SCN4A wt Allele

**Semantic type:** Gene or Genome

**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).

**Synonyms:** - CMS16 - CMYP22A - CTC-264K15.6 - HOKPP2 - HYKPP - HYPP - NAC1A - Na(V)1.4 - Nav1.4 - SkM1 - Skeletal Muscle Sodium Channel Alpha Subunit Gene - Skeletal Muscle Voltage-Dependent Sodium Channel Type IV Alpha Subunit Gene - Sodium Channel, Voltage Gated, Type IV Alpha Subunit Gene - Sodium Channel, Voltage-Gated, Type IV, Alpha Subunit Gene - Sodium Voltage-Gated Channel Alpha Subunit 4 wt Allele - Sodium Voltage-Gated Channel Alpha, Subunit 4 Gene