| Gene Symbol | SCN5A |
| Entrez Gene ID | 6331 |
| Full Name | sodium voltage-gated channel alpha subunit 5 |
| Synonyms | CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Long QT syndrome-3, 603830 (3); Brugada syndrome 1, 601144 (3); Heart block, progressive, type IA, 113900 (3); Heart block, nonprogressive, 113900 (3); Ventricular fibrillation, familial, 1, 603829 (3); Sick sinus syndrome 1, 608567 (3); Cardiomyopathy, dilated, 1E, 601154 (3); {Sudden infant death syndrome, susceptibility to}, 272120 (3); Atrial fibrillation, familial, 10, 614022 (3) |
User Manual
