Explore how different genetic mutations affect ciliary structure and function in Primary Ciliary Dyskinesia
Choose a gene to see how mutations affect ciliary structure:
Approximately 30% of PCD cases have no identified genetic cause
DNAH5 encodes a dynein heavy chain protein that is a component of the outer dynein arms of cilia. The protein is essential for ciliary beating and mutations in this gene are the most common cause of PCD, accounting for approximately 25% of cases.
In the normal structure, the outer dynein arms are properly formed and attached to the microtubules, allowing for normal ciliary beating patterns and mucociliary clearance.