KIR2DS4

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KIR2DS4: A Gene Linked to Immune Function and Disease

Description

KIR2DS4 (Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4) is a gene located on chromosome 19q13.4 in humans. It encodes a protein that is expressed on the surface of natural killer (NK) cells, a type of immune cell that plays a crucial role in the body's innate immune response. KIR2DS4 belongs to a group of genes known as KIR genes, which encode receptors that recognize specific human leukocyte antigen (HLA) molecules expressed on the surface of other cells.

Associated Diseases

KIR2DS4 has been associated with a number of diseases and conditions, including:

• HIV infection: KIR2DS4 has been found to be associated with an increased risk of HIV infection. Individuals with certain KIR2DS4 alleles may have impaired NK cell function, which could make them more susceptible to the virus.
• Hepatitis C virus (HCV) infection: KIR2DS4 has also been linked to HCV infection. Studies have shown that individuals with specific KIR2DS4 alleles have a higher risk of developing chronic HCV infection and experiencing liver damage.
• Autoimmune diseases: KIR2DS4 has been implicated in the development of autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, and type 1 diabetes. It is believed that KIR2DS4 may contribute to the excessive immune response seen in these conditions.
• Cancer: KIR2DS4 has been linked to certain types of cancer, including leukemia and lymphoma. NK cells play a role in eliminating cancer cells, and alterations in KIR2DS4 expression or function may affect the ability of NK cells to recognize and kill cancer cells.

Did you Know ?

A significant number of individuals worldwide carry different KIR2DS4 alleles. The frequency of KIR2DS4 alleles varies among different ethnic groups, with the highest frequencies observed in African populations. This genetic diversity suggests that KIR2DS4 plays an important role in human immune function and may contribute to variations in susceptibility to different diseases.