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SCA41
Chr 4ADtransient receptor potential cation channel subfamily C member 3
Also known as: SCA41, TRP3
The protein encoded by this gene is a membrane calcium channel that forms non-selective channels permeable to calcium and other cations, activated by receptor tyrosine kinase signaling and intracellular calcium store depletion. Mutations cause spinocerebellar ataxia 41, a progressive cerebellar disorder with autosomal dominant inheritance. The association between this gene and the ataxia phenotype is still being established, as indicated by the provisional nature of this gene-disease relationship.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA41?content-type=application/json&expand=1
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCA41 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools