形式 |
This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E.
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復(fù)溶 |
Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility hot-spot. Johnatty SE, et al. PLoS Genet, 2010 Jul 8. PMID 20628624.Dengue hemorrhagic fever is associated with polymorphisms in JAK1. Silva LK, et al. Eur J Hum Genet, 2010 Jun 30. PMID 20588308.Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. Schuurhof A, et al. Pediatr Pulmonol, 2010 Jun. PMID 20503287.Structural and thermodynamic characterization of the TYK2 and JAK3 kinase domains in complex with CP-690550 and CMP-6. Chrencik JE, et al. J Mol Biol, 2010 Jul 16. PMID 20478313.Polymorphisms in innate immunity genes and risk of childhood leukemia. Han S, et al. Hum Immunol, 2010 Jul. PMID 20438785.
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