Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
SCA7
Chr 3ADataxin 7
Also known as: ADCAII, OPCA3, SCA7, SGF73
The protein acts as a component of the SAGA transcription coactivator complex and is necessary for microtubule cytoskeleton stabilization. Mutations cause spinocerebellar ataxia 7, a progressive neurodegenerative disorder characterized by cerebellar ataxia and retinal degeneration that distinguishes it from other spinocerebellar ataxias. The condition follows autosomal dominant inheritance with anticipation, where repeat expansions tend to increase in successive generations.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA7?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
SCA7 · 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
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGExternal Resources
Links to major genomics databases and tools