CEP19
Description
The CEP19 gene provides instructions for making a protein that plays a vital role in the development and function of cilia. These hair-like structures project from the surface of many cells and perform essential functions like sensing, movement, and signal transduction. Mutations in CEP19 can disrupt ciliary function, leading to a range of developmental and health issues.
Associated Diseases
- Joubert syndrome
- Meckel-Gruber syndrome
- Orofaciodigital syndrome type I
- Sensenbrenner syndrome
- Hydrolethalus syndrome
- Bardet-Biedl syndrome
- Alstrom syndrome
Did you know?
CEP19 mutations are associated with a variety of ciliopathies, a group of disorders affecting cilia.
