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SCA1
Chr 4ADcaspase 3
Also known as: CPP32, CPP32B, SCA-1
The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. [provided by RefSeq, Aug 2017]
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SCA1?content-type=application/json
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
SCA1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Three Fraction Radiation to Induce Immuno-Oncologic Response
ACTIVE NOT RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGTime-restricted Eating Versus Daily Continuous Calorie Restriction on Body Weight and Colorectal Cancer Risk Markers
ACTIVE NOT RECRUITINGNatural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
RECRUITINGTesting Atorvastatin to Lower Colon Cancer Risk in Longstanding Ulcerative Colitis
ACTIVE NOT RECRUITINGStudy of Treatment With Sacituzumab and Zimberelimab for Patients With Lung Cancer Confined to the Chest and Previously Operated on Who Were Not Disease-free.
RECRUITINGExternal Resources
Links to major genomics databases and tools