UNC93B1

Ideogram human chromosome 11

UNC93B1

UNC93B1 is a protein that in humans is encoded by the UNC93B1 gene. This gene is located on chromosome 11 in humans. UNC93B1 is a transmembrane protein that plays a crucial role in the immune system by regulating the trafficking of nucleic acid-sensing Toll-like receptors (TLRs) from the endoplasmic reticulum to endolysosomes.

Function

UNC93B1 is essential for the proper functioning of the immune system. It acts as a chaperone for TLRs, ensuring their correct localization within the cell. TLRs are important components of the innate immune system, recognizing various pathogens and initiating immune responses. UNC93B1 specifically interacts with TLR3, TLR7, TLR8, and TLR9, facilitating their transport to endolysosomes where they can detect nucleic acids from viruses and bacteria.

Clinical Significance

Mutations in the UNC93B1 gene have been associated with autoimmune diseases and susceptibility to infections. Defects in UNC93B1 can lead to dysregulation of TLR signaling pathways, resulting in impaired immune responses and increased susceptibility to infections. Studies have shown that UNC93B1 deficiency can cause autoimmune diseases such as systemic lupus erythematosus and herpes simplex encephalitis.

Interactions

UNC93B1 interacts with various TLRs, including TLR3, TLR7, TLR8, and TLR9. These interactions are crucial for the proper trafficking and function of TLRs in the immune response. Additionally, UNC93B1 has been shown to interact with other proteins involved in immune signaling pathways, further highlighting its importance in immune regulation.