IL2RG : interleukin 2 receptor subunit gamma
The IL2RG Gene and Its Vital Role in the Immune System
Description
The IL2RG gene is responsible for instructing the body to produce a crucial protein known as the common gamma chain. This protein forms an integral part of several receptors on immune cells, enabling them to receive signals from outside the cell and initiate appropriate immune responses.
Mechanism of Action
Receptors containing the common gamma chain span the cell membrane, acting as "antennas" to detect external stimuli. When these receptors bind to specific proteins, similar to a key fitting into a lock, a cascade of chemical reactions is triggered within the cell. This signaling pathway plays a central role in regulating immune cell activity.
Associated Diseases
Mutations in the IL2RG gene have been linked to several immune disorders, including:
- Severe combined immunodeficiency (SCID): A rare genetic disorder characterized by a severe deficiency of T cells, B cells, and natural killer cells.
- X-linked severe combined immunodeficiency (XSCID): A specific form of SCID caused by mutations on the X chromosome.
- Omenn syndrome: A rare condition that affects the development and function of T cells and natural killer cells.
- Autoimmune lymphoproliferative syndrome (ALPS): A disorder that causes the immune system to attack itself, leading to various autoimmune diseases.
Did you Know ?
Approximately 1 in 50,000 newborns worldwide is affected by severe combined immunodeficiency (SCID), highlighting the critical role of the IL2RG gene in immune function.
