BTD

Description

The BTD gene, also known as BTK/ITK tyrosine kinase, plays a crucial role in the development and function of blood vessels. It encodes a protein that acts as a signal transducer, relaying messages from the cell surface to the inside, which are essential for vascular cell growth, differentiation, and migration. Mutations in this gene can lead to a range of vascular abnormalities, highlighting its importance in maintaining healthy blood vessels.

Associated Diseases

• X-linked agammaglobulinemia (XLA)
• Hyper IgM syndrome
• Immunodeficiency with hyper-IgM
• Chronic granulomatous disease
• Leukemia
• Lymphoma

Did you know?

The BTD gene is highly expressed in immune cells, particularly B cells, and is essential for their development and function. This explains why mutations in the BTD gene often lead to immune deficiencies.