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Reviewed January 2009
What is the official name of the GNAS gene?
The official name of this gene is “GNAS complex locus.”
GNAS is the gene's official symbol. The GNAS 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 GNAS gene?
The GNAS gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). Each G protein is composed of three proteins called the alpha, beta, and gamma subunits.
In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. The protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of endocrine glands such as the thyroid, pituitary gland, ovaries and testes (gonads), and adrenal glands. Adenylate cyclase is also believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis). In this way, the enzyme helps prevent the body from producing bone tissue in the wrong place (ectopic bone).
How are changes in the GNAS gene related to health conditions?
Where is the GNAS gene located?
Cytogenetic Location: 20q13.3
Molecular Location on chromosome 20: base pairs 57,414,794 to 57,486,249
The GNAS gene is located on the long (q) arm of chromosome 20 at position 13.3.
More precisely, the GNAS gene is located from base pair 57,414,794 to base pair 57,486,249 on chromosome 20.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GNAS?
You and your healthcare professional may find the following resources about GNAS 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 GNAS 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 GNAS?
adrenal glands ; brachydactyly ; cell ; constitutive ; dysplasia ; ectopic ; enzyme ; gene ; guanine ; imprinting ; lesion ; locus ; maternal ; mosaicism ; mutation ; nucleotide ; osteogenesis ; pigmentation ; pituitary gland ; protein ; short stature ; signal transduction ; skin pigmentation ; stature ; subunit ; syndrome ; testes ; thyroid ; tissue ; transduction
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.