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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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least a dozen mutations in the SCNN1A gene cause pseudohypoaldosteronism type 1 (PHA1). This condition typically begins in infancy and is characterized by low levels of sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood and severe dehydration. In particular, SCNN1A gene mutations are involved in autosomal recessive PHA1, a severe form of the condition that does not improve with age.
Most mutations in the SCNN1A gene result in a shortened alpha subunit protein of the ENaC channel. Other mutations delete a small piece of DNA or change a single protein building block (amino acid) in the alpha subunit protein. SCNN1A gene mutations lead to reduced or absent ENaC channel activity. As a result, sodium reabsorption is impaired, leading to hyponatremia and other signs and symptoms of autosomal recessive PHA1. The reduced function of ENaC channels in lung epithelial cells leads to excess fluid in the lungs and recurrent lung infections.
Some people with cystic fibrosis-like syndrome have a mutation or a normal gene variation (polymorphism) in the SCNN1A gene. People with cystic fibrosis-like syndrome (also known as atypical cystic fibrosis or bronchiectasis with or without elevated sweat chloride type 2) have signs and symptoms that resemble those of cystic fibrosis, including breathing problems and lung infections. However, changes in the gene most commonly associated with cystic fibrosis, CFTR, cannot explain development of the condition. It is thought that a mutation or gene variation in the SCNN1A gene can disrupt sodium transport and fluid balance, which leads to the signs and symptoms of cystic fibrosis-like syndrome.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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 (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.