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SCN4A

Chr 17q23.3

sodium voltage-gated channel alpha subunit 4

Aliases:
Nav1.4, HYPP, SkM1
MANE:
ENST00000435607.3
OMIM: 603967 ↗NCBI: 6329 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Acute rhabdomyolysis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital myaesthenic syndrome

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Rhabdomyolysis and metabolic muscle disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Skeletal Muscle Channelopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

  • paramyotonia congenita of Von Eulenburg

    0.84

  • hyperkalemic periodic paralysis

    0.83

  • potassium-aggravated myotonia

    0.81

  • hypokalemic periodic paralysis, type 2

    0.74

  • congenital myopathy 22B, severe fetal

    0.74

  • Congenital myasthenic syndromes

    0.70

  • hypokalemic periodic paralysis

    0.70

  • congenital myasthenic syndrome 16

    0.69

  • Seizure

    0.69

  • Pain

    0.67

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium channel protein type 4 subunit alpha

Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:17898326, PubMed:18690054, PubMed:19347921, PubMed:25707578, PubMed:26659129, PubMed:26700687, PubMed:29992740, PubMed:30190309). Highly expressed in skeletal muscles, Nav1.4 generates the action potential crucial for muscle contraction (PubMed:16890191, PubMed:19347921, PubMed:25707578, PubMed:26659129, PubMed:26700687)

Diseases associated with SCN4A

Curated MONDO disease pages that list SCN4A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.