KIR2DL1

KIR2DL1 is a gene that provides instructions for making a protein that plays a crucial role in the immune system. The KIR2DL1 gene is part of a family of KIR genes, which stand for "Killer cell Immunoglobulin-like Receptors". These genes are found on the surface of natural killer cells, which are a type of white blood cell that can kill certain types of cells in the body.

Function

The KIR2DL1 protein is a receptor that binds to certain types of HLA class I molecules, which are proteins found on the surface of almost all cells. This binding can inhibit the activity of natural killer cells, preventing them from killing the cell. This is an important mechanism that the immune system uses to distinguish between the body's own cells and foreign cells.

Clinical significance

Mutations in the KIR2DL1 gene have been associated with a number of diseases. For example, certain variants of the gene have been linked to an increased risk of autoimmune diseases, such as rheumatoid arthritis and type 1 diabetes. Other variants have been associated with a decreased risk of certain types of cancer, including breast cancer and melanoma.

Research

Research is ongoing to better understand the role of the KIR2DL1 gene and its protein in the immune system. This could lead to new treatments for diseases that are caused by an overactive or underactive immune system.

See also

• KIR genes
• Natural killer cell
• HLA class I