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SCA20
Chr 11ADspinocerebellar ataxia 20
Also known as: C11DUPq12, DUP11q12
SCA20 encodes a protein involved in cellular function, though its specific molecular role remains incompletely characterized. Mutations cause spinocerebellar ataxia 20, an autosomal dominant progressive cerebellar disorder typically presenting in adulthood with gait ataxia, dysarthria, and cerebellar dysfunction. The condition primarily affects the cerebellum and associated motor coordination pathways.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA20?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
SCA20 · 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 open access results found
External Resources
Links to major genomics databases and tools