DNAH14
DNAH14: A Vital Ciliary Gene and Its Role in Health and Disease
Description
DNAH14 is a gene that encodes a protein called dynein heavy chain 14. Dynein is a motor protein that plays a crucial role in the function of cilia, tiny hair-like structures that protrude from the surface of cells. Cilia are essential for a variety of functions, including cell movement, mucus transport, and sensory perception.
Associated Diseases
Mutations in the DNAH14 gene have been linked to several diseases that affect cilia, collectively known as ciliopathies. These diseases include:
- Primary ciliary dyskinesia (PCD): A genetic disorder that affects the structure and function of cilia in the respiratory tract, leading to recurrent respiratory infections and other problems.
- Hydrocephalus: A condition characterized by an excessive accumulation of fluid in the brain.
- Kartagener's syndrome: A rare genetic disorder that affects both the respiratory tract and the male reproductive system.
- Bardet-Biedl syndrome: A condition that affects multiple organ systems, including the eyes, kidneys, and limbs.
Did you Know ?
PCD is estimated to affect approximately 1 in 15,000 people worldwide. However, the actual prevalence may be higher, as many cases go undiagnosed.
