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NEDSIS
Chr 22ADcalcium voltage-gated channel subunit alpha1 I
Also known as: Cav3.3, NEDSIS, ca(v)3.3
This gene encodes the pore-forming alpha subunit of a low voltage-activated, T-type calcium channel that mediates calcium signaling in neurons and has slower activation and inactivation kinetics compared to other T-type calcium channels. Mutations cause a neurodevelopmental disorder with speech impairment and with or without seizures, following an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDSIS?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
NEDSIS · 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