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SCA20

Chr 11AD

spinocerebellar 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.

GeneReviewsOMIMResearchSummary from OMIM
AD1 OMIM phenotype
Clinical SummarySCA20
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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GeneReview available — SCA20
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found