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SCA41

Chr 4AD

transient 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.

OMIMResearchSummary from RefSeq, OMIM
AD1 OMIM phenotype
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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found