UNC93B1

Description

UNC93B1 is a transmembrane protein that plays a crucial role in the innate immune response by regulating the trafficking and activation of Toll-like receptors (TLRs). TLRs are pattern recognition receptors that detect pathogen-associated molecular patterns (PAMPs) and trigger downstream signaling pathways, leading to the production of cytokines and the activation of immune cells. UNC93B1 is essential for the proper function of TLR3, TLR7, TLR8, and TLR9, which recognize viral nucleic acids and other microbial components. Mutations in UNC93B1 can lead to impaired TLR signaling and increased susceptibility to infections.

Associated Diseases

• Hereditary immunodeficiency with susceptibility to mycobacteria (HSM)
• Chronic mucocutaneous candidiasis (CMC)
• Severe combined immunodeficiency (SCID)

Did you know?

UNC93B1 gene was initially identified in a study of Caenorhabditis elegans, a nematode worm, and its function in innate immunity was later discovered in mammals.