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SCN10A

SCN10A

Reviewed November 2012

What is the official name of the SCN10A gene?

The official name of this gene is “sodium channel, voltage-gated, type X, alpha subunit.”

SCN10A is the gene's official symbol. The SCN10A gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SCN10A gene?

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. Nociceptors are part of the peripheral nervous system, which connects the brain and spinal cord to cells that detect sensations such as touch, smell, and pain. Nociceptors are primarily involved in transmitting pain signals. The centers of nociceptors, known as the cell bodies, are located in a part of the spinal cord called the dorsal root ganglion. Fibers called axons extend from the cell bodies, reaching throughout the body to receive sensory information. 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.

Does the SCN10A gene share characteristics with other genes?

The SCN10A gene belongs to a family of genes called SCN (sodium channels).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SCN10A gene related to health conditions?

small fiber neuropathy - caused by mutations in the SCN10A gene

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. The mutations that cause this condition change single protein building blocks (amino acids) in the alpha subunit of the NaV1.8 sodium channel. 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. In this condition, the small fibers that extend from the nociceptors and transmit pain signals (axons) degenerate over time. The cause of this degeneration is unknown, but it likely accounts for signs and symptoms such as the loss of temperature differentiation.

other disorders - associated with the SCN10A gene

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, changes in the SCN10A gene are associated with a type of arrhythmia known as heart block. Heart block occurs when the heart's electrical signals are slowed down or interrupted. It is unknown how changes to the NaV1.8 sodium channel lead to heart block.

Where is the SCN10A gene located?

Cytogenetic Location: 3p22.2

Molecular Location on chromosome 3: base pairs 38,697,345 to 38,794,009

The SCN10A gene is located on the short (p) arm of chromosome 3 at position 22.2.

The SCN10A gene is located on the short (p) arm of chromosome 3 at position 22.2.

More precisely, the SCN10A gene is located from base pair 38,697,345 to base pair 38,794,009 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SCN10A?

You and your healthcare professional may find the following resources about SCN10A helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SCN10A gene or gene products?

  • 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 polypeptide
  • voltage-gated sodium channel subunit alpha Nav1.8

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SCN10A?

acids ; arrhythmia ; axons ; cell ; channel ; differentiation ; gene ; ions ; nervous system ; neuropathy ; nociceptors ; peripheral ; peripheral nervous system ; protein ; sodium ; sodium channel ; subunit ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: November 2012
Published: April 7, 2014