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SC gene family

Reviewed December 2011

What are the SC genes?

Genes in this family provide instructions for making sodium channels. These channels transport positively charged sodium atoms (sodium ions) into cells. Sodium channels play key roles in a cell's ability to generate and transmit electrical signals.

Sodium channels are made up of several protein components (subunits), each of which is produced from a particular gene. The α (alpha) subunit is the largest and most important component of each sodium channel. It forms the hole (pore) through which sodium ions can flow. The α subunit interacts with one or more smaller β (beta) subunits, which help regulate the channel's function and interact with various other proteins inside and outside the cell.

Sodium channels have critical functions in several different tissues. For example, these channels are abundant in heart (cardiac) muscle, where they play a major role in maintaining a normal heart rhythm. Sodium channels are also found in muscles used for movement (skeletal muscles), where they help control muscle tensing (contraction) and relaxation. Additionally, sodium channels are essential for the normal function of the nervous system. These channels help transmit electrical signals within and between nerve cells in the brain and throughout the body.

Mutations in genes in the sodium channel family cause disorders affecting the heart, skeletal muscles, and nervous system. In the heart, abnormal sodium channel function causes several diseases characterized by abnormal heart rhythms (arrhythmias). Changes in sodium channels in skeletal muscle cells are responsible for disorders that cause muscle weakness and episodes of paralysis. Altered sodium channel function in the nervous system can lead to several types of childhood epilepsy, a rare familial form of migraines, and pain disorders.

Several medications work by targeting sodium channels. These medications include certain drugs used to block the sensation of pain (anesthetics), anti-seizure drugs, and drugs used to treat abnormal heartbeats (antiarrhythmics).

Which genes are included in the SC gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the SC familyThis link leads to a site outside Genetics Home Reference..

Genetics Home Reference summarizes the normal function and health implications of these members of the SC gene family: SCN1A, SCN4A, SCN5A, SCN9A, SCN10A, SCNN1A, SCNN1B, and SCNN1G.

What conditions are related to genes in the SC gene family?

Where can I find additional information about the SC gene family?

You may find the following resources about the SC gene family helpful.

Where can I find general information about genes and gene families?

The Handbook provides basic information about genetics in clear language.

What glossary definitions help with understanding the SC gene family?

action potential ; anesthetics ; cardiac ; cell ; channel ; contraction ; epilepsy ; familial ; gene ; ions ; muscle cells ; Na ; nervous system ; protein ; seizure ; skeletal muscle ; 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 (4 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: December 2011
Published: October 20, 2014