DNAH12
Description of DNAH12
DNAH12, also known as dynein axonemal heavy chain 12, is a protein that plays a crucial role in the structure and function of cilia and flagella. These hair-like structures are vital for cellular movement, sensory perception, and developmental processes.
Associated Diseases
Mutations in the DNAH12 gene have been linked to several inherited disorders, primarily affecting the function of cilia and flagella. These disorders collectively fall under the umbrella of primary ciliary dyskinesia (PCD). PCD is characterized by chronic respiratory and ear infections, as well as infertility in males.
Did you Know ?
PCD affects approximately 1 in 10,000 newborns worldwide. It is a rare disorder, but its impact can be significant, affecting not only the health of individuals but also their quality of life.