STAT1-gene

STAT1 is the acronym for "Signal Transducer And Activator Of Transcription 1" is a protein coding gene located on chromosome 2q32.2. The gene product of the same name, Signal Transducer and Activator of Transcription 1, mediates cellular responses to interferons (IFNs).

Diseases associated with STAT1 include immunodeficiency syndromes 31A and 31B/C. Immunodeficiency 31C is also listed under the diagnosis: Chronic mucocutaneous candidiasis, familial type 7 (see Chronic mucocutaneous candidiasis, familial below). An important paralog of this gene is STAT4.

1. Mork N et al (2015) Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. Genes Immun 16: 552-566
2. Uzel G et al (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immun 131: 1611-1623