Interferon gama receptor 2

Interferon gama receptor 2 (interferon gamma transducer 1)
Interferon gama receptor 2 (interferon gamma transducer 1)
Identifikatori
Simbol	IFNGR2
Alt. simboli	IFNGT1
Entrez	3460
HUGO	5440
OMIM	147569
RefSeq	NM_005534
UniProt	P38484
Ostali podaci
Lokus	Hromozom 21 q22.1

Interferon gama receptor 2, takođe poznat kao IFNGR2, je protein koji je kod ljudi kodiran genom IFNGR2.^[1]

Funkcija

Ovaj gen (IFNGR2) kodira beta lanac gama interferon receptora koji ne vezuje ligand. Ljudski interferon-gama receptor je heterodimer IFNGR1 i IFNGR2.^[2]

Klinički značaj

Defekti u IFNGR2 are uzrok autozomno recesivne mendelovske podložnosti mikobakterijskim bolestima (MSMD), takođe poznatim kao familijarno diseminovana atipična mikobakterijska infekcija.^[3]

Literatura

^ Luster AD, Weinshank RL, Feinman R, Ravetch JV (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 (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.

[pmid3136170-1] Luster AD, Weinshank RL, Feinman R, Ravetch JV (1988). „Molecular and biochemical characterization of a novel gamma-interferon-inducible protein”. J. Biol. Chem. 263 (24): 12036—43. PMID 3136170.

[entrez-2] „Entrez Gene: IFNGR2”.

[pmid19084105-3] Al-Muhsen S, Casanova JL (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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