|Description:||Rabbit polyclonal antibody to SCN8A.|
|Dilutions:||WB: 1:200 - 1:1000.|
|Immunogen:||Recombinant protein of human SCN8A.|
|Formulation:||Supplied in Phosphate Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 50% Glycerol.|
|Storage:||Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.|
|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, 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.|
|Tissue Specificity:||Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages.|
|Involvement in Disease:||Cognitive impairment with or without cerebellar ataxia: 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.
Epileptic encephalopathy, early infantile, 13: 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.
Seizures, benign familial infantile, 5: 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.
|Sequence Similarities:||Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.|
|Post-Translational Modification:||May be ubiquitinated by NEDD4L; which would promote its endocytosis.|
|Cellular Location:||Cell membrane.|