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Reviewed March 2013
What is the official name of the SCNN1B gene?
The official name of this gene is “sodium channel, non-voltage-gated 1, beta subunit.”
SCNN1B is the gene's official symbol. The SCNN1B 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 SCNN1B gene?
The SCNN1B gene provides instructions for making one piece, the beta 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, colon, and sweat glands. The ENaC channel transports sodium into cells.
In the kidney, ENaC channels open in response to signals that sodium levels in the blood are too low, which allows sodium to flow into cells. From the kidney cells, this sodium is returned to the bloodstream (a process called reabsorption) rather than being removed from the body in urine. 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 SCNN1B gene share characteristics with other genes?
The SCNN1B 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 SCNN1B gene related to health conditions?
Where is the SCNN1B gene located?
Cytogenetic Location: 16p12.2-p12.1
Molecular Location on chromosome 16: base pairs 23,302,269 to 23,381,298
The SCNN1B gene is located on the short (p) arm of chromosome 16 between positions 12.2 and 12.1.
More precisely, the SCNN1B gene is located from base pair 23,302,269 to base pair 23,381,298 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SCNN1B?
You and your healthcare professional may find the following resources about SCNN1B 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 SCNN1B 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 SCNN1B?
amino acid ; atypical ; autosomal ; autosomal recessive ; bronchiectasis ; cell ; channel ; chloride ; colon ; dehydration ; epithelial ; fibrosis ; gene ; hyperkalemia ; hypertension ; hypokalemia ; 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 (16 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.