SCN2A è un gene codificato dal simbolo SCN2A. È noto anche come: Sodium channel protein type 2 subunit alpha; HBSC II; Sodium channel protein brain II subunit alpha; Sodium channel protein type II subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.2; NAC212. SCN2A ha una massa di 227.98kDa, una lunghezza di amminoacidi di 2005, ed è implicato nella malattia: Seizures, benign familial infantile, 3; Epileptic encephalopathy, early infantile, 11.
Offriamo 3 anticorpi contro SCN2A, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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 (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity).
Sommario di Entrez
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.
Coinvolgimento nella malattia
Seizures, benign familial infantile, 3: 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. BFIS3 inheritance is autosomal dominant.
Epileptic encephalopathy, early infantile, 11: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
Somiglianze di sequenza
Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
Modifica post-translazionale
May be ubiquitinated by NEDD4L; which would promote its endocytosis.
Posizione cellulare
Cell membrane.
