To use all functions of this page, please activate cookies in your browser.
my.bionity.com
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
IL2RG
IL2RG (interleukin 2 receptor, gamma (severe combined immunodeficiency)) is a human gene that provides instructions for making a protein called the common gamma chain. This protein is located on the surface of immature blood-forming cells in bone marrow. It has one end outside the cell like an antenna and the other end inside to transmit signals to the cell's nucleus. The common gamma chain partners with other proteins to direct blood-forming cells to form lymphocytes (a type of white blood cell). The receptor also directs the growth and maturation of lymphocyte subtypes: T cells, B cells, and natural killer cells. These cells kill viruses, make antibodies, and help regulate the entire immune system. Additional recommended knowledgeThe IL2RG gene is located on the long (q) arm of the X chromosome at position 13.1, from base pair 70,110,279 to base pair 70,114,423. Related conditionsX-linked severe combined immunodeficiency is caused by mutations in the IL2RG gene. More than 200 different mutations in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). Most of these mutations involve changes in one or a few DNA building blocks (nucleotides) in the gene. These changes lead to the production of a nonfunctional version of the common gamma chain or no protein at all. Without the common gamma chain, important chemical signals are not relayed to the nucleus and lymphocytes cannot develop normally. A lack of functional mature lymphocytes disrupts the immune system's ability to protect the body from infection. References
Categories: Genes on chromosome X | Genes |
||||||||||||||||||||||||
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "IL2RG". A list of authors is available in Wikipedia. |