ATXN7
Chr 3ADataxin 7
The protein acts as a component of the SAGA transcription coactivator complex, mediating gene activation and microtubule cytoskeleton stabilization. Mutations cause spinocerebellar ataxia 7 (SCA7), an autosomal dominant progressive cerebellar ataxia that uniquely includes retinal degeneration among the spinocerebellar ataxias. The gene is highly constrained against loss-of-function variants, and the disorder involves CAG repeat expansion with anticipation across generations.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
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
ATXN7 · 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
External Resources
Links to major genomics databases and tools