importance for normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CACNG8 · 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