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CACNB4 - calcium voltage-gated channel auxiliary subunit beta 4
- Synonym(s) : EJM4
- Previous symbols and names : calcium channel, voltage-dependent, beta 4 subunit
- Type : gene with protein product
- Chromosomal location : 2q23.3
- OMIM: 601949
- HGNC: 1404
- UniProtKB: O00305
- Genatlas: CACNB4
- GenCC: CACNB4
- Ensembl: ENSG00000182389
- IUPHAR-DB: -
- Reactome: O00305
- LOVD: CACNB4
Diseases list
- Disease-causing germline mutation(s) in Episodic ataxia type 5
ORPHA:211067 
- Disease-causing germline mutation(s) in Juvenile myoclonic epilepsy
ORPHA:307
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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