Mouse Anti-SCN8A Recombinant Antibody (CBXS-3505) (CBMAB-S6234-CQ)

sodium channel, voltage gated, type VIII, alpha subunit

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.

Sodium Voltage-Gated Channel Alpha Subunit 8; Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit; Voltage-Gated Sodium Channel Subunit Alpha Nav1.6; MED; Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide; Sodium Channel, Voltage Gated, Type VIII Alpha Subunit; Voltage-Gated Sodium Channel Type VIII Alpha Protein; Sodium Channel Protein Type VIII Subunit Alpha; Sodium Channel Protein Type 8 Subunit Alpha;

Mediates the voltage-dependent sodium ion permeability of excitable membranes (PubMed:29726066).
Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.
Isoform 5
In macrophages and melanoma cells, may participate in the control of podosome and invadopodia formation.

Biological Process membrane depolarization during action potentialManual Assertion Based On ExperimentIBA:GO_Central
Biological Process myelinationISS:BHF-UCL
Biological Process nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process neuronal action potentialManual Assertion Based On ExperimentIBA:GO_Central
Biological Process peripheral nervous system developmentISS:BHF-UCL
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

Cognitive impairment with or without cerebellar ataxia (CIAT):
A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.
Developmental and epileptic encephalopathy 13 (DEE13):
A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.
Seizures, benign familial infantile, 5 (BFIS5):
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant.
Myoclonus, familial, 2 (MYOCL2):
An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life.

May be ubiquitinated by NEDD4L; which would promote its endocytosis.
Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.