SCN8A : sodium voltage-gated channel alpha subunit 8
Description
The SCN8A (sodium voltage-gated channel alpha subunit 8) is a protein-coding gene located on chromosome 12.
The SCN8A gene provides instructions for making a sodium channel, a protein that allows positively charged sodium ions to flow into cells. This is essential for generating and transmitting electrical signals in nerve cells. The SCN8A gene specifically codes for the alpha subunit of the Nav1.6 sodium channel, which is found in neurons of the brain, spinal cord, and peripheral nervous system. Nav1.6 channels control the flow of sodium ions, enabling communication between neurons.
The SCN8A gene produces a protein called Nav1.6, which forms a sodium-selective channel in the cell membrane. This channel opens or closes in response to changes in voltage across the membrane, allowing sodium ions to pass through according to their electrochemical gradient. This process is crucial for the transmission of electrical signals in nerve cells.
SCN8A is also known as BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4.
Associated Diseases
- Infantile convulsions and choreoathetosis
- Cognitive impairment with or without cerebellar ataxia
- Benign familial infantile epilepsy
- Seizures, benign familial infantile, 5
- Epileptic encephalopathy, early infantile, 13
- Non-specific early-onset epileptic encephalopathy
- Myoclonus, familial, 2
- Lennox-Gastaut syndrome
- SCN8A-related epilepsy with encephalopathy
