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Symbol SCN10A contributors: mct/npt/pgu - updated : 08-02-2019
HGNC name sodium channel, voltage-gated, type X, alpha subunit
HGNC id 10582
corresponding disease(s) FEPS2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
may be one of the pathophysiological mechanisms involved in limb lengthening-induced neuropathy
constitutional germinal mutation     loss of function
associated with kidney stone disease
tumoral     --over  
functional upregulation of SCN10A channels on the membrane of DRG neurons contributes to the development of cancer-induced bone pain
  • to heart block
  • to Brugada syndrome
  • to sudden cardiac death
  • to Sudden unexplained nocturnal death syndrome (SUNDS)
  • Variant & Polymorphism other
  • rs6795970 is associated with a higher risk of heart block and a lower risk of ventricular fibrillation
  • variants at SCN5A-SCN10A associated with Brugada syndrome
  • association between genetic variation in SCN10A, the late sodium current, and alterations in cardiac conduction
  • variants involving SCN10A, which encodes a voltage-gated sodium channel, were already associated with alterations of cardiac conduction parameters and the cardiac rhythm disorder, thereby influencing the cardiac physiology and predisposing to arrhythmia, and sudden cardiac death
  • association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome
  • rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in hypertrophic cardiomyopathy (HCM) patients
  • Candidate gene
    Therapy target
    is a novel target in understanding cardiac electrophysiology and SCN10A-related arrhythmias
    immunologyautoimmunemultiple sclerosis
    could serve as a target for future drug-based interventions to treat cerebellar dysfunction in MS
  • PR interval is shorter in Scn10a-/-mice than in wild-type mice
  • dominant neurobehavioral phenotype termed Possum, characterized by transient whole-body tonic immobility induced by pinching the skin at the back of the neck (“scruffing”)