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human STING gene, V155M isoform
SAVI-associated V155M hSTING gene
STING (stimulator of interferon genes; also known as TMEM173, MITA, MPYS, and ERIS) is essential for the interferon (IFN) response to microbial or self DNA, and acts as a direct sensor of cyclic dinucleotides (CDNs).
Several variants of STING have been described in the human population. The M155 (V155M) variant results in a gain-of- function mutation with the constitutive activation of STING and an upregulation of IFN production .
This mutation is associated with a chronic autoinflammatory disease, known as STING- associated vasculopathy with onset in infancy (SAVI) .
1. Jeremiah N. et al., 2013. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 124(12):5516-20.
2. Liu Y. et al., 2014. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 371(6):507-18.
Human STING-M155 (pUNO1-hSTING-M155)
ORF size : 1140 bp
Subclone : BspEI - NheI