ADA
Description
The ADA gene provides instructions for making adenosine deaminase, an enzyme essential for the immune system. This enzyme helps break down adenosine, a molecule that builds up in cells, preventing the proper development and function of immune cells. ADA deficiency, a rare genetic disorder, arises when mutations in this gene lead to a lack of functional ADA, severely impairing the immune system.
Associated Diseases
Did you know?
ADA deficiency was the first genetic disorder successfully treated by gene therapy.
