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SCA20

Chr 11AD

spinocerebellar ataxia 20

Also known as: C11DUPq12, DUP11q12

NCBI Gene: 407973 OMIM: 608687

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.

OMIM ResearchSummary from OMIM

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— SCA20

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SCA20?content-type=application/json&expand=1

gnomad: Error: Gene not found