SCN8A Antibody – Mouse Monoclonal

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.[provided by RefSeq, May 2010]

SCN8A: Mediates the voltage-dependent sodium ion permeability of excitable membranes. 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. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation. Defects in SCN8A are the cause of 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. Defects in SCN8A are the cause of epileptic encephalopathy, early infantile, type 13 (EIEE13). 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. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: voltage-gated sodium channel complex; cell soma; cytoplasmic membrane-bound vesicle; dendrite; integral to membrane; plasma membrane; Z disc

Molecular Function: voltage-gated sodium channel activity; ATP binding

Biological Process: myelination; nervous system development; muscle development; sensory perception of sound; response to toxin; neuromuscular process; sodium ion transport; generation of action potential; adult walking behavior; peripheral nervous system development

Disease: Epileptic Encephalopathy, Early Infantile, 13; Cognitive Impairment With Or Without Cerebellar Ataxia