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. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages. 5 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 12q13.13
Cellular Component:  axon initial segment; cytoplasmic vesicle; integral component of membrane; node of Ranvier; voltage-gated sodium channel complex; Z disc
Molecular Function:  ATP binding; protein binding; voltage-gated ion channel activity; voltage-gated sodium channel activity
Biological Process:  myelination; nervous system development; peripheral nervous system development; regulation of ion transmembrane transport; sodium ion transport
Disease: Cognitive Impairment With Or Without Cerebellar Ataxia; Epileptic Encephalopathy, Early Infantile, 13; Myoclonus, Familial, 2; Seizures, Benign Familial Infantile, 5
Reference #:  Q9UQD0 (UniProtKB)
Alt. Names/Synonyms: BFIS5; CerIII; CIAT; EIEE13; hNa6/Scn8a voltage-gated sodium channel; MED; motor endplate disease; MYOCL2; NaCh6; Nav1.6; PN4; SCN8A; Sodium channel protein type 8 subunit alpha; Sodium channel protein type VIII subunit alpha; sodium channel, voltage gated, type VIII, alpha subunit; sodium voltage-gated channel alpha subunit 8; Voltage-gated sodium channel subunit alpha Nav1.6; voltage-gated sodium channel type VIII alpha protein
Gene Symbols: SCN8A
Molecular weight: 225,280 Da
Basal Isoelectric point: 5.95  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein