Interferon gamma receptor 2
| interferon gamma receptor 2 (interferon gamma transducer 1) | |
|---|---|
| Identifiers | |
| Symbol | IFNGR2 |
| Alt. symbols | IFNGT1 |
| Entrez | 3460 |
| HUGO | 5440 |
| OMIM | 147569 |
| RefSeq | NM_005534 |
| UniProt | P38484 |
| Other data | |
| Locus | Chr. 21 q22.1 |
Interferon gamma receptor 2 also known as IFNGR2 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 heterodimer of IFNGR1 and IFNGR2.[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]
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. PMID 3136170.
- ↑ "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. PMID 19084105. doi:10.1016/j.jaci.2008.10.037.
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