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MYOCL2
Chr 12ADsodium voltage-gated channel alpha subunit 8
Also known as: BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6
The protein forms the ion pore region of voltage-gated sodium channels and is essential for rapid membrane depolarization during action potential formation in excitable neurons. Mutations cause familial myoclonus type 2, which is associated with cognitive disability, pancerebellar atrophy, and ataxia. This condition follows autosomal dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MYOCL2?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
MYOCL2 · 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
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External Resources
Links to major genomics databases and tools