STAT1
STAT1 (Signal Transducer and Activator of Transcription 1) is a protein that in humans is encoded by the STAT1 gene. It is a member of the STAT protein family and plays a crucial role in upregulating genes in response to cellular stimulation by interferon-gamma and other cytokines.
Function
STAT1 is involved in upregulating genes due to a signal by interferon-gamma. Interferon-gamma binds to its receptor, which triggers a signaling cascade that leads to the activation of STAT1. Once activated, STAT1 can move into the nucleus of the cell and bind to DNA, which stimulates the transcription of genes.
Clinical significance
Mutations in the STAT1 gene can lead to immunodeficiency with increased susceptibility to certain pathogens, such as mycobacteria. This condition is known as Mendelian susceptibility to mycobacterial disease (MSMD). Additionally, STAT1 is involved in the development and function of the immune system and plays a role in the development of cancer.
Interactions
STAT1 has been shown to interact with a variety of proteins, including IRF1, STAT2, NMI and others.
See also
References
External links
- STAT1 at the US National Library of Medicine Medical Subject Headings (MeSH)
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