IFNGR1 Receptor for interferon gamma. Two receptors bind one interferon gamma dimer. Defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Belongs to the type II cytokine receptor family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: 6q23.3
Cellular Component:  integral component of plasma membrane; plasma membrane
Molecular Function:  cytokine binding; interferon-gamma receptor activity; protein binding
Biological Process:  interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; response to virus; signal transduction
Disease: Helicobacter Pylori Infection, Susceptibility To; Hepatitis B Virus, Susceptibility To; Immunodeficiency 27a; Immunodeficiency 27b; Mycobacterium Tuberculosis, Susceptibility To
Reference #:  P15260 (UniProtKB)
Alt. Names/Synonyms: antiviral protein, type 2; AVP, type 2; CD119; CD119 antigen; CDw119; FLJ45734; IFN-gamma receptor 1; IFN-gamma-R1; IFNGR; IFNGR1; immune interferon receptor 1; INGR1; Interferon gamma receptor 1; interferon-gamma receptor alpha chain
Gene Symbols: IFNGR1
Molecular weight: 54,405 Da
Basal Isoelectric point: 4.83  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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