Interferon gamma receptor 2 also known as IFN-γR2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
which in humans is encoded by the ''IFNGR2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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.
Clinical significance
Defects in ''IFNGR2'' are a cause of
autosomal recessive
In genetics, dominance is the phenomenon of one variant ( allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant an ...
mendelian susceptibility to
mycobacterial
''Mycobacterium'' is a genus of over 190 species in the phylum Actinomycetota, assigned its own family, Mycobacteriaceae. This genus includes pathogens known to cause serious diseases in mammals, including tuberculosis ('' M. tuberculosis'') a ...
disease (MSMD), also known as familial disseminated atypical mycobacterial infection.
All known mutations in ''IFNGR2'' are collected in the ''IFNGR2'' mutation database.
References
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