SCN10A gene
The SCN10A gene provides instructions for making sodium channels that transmit pain signals and regulate heart rhythm, with variants linked to small fiber neuropathy and heart conditions.
Normal Function
The SCN10A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The SCN10A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.8. NaV1.8 sodium channels are found in nerve cells called nociceptors that transmit pain signals. In addition to nociceptors, NaV1.8 sodium channels have also been found in heart muscle cells where, by controlling the flow of sodium ions, they likely play a role in maintaining a normal heart rhythm.
Health Conditions Related to Genetic Changes
Small fiber neuropathy
Mutations in the SCN10A gene account for approximately 5 percent of cases of small fiber neuropathy, a condition characterized by severe pain attacks and a reduced ability to differentiate between hot and cold. Many of the mutations result in NaV1.8 sodium channels that open more easily than usual, increasing the flow of sodium ions that produce nerve impulses within nociceptors. This increase in sodium ions enhances transmission of pain signals, causing individuals to be more sensitive to stimulation that might otherwise not cause pain.
Other disorders
Certain common variants (polymorphisms) in the SCN10A gene have been found to increase the risk of developing an irregular heartbeat (arrhythmia). These polymorphisms lead to the production of an altered NaV1.8 sodium channel that can disrupt the electrical signals that control the heartbeat, specifically associated with a type of arrhythmia known as heart block.
Other Names for This Gene
- hPN3
- Nav1.8
- peripheral nerve sodium channel 3
- PN3
- SCNAA_HUMAN
- sodium channel protein type 10 subunit alpha
- sodium channel protein type X subunit alpha
- sodium channel, voltage gated, type X alpha subunit
- sodium channel, voltage-gated, type X, alpha polypeptide
- sodium channel, voltage-gated, type X, alpha subunit
- voltage-gated sodium channel subunit alpha Nav1.8
