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Reviewed December 2011
What is the official name of the SCNN1A gene?
The official name of this gene is “sodium channel, non voltage gated 1 alpha subunit.”
SCNN1A is the gene's official symbol. The SCNN1A 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 SCNN1A gene?
The SCNN1A gene provides instructions for making one piece, the alpha subunit, of a protein complex called the epithelial sodium channel (ENaC). The channel is composed of alpha, beta, and gamma subunits, each of which is produced from a different gene. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells.
In the kidney, ENaC channels take sodium into cells in response to signals that sodium levels in the body are too low. From the kidney cells, this sodium is returned to the bloodstream rather than being removed from the body (a process called reabsorption). In addition to regulating the amount of sodium in the body, the flow of sodium ions helps control the movement of water in tissues. For example, ENaC channels in lung cells help regulate the amount of fluid in the lungs.
Does the SCNN1A gene share characteristics with other genes?
The SCNN1A gene belongs to a family of genes called SC (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 SCNN1A gene related to health conditions?
Where is the SCNN1A gene located?
Cytogenetic Location: 12p13
Molecular Location on chromosome 12: base pairs 6,346,842 to 6,377,356
The SCNN1A gene is located on the short (p) arm of chromosome 12 at position 13.
More precisely, the SCNN1A gene is located from base pair 6,346,842 to base pair 6,377,356 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SCNN1A?
You and your healthcare professional may find the following resources about SCNN1A 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 SCNN1A gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 SCNN1A?
amino acid ; atypical ; autosomal ; autosomal recessive ; bronchiectasis ; channel ; chloride ; dehydration ; DNA ; epithelial ; fibrosis ; gene ; hyperkalemia ; hyponatremia ; ions ; kidney ; mutation ; Na ; polymorphism ; potassium ; protein ; recessive ; sodium ; sodium channel ; subunit ; syndrome ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.