SCN3A

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]

Full Name

sodium channel, voltage-gated, type III, alpha subunit

Function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient (PubMed:24157691, PubMed:28235671, PubMed:29466837).
May contribute to the regulation of serotonin/5-hydroxytryptamine release by enterochromaffin cells (By similarity).
In pancreatic endocrine cells, required for both glucagon and glucose-induced insulin secretion (By similarity).

Biological Process

Biological Process membrane depolarization during action potentialManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neuronal action potentialManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of ion transmembrane transportIEA:UniProtKB-KW
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sodium ion transport1 PublicationNAS:UniProtKB

Cellular Location

Cell membrane

Involvement in disease

Epilepsy, familial focal, with variable foci 4 (FFEVF4):
An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life.
Developmental and epileptic encephalopathy 62 (DEE62):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE62 is characterized by onset of seizures in the first year of life.

PTM

May be ubiquitinated by NEDD4L; which would promote its endocytosis.
Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.