Interferon gamma receptor 1

Interferon gamma receptor 1 (IFNγR1) is a type of protein that in humans is encoded by the IFNGR1 gene. It is a part of the interferon receptor family, specifically for interferon gamma (IFNγ).

Structure[edit | edit source]

IFNγR1 is a transmembrane protein that is composed of an extracellular domain, a transmembrane domain, and an intracellular domain. The extracellular domain is responsible for binding to IFNγ, while the intracellular domain is involved in signal transduction.

Function[edit | edit source]

IFNγR1 is a critical component of the immune response. It is the receptor for IFNγ, a cytokine that plays a key role in the immune response to infections and cancer. When IFNγ binds to IFNγR1, it triggers a cascade of intracellular events that lead to the activation of immune cells and the production of molecules that help fight off infections and tumors.

Clinical significance[edit | edit source]

Mutations in the IFNGR1 gene can lead to a condition known as Mendelian susceptibility to mycobacterial disease (MSMD). This is a rare genetic disorder that makes individuals more susceptible to certain types of infections, particularly those caused by mycobacteria and some viruses.