BTK gene

The BTK gene provides instructions for making a protein called Bruton's tyrosine kinase, which is essential for developing and functioning certain immune cells known as B cells. These cells produce antibodies that help protect the body from infections. If the BTK gene has mutations or defects, it can lead to a disorder called X-linked agammaglobulinemia (XLA), where B cell development is impaired, resulting in a weakened immune system and increased vulnerability to infections. Understanding the BTK gene helps in diagnosing and developing treatments for immune system disorders related to B cell deficiencies.