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SCN4A - sodium voltage-gated channel alpha subunit 4
- Synonym(s) : HYPP, Nav1.4, SkM1
- Previous symbols and names : HYKPP, sodium channel, voltage gated, type IV alpha subunit, sodium channel, voltage-gated, type IV, alpha subunit
- Type : gene with protein product
- Chromosomal location : 17q23.3
- OMIM: 603967
- HGNC: 10591
- UniProtKB: P35499
- Genatlas: SCN4A
- GenCC: SCN4A
- Ensembl: ENSG00000007314
- IUPHAR-DB: 581
- Reactome: P35499
- LOVD: SCN4A
Diseases list
- Disease-causing germline mutation(s) in Acetazolamide-responsive myotonia
ORPHA:99736 
- Disease-causing germline mutation(s) in Hypokalemic periodic paralysis
ORPHA:681 - Disease-causing germline mutation(s) in Myotonia fluctuans
ORPHA:99734 - Disease-causing germline mutation(s) in Myotonia permanens
ORPHA:99735 - Disease-causing germline mutation(s) in Paramyotonia congenita of Von Eulenburg
ORPHA:684 - Disease-causing germline mutation(s) in Postsynaptic congenital myasthenic syndromes
ORPHA:98913 - Disease-causing germline mutation(s) (gain of function) in Hyperkalemic periodic paralysis
ORPHA:682
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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