Stimulator of interferon response cGAMP interactor 1: The STING1 gene provides instructions for making a protein that is involved in immune system 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.
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.
endoplasmic reticulum IFN stimulator
endoplasmic reticulum interferon stimulator
ERIS
FLJ38577
hMITA
hSTING
mediator of IRF3 activation
MITA
mitochondrial mediator of IRF3 activation
MPYS
N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner
NET23
SAVI
stimulator of interferon genes protein
STING
TMEM173
transmembrane protein 173
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/sting1