SCN11A Proteins

Protein 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).

同义词

FEPS3; hNaN; HSAN7; Nan; NaT; NaV1.9; NSS2; Peripheral nerve sodium channel 5; PN5; Scn11a; SCN12A; sensory neuron sodium channel 2; SNS2; SNS-2; Sodium channel protein type 11 subunit alpha; sodium channel protein type XI subunit alpha; sodium channel voltage-gated type 11 alpha polypeptide; sodium channel voltage-gated type XI alpha polypeptide; sodium channel, voltage gated, type XI alpha subunit; sodium channel, voltage-gated, type 11, alpha polypeptide; sodium channel, voltage-gated, type XI, alpha; 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 channel, voltage-gated, type11, alpha polypeptide; sodium voltage-gated channel alpha subunit 11; voltage-gated sodium channel NAV1.9b; voltage-gated sodium channel subunit alpha Nav1.9