SCN1A Antibodies

Target Information

Epithelial sodium channels are amiloride-sensitive members of the Degenerin/epithelial sodium channel (Deg/ENaC) superfamily of ion channels. Members of this superfamily of ion channels share organizational similarity in that they all possess two short intracellular amino and carboxyl termini, two short membrane spanning segments, and a large extracellular loop with a conserved cysteine-rich region. There are three homologous isoforms of the ENaC (alpha, beta, and gamma) protein. ENaC in the kidney, lung, and colon plays an essential role in trans-epithelial sodium and fluid balance. ENaC also mediates aldosterone-dependent sodium reabsorption in the distal nephron of the kidney, thus regulating blood pressure. ENaC is thought to be regulated, in part, through association with the cystic fibrosis transmembrane conductance regulator (CFTR) chloride ion channel. Gain-of-function mutations in beta- or gamma-ENaC can cause severe arterial hypertension (Liddels syndrome) and loss-of-function mutations in alpha- or beta-ENaC causes pseudohypoaldosteronism (PHA-1).

Synonyms

3-Feb; B230332M13; BFIC3; BFIS3; BFNIS; brain III voltage-gated sodium channel; Brain Type I; cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit; CDCD2; CERIII; CIAT; CIN5; CMD1E; CMPD2; CMS16; CTC-264K15.6; EIEE11; EIEE13; EIEE6; ETHA; FEB3; FEB3A; FEB3B; FEPS2; FEPS3; FHM3; GEFS+2; GEFSP2; GEFSP7; HB1; HB2; HBA; HBBD; HBSC I; HBSC II; HBSCI; HBSCII; HH1; hNa6/Scn8a voltage-gated sodium channel; hNaN; hNE-Na; HOKPP2; hPN3; HSAN2D; HSAN7; HYKPP; HYPP; ICCD; IVF; KIAA1356; LQT3; MED; Na(v)1.2; Na(V)1.4; NAC1; NAC1A; NAC2; NAC3; NaCh6; NaN; Nav1.1; Nav1.2; Nav1.3; Nav1.4; Nav1.5; Nav1.6; Nav1.7; Nav1.8; NAV1.9; NENA; NE-NA; Neuroendocrine sodium channel; peripheral nerve sodium channel 3; Peripheral nerve sodium channel 5; peripheral sodium channel 1; PFHB1; PN1; PN3; PN4; PN5; RBI; SCN1; SCN10A; SCN11A; SCN12A; Scn1a; SCN2A; SCN2A1; SCN2A2; SCN3A; SCN4A; SCN5A; SCN8A; SCN9A; Sensory neuron sodium channel 2; SFNP; skeletal muscle sodium channel alpha subunit; skeletal muscle voltage-dependent sodium channel type IV alpha subunit; SkM1; SMEI; SNS; SNS2; SNS-2; Sodium channel protein brain I subunit alpha; sodium channel protein brain II subunit alpha; Sodium channel protein brain III subunit alpha; sodium channel protein cardiac muscle subunit alpha; Sodium channel protein skeletal muscle subunit alpha; sodium channel protein type 1 subunit alpha; Sodium channel protein type 10 subunit alpha; sodium channel protein type 11 subunit alpha; Sodium channel protein type 2 subunit alpha; sodium channel protein type 3 subunit alpha; Sodium channel protein type 4 subunit alpha; sodium channel protein type 5 subunit alpha; Sodium channel protein type 8 subunit alpha; sodium channel protein type 9 subunit alpha; Sodium channel protein type I subunit alpha; sodium channel protein type II subunit alpha; Sodium channel protein type III subunit alpha; sodium channel protein type IV subunit alpha; Sodium channel protein type IX subunit alpha; Sodium channel protein type V subunit alpha; Sodium channel protein type VIII subunit alpha; Sodium channel protein type X subunit alpha; sodium channel protein type XI subunit alpha; sodium channel protein, brain I alpha subunit; sodium channel protein, brain I subunit alpha; sodium channel protein, brain type 2 alpha subunit; sodium channel voltage gated type 1 alpha subunit; sodium channel voltage-gated type I alpha polypeptide; sodium channel, voltage gated, type I alpha subunit; sodium channel, voltage gated, type II alpha subunit; sodium channel, voltage gated, type III alpha subunit; sodium channel, voltage gated, type IV alpha subunit; sodium channel, voltage gated, type IX alpha subunit; sodium channel, voltage gated, type V alpha subunit; sodium channel, voltage gated, type VIII alpha subunit; sodium channel, voltage gated, type VIII, alpha subunit; sodium channel, voltage gated, type X alpha subunit; sodium channel, voltage gated, type XI alpha subunit; sodium channel, voltage-gated, type 1, alpha polypeptide; sodium channel, voltage-gated, type I, alpha; sodium channel, voltage-gated, type I, alpha polypeptide; sodium channel, voltage-gated, type I, alpha subunit; sodium channel, voltage-gated, type II, alpha 1 polypeptide; sodium channel, voltage-gated, type II, alpha 2 polypeptide; sodium channel, voltage-gated, type II, alpha subunit; sodium channel, voltage-gated, type III, alpha polypeptide; sodium channel, voltage-gated, type IV, alpha subunit; sodium channel, voltage-gated, type IX, alpha polypeptide; sodium channel, voltage-gated, type IX, alpha subunit; sodium channel, voltage-gated, type V, alpha subunit; sodium channel, voltage-gated, type X, alpha polypeptide; sodium channel, voltage-gated, type X, alpha subunit; sodium channel, voltage-gated, type XI, alpha polypeptide; sodium channel, voltage-gated, type XI, alpha subunit; sodium channel, voltage-gated, type XII, alpha polypeptide; sodium voltage-gated channel alpha subunit 1