STAT1
MIM.600555 2q32.2-q32.3
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The multiprotein complex ISGF3 (MIM.147574) binds to a 15-bp element, designated the ISRE (interferon-stimulated response element), that is different from the GAS element.
Alpha-interferon stimulates transcription by converting the positive transcriptional regulator ISGF3 from a latent to an active form.
Four proteins of 48 (ISGF3G) (MIM.147574), 84, 91, and 113 kD (STAT2) make up the ISGF3 complex. The 91- and 84-kD components arise from 2 differently processed RNA products derived from 1 gene (STAT1).
Comparison of the sequences of the 113-kD and the 91/84-kD proteins revealed that they are encoded by closely related but distinct genes.
Pathology
germline mutations in
- disseminated BCG infection (MIM.209950)
- complete STAT1 deficiency
- HSV1-associated encephalitis
- disseminated BCG vaccine infection (MIM.209950)