The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively charged sodium atoms (sodium ions) into cells. The sodium channels containing proteins produced from the SCN5A gene are abundant in heart (cardiac) muscle cells and play key roles in these cells’ ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm.
Other Names
HH1; LQT3; Nav1.5; SCN5A_HUMAN; Sodium channel protein, cardiac muscle alpha-subunit; sodium channel, voltage gated, type V alpha subunit; sodium channel, voltage-gated, type V, alpha (long QT syndrome 3); sodium channel, voltage-gated, type V, alpha subunit; SSS1
Related Genetics Topics
- Romano-Ward syndrome — MedlinePlus Genetics
- Brugada syndrome — MedlinePlus Genetics
- Familial atrial fibrillation — MedlinePlus Genetics
- Sick sinus syndrome — MedlinePlus Genetics
- Nonsyndromic dilated cardiomyopathy — MedlinePlus Genetics
- Progressive familial heart block — MedlinePlus Genetics
- Left ventricular noncompaction — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6331
- OMIM: 272120
- OMIM: 600163
- OMIM: 601154
- OMIM: 603829
- OMIM: 614022
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
