SCN3A Chromosome 2

Sodium voltage-gated channel alpha subunit 3
106 variants 106 Health Risk

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What This Gene Does
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, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000153253
Associated Conditions (13)
Inborn genetic diseases
SCN3A-related disorder
Epilepsy
familial focal
with variable foci 4
Developmental and epileptic encephalopathy
62
Seizure
Neurodevelopmental disorder
atypical cerebral palsy
Polymicrogyria
Developmental delay
Congenital bilateral perisylvian syndrome
Key Variants
All Variants (106)
RSID Category Clinical Significance Conditions
RS2105895111 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS797044933 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057520753 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy
RS1199412903 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62, Congenital bilateral perisylvian syndrome
RS2105619771 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62, Epilepsy
RS2105636234 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy
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