Interferon gamma receptor 2
An Error has occurred retrieving Wikidata item for infobox Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[1]
Function
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains (encoded by IFNGR1) and two IFN-γR2 chains.[2]
Clinical significance
Defects in IFNGR2 are a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection.[3] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database.[4]
References
- ↑ Luster AD, Weinshank RL, Feinman R, Ravetch JV (August 1988). "Molecular and biochemical characterization of a novel gamma-interferon-inducible protein". J. Biol. Chem. 263 (24): 12036–43. doi:10.1016/S0021-9258(18)37889-X. PMID 3136170.[permanent dead link]
- ↑ "Entrez Gene: IFNGR2".
- ↑ Al-Muhsen S, Casanova JL (December 2008). "The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases". J. Allergy Clin. Immunol. 122 (6): 1043–51, quiz 1052–3. doi:10.1016/j.jaci.2008.10.037. PMID 19084105.
- ↑ "All genes - Global Variome shared LOVD".
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
