CA8
Chr 8ARcarbonic anhydrase 8 (inactive)
Also known as: CA-RP, CA-VIII, CALS, CAMRQ3, CARP, SCAR34
CA8 encodes a catalytically inactive carbonic anhydrase that localizes to the cerebellum and appears important for cerebellar function. Mutations cause autosomal recessive spinocerebellar ataxia type 34, which involves cerebellar dysfunction and movement disorders. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), suggesting some intolerance to complete loss of function.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
CA8 · 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