SCN4A sodium voltage-gated channel alpha subunit 4

Gene ID: 6329, updated on 11-Jan-2025
Gene type: protein coding
Also known as: HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; CMYO22A; CMYP22A; Na(V)1.4

Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital myasthenic syndrome 16 MedGen: C3280112OMIM: 614198GeneReviews: Congenital Myasthenic Syndromes Overview	See labs
Congenital myopathy 22A, classic MedGen: C5830453OMIM: 620351GeneReviews: Not available	See labs
Congenital myopathy 22B, severe fetal MedGen: C5830501OMIM: 620369GeneReviews: Not available	See labs
Hypokalemic periodic paralysis, type 1 MedGen: C3714580OMIM: 170400GeneReviews: Hypokalemic Periodic Paralysis	See labs
Hypokalemic periodic paralysis, type 2 MedGen: C2750061OMIM: 613345GeneReviews: Hypokalemic Periodic Paralysis	See labs
not provided MedGen: C0238357OMIM: 170500GeneReviews: Hyperkalemic Periodic Paralysis	See labs
Paramyotonia congenita of Von Eulenburg MedGen: C0221055OMIM: 168300GeneReviews: Not available	See labs
Potassium-aggravated myotonia MedGen: C2931826OMIM: 608390GeneReviews: Not available	See labs

Genomic context

Location:: 17q23.3

Sequence:: Chromosome: 17; NC_000017.11 (63938554..63972918, complement)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SCN4A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) @ LOVD
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.