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FLASH GENE

Symbol

SCN10A

contributors: mct/npt/pgu - updated : 08-02-2019

HGNC name	sodium channel, voltage-gated, type X, alpha subunit
HGNC id	10582

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FEPS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

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
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular rythm   is a novel target in understanding cardiac electrophysiology and SCN10A-related arrhythmias immunology autoimmune multiple sclerosis could serve as a target for future drug-based interventions to treat cerebellar dysfunction in MS

ANIMAL & CELL MODELS

	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”)