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

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

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

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.

See also

• Interferon gamma receptor 2
• Interferon gamma

External links

• GeneCards - IFNGR1