SCN3A
Description
The SCN3A (sodium voltage-gated channel alpha subunit 3) is a protein-coding gene located on chromosome 2.
SCN3A is a gene that encodes a protein crucial for the generation and propagation of action potentials in neurons and muscle cells. It forms part of a family of genes that code for sodium channel alpha subunits, which are essential components of voltage-gated sodium channels. These channels are transmembrane glycoproteins, composed of a large alpha subunit and smaller beta subunits. SCN3A plays a key role in brain development, particularly in the folding of the cerebral cortex and in areas involved in speech production.
SCN3A plays a critical role in regulating the flow of sodium ions across the membranes of excitable cells, such as neurons and muscle cells. It acts as a voltage-gated channel, opening and closing in response to changes in the electrical potential across the membrane. This allows sodium ions to move through the channel, following their electrochemical gradient, contributing to the generation and propagation of nerve impulses. There is evidence that SCN3A may also be involved in serotonin release from enterochromaffin cells and in insulin secretion from pancreatic cells.
SCN3A is also known as DEE62, EIEE62, FFEVF4, NAC3, Nav1.3.
Associated Diseases
- Epilepsy, familial focal, with variable foci 4
- Non-specific early-onset epileptic encephalopathy
- Developmental and epileptic encephalopathy 62
