DefinitionThis section has been translated automatically.
The IFNGR2 gene (Interferon Gamma Receptor 2) is a protein coding gene located at chromosome 21q22.11. The IFNGR2 gene encodes the non-ligand binding beta chain of the gamma interferon receptor. The human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2.
Defects in IFNGR2 are a cause of increased susceptibility to mycobacterial diseases - MSMD , also known as Mendelian susceptibility to mycobacterial diseases/ MSMD/OMIM: 614889. MSMD due to mutation in IFNGR2 gene is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance (Immunodeficiency 28).
Associated pathways include the immune response IFN gamma pathway and the interferon gamma pathway.
