Interferon Gamma Receptor 1 (IFNGR1) Human Recombinant Protein

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]

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.

Protein type: Membrane protein, integral; Receptor, cytokine

Chromosomal Location of Human Ortholog: 6q23.3

Cellular Component: integral to plasma membrane; endoplasmic reticulum; dendrite; postsynaptic density; integral to membrane; plasma membrane; vesicle

Molecular Function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity; protein binding; interferon-gamma receptor activity; cytokine binding

Biological Process: response to virus; cytokine and chemokine mediated signaling pathway; signal transduction

Disease: Helicobacter Pylori Infection, Susceptibility To; Immunodeficiency 27b; Immunodeficiency 27a; Mycobacterium Tuberculosis, Susceptibility To; Hepatitis B Virus, Susceptibility To