SCN4A Gene - CISMeF

Preferred Label : SCN4A Gene;

NCIt synonyms : Sodium Voltage-Gated Channel Alpha Subunit 4 Gene; SCN4A;

NCIt definition : This gene is involved in muscle fiber excitability, muscle contraction and relaxation cycles, and maintenance of muscle strength.;

Détails

Origin ID

C205065;

HGNC gene
- sodium voltage-gated channel alpha subunit 4 [HGNC gene]
OMIM relation
- Sodium voltage-gated channel, alpha subunit 4 [OMIM gene]
gene_encodes_gene_product
- Sodium Channel Protein Type 4 Subunit Alpha [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Hyperkalemic Periodic Paralysis [NCIt concept]
- Myotonia Fluctuans [NCIt concept]
- Normokalemic Periodic Paralysis [NCIt concept]
- Paramyotonia Congenita [NCIt concept]
- Paramyotonia Congenita without Cold Paralysis [NCIt concept]
- Potassium Aggravated Myotonia [NCIt concept]
- Severe Neonatal Episodic Laryngospasm [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Sodium Ion Channel Activation [NCIt concept]

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