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Rabbit Anti-phospho-IFNGR1 (Tyr457)/FITC Conjugated antibody
background:
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].
Function:
Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.
Subunit:
Monomer.
Subcellular Location:
Membrane; Single-pass type I membrane protein.
Post-translational modifications:
Phosphorylated at Ser/Thr residues.
DISEASE:
Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the type II cytokine receptor family.
Contains 2 fibronectin type-III domains.
Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Database links:
Entrez Gene: 3459 Human
Entrez Gene: 15979 Mouse
Omim: 107470 Human
SwissProt: P15260 Human
SwissProt: P15261 Mouse
Unigene: 520414 Human
Unigene: 549 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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