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SCA42
Chr 17ADcalcium voltage-gated channel subunit alpha1 G
Also known as: Ca(V)T.1, Cav3.1, NBR13, SCA42, SCA42ND
This gene encodes a T-type calcium channel that mediates calcium entry into excitable cells and generates transient, low-conductance currents involved in neuronal pacemaker activity and burst firing. Mutations cause spinocerebellar ataxia type 42, an autosomal dominant progressive cerebellar disorder. The condition typically involves the cerebellum and associated motor coordination pathways.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA42?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
SCA42 · 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 →External Resources
Links to major genomics databases and tools