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SCA4
Chr 16ADspinocerebellar ataxia 4
The SCA4 gene encodes a protein whose specific function has not been definitively established. Mutations cause spinocerebellar ataxia type 4, an adult-onset autosomal dominant cerebellar disorder characterized by progressive ataxia, sensory axonal neuropathy, and often accompanied by pyramidal signs. The condition typically presents in adulthood and primarily affects the cerebellum and peripheral nervous system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCA4 · 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