GeneID: 296
Names
| Common Name: | SCN5A | Type: | Gene |
|---|---|---|---|
| Chromosome: | 3 (NC_000003.12) | Locus: | NG_008934.1 (SCN5A) |
| HUGO Symbol: | SCN5A | Full Name: | sodium voltage-gated channel alpha subunit 5 |
| Exons: | 28 | Introns: | 27 |
Description:
The SCN5A gene encodes the alpha-subunit of the voltage-gated sodium channel Nav1.5, which is responsible for the inward sodium current. This current is responsible for the initial upstroke of the action potential in an electrocardiogram. The SCN5A gene is expressed predominantly in cardiac muscle cells and plays key roles in these cells' ability to generate and transmit electrical signals. Genetic variance in SCN5A gene has been linked to cardiac arrhythmogenic disorders and cardiomyopathies. Also, variations in this gene associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).
Synonyms: Nav1.5 , LQT3 , HB1 , HBBD , PFHB1 , IVF , HB2 , HH1 , SSS1 , CDCD2 , CMPD2 , ICCD
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013
- Zaklyazminskaya E, Dzemeshkevich S, The role of mutations in the SCN5A gene in cardiomyopathies., Biochim. Biophys. Acta, 1863(7), 1799-805, 2016