Recombinant Human Sodium channel protein type 2 subunit alpha (SCN2A), Truncated

Uniprot Id

Q99250

Target Species

Human

Target Name

SCN2A

Target Full Name

Sodium channel protein type 2 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. Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory.

Target Involvement

Seizures, benign familial infantile, 3 (BFIS3); Epileptic encephalopathy, early infantile, 11 (EIEE11)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein.

Target Protein Families

Sodium channel (TC 1.A.1.10) family, Nav1.2/SCN2A subfamily

Target Synonyms

HBSC II; NAC2; Scn2a; SCN2A_HUMAN; SCN2A1; SCN2A2; Sodium channel protein brain II subunit alpha; Sodium channel protein type 2 subunit alpha; Sodium channel protein type II subunit alpha; Sodium channel protein, brain II subunit alpha; Voltage gated sodium channel subunit alpha Nav1.2; Voltage-gated sodium channel subunit alpha Nav1.2

Target Background

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants.