KIR2DL4

KIR2DL4 is a gene that provides instructions for making a protein that plays a crucial role in the immune system. The KIR2DL4 gene is part of a family of genes called the killer cell immunoglobulin-like receptors (KIR) family.

Function

The KIR2DL4 gene encodes a transmembrane glycoprotein that functions as a receptor on natural killer (NK) cells, which are a type of white blood cell. These cells play a critical role in the body's defense against infection and cancer. The KIR2DL4 protein is involved in the regulation of NK cell activation and proliferation.

Clinical significance

Mutations in the KIR2DL4 gene have been associated with several health conditions, including certain types of autoimmune diseases and cancer. For example, some studies have suggested a link between variations in this gene and susceptibility to rheumatoid arthritis and systemic lupus erythematosus (SLE). However, more research is needed to confirm these findings and understand the precise role of KIR2DL4 in these diseases.

See also

• Killer cell immunoglobulin-like receptors
• Natural killer cell
• Autoimmune disease
• Cancer