Rabbit anti-Human SCN8A Polyclonal Antibody

Uniprot Id

Q9UQD0

Target Species

Human

Target Name

SCN8A

Target Full Name

Sodium channel protein type 8 subunit alpha

Target 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, may participate in the control of podosome and invadopodia formation.

Target Involvement

Cognitive impairment with or without cerebellar ataxia (CIAT); Epileptic encephalopathy, early infantile, 13 (EIEE13); Seizures, benign familial infantile, 5 (BFIS5)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell projection, axon.; [Isoform 5]: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.

Target Protein Families

Sodium channel (TC 1.A.1.10) family, Nav1.6/SCN8A subfamily

Target Tissue Specificity

Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level). Isoform 5: Expressed in non-neuronal tissues, such as monocytes/macrophages.

Target Synonyms

CerIII; CIAT; EIEE13; hNa6/Scn8a voltage gated sodium channel; MED; Motor endplate disease; NaCh 6; NaCh6; Nav 1.6; Nbna1; peripheral nerve protein type 4; PN 4; PN4; SCN8A; SCN8A_HUMAN; Sodium channel protein type 8 alpha subunit; Sodium channel protein type 8 subunit alpha; Sodium channel protein type VIII alpha subunit; Sodium channel protein type VIII subunit alpha; Sodium channel voltage gated type VIII alpha; Sodium channel voltage gated type VIII alpha polypeptide; Sodium channel voltage gated type VIII alpha subunit; Voltage gated sodium channel subunit alpha Nav1.6; Voltage-gated sodium channel subunit alpha Nav1.6