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 sod...[+]

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. [-]

             familial atrial fibrillation
             Brugada syndrome 1
             dilated cardiomyopathy 1E
             long QT syndrome 1
             long QT syndrome 3
             progressive familial heart block
             progressive familial heart block type IA
             sick sinus syndrome
             sudden infant death syndrome

          CARDIOMYOPATHY, DILATED, 1E; CMD1E
          PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
          LONG QT SYNDROME 3; LQT3
          SICK SINUS SYNDROME 1; SSS1
          VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1
          ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10
          SUDDEN INFANT DEATH SYNDROME

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD