Preferred Label : SCN4A wt Allele;
NCIt synonyms : Na(V)1.4; Sodium Voltage-Gated Channel Alpha, Subunit 4 Gene; Sodium Channel, Voltage Gated, Type IV Alpha Subunit Gene; Sodium Voltage-Gated Channel Alpha Subunit 4 wt Allele; SkM1; CTC-264K15.6; Skeletal Muscle Voltage-Dependent Sodium Channel Type IV Alpha Subunit Gene; Sodium Channel, Voltage-Gated, Type IV, Alpha Subunit Gene; HOKPP2; CMS16; Skeletal Muscle Sodium Channel Alpha Subunit Gene; HYPP; Nav1.4; HYKPP; NAC1A; CMYP22A;
NCIt definition : Human SCN4A wild-type allele is located in the vicinity of 17q23.3 and is approximately
34 kb in length. This allele, which encodes sodium channel protein type 4 subunit
alpha protein, plays a role in the generation and propagation of action potentials
in neurons and skeletal muscle. Mutations in the gene are associated with classic
congenital myopathy 22A, severe fetal congenital myopathy 22B, hyperkalemic periodic
paralysis, hypokalemic periodic paralysis 2, congenital myasthenic syndrome 16, myotonia
SCN4A-related (atypical, potassium-aggravated, acetazolamide-responsive) and paramyotonia
congenita (von Eulenburg type).;
NCI Metathesaurus CUI : CL1927130;
GenBank Accession Number : U24693;
Origin ID : C205066;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
