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SCA1
Chr 4ADcaspase 3
Also known as: CPP32, CPP32B, SCA-1
The protein functions as a chromatin-binding factor that represses Notch signaling and is involved in brain development. Mutations cause spinocerebellar ataxia 1, a progressive neurodegenerative disorder primarily affecting the cerebellum and brainstem with typical adult onset. Inheritance is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA1?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
SCA1 · 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
Study of Treatment With Sacituzumab and Zimberelimab for Patients With Lung Cancer Confined to the Chest and Previously Operated on Who Were Not Disease-free.
RECRUITINGTime-restricted Eating Versus Daily Continuous Calorie Restriction on Body Weight and Colorectal Cancer Risk Markers
RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGThree Fraction Radiation to Induce Immuno-Oncologic Response
ACTIVE NOT RECRUITINGTesting Atorvastatin to Lower Colon Cancer Risk in Longstanding Ulcerative Colitis
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools