IFNGR1 encodes interferon gamma receptor 1 (489 aa). Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation. Highest expression in Lung (268.2 TPM) and Spleen (207.8 TPM).

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency is associated with mutations in the IFNGR1 gene on chromosome 6.

The IFNGR1 protein participates in Binding of STAT1 to p-IFNGR1 pathway.

IFNGR1 is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 39.2.

Genetic testing for IFNGR1 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).