Stimulator of interferon response cGAMP interactor 1: The STING1 gene provides instructions for making a protein that is involved in immune system function.
1. Normal Function
The STING1 gene provides instructions for making a protein that is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair.
2. Health Conditions Related to Genetic Changes
2.1. STING-associated vasculopathy with onset in infancy
At least three STING1 gene mutations have been identified in individuals with STING-associated vasculopathy with onset in infancy (SAVI), a potentially life-threatening disorder that damages the skin, lungs, blood vessels, and other tissues. The mutations that cause SAVI are described as "gain-of-function" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation, resulting in damage to the body's own cells and tissues and leading to the signs and symptoms of SAVI. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases.
3. Other Names for This Gene
endoplasmic reticulum IFN stimulator
endoplasmic reticulum interferon stimulator
mediator of IRF3 activation
mitochondrial mediator of IRF3 activation
N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner
stimulator of interferon genes protein
transmembrane protein 173
The entry is from https://medlineplus.gov/genetics/gene/sting1
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