CFAP69
Description
CFAP69 is a gene encoding a protein that plays a crucial role in the structure and function of cilia, hair-like organelles found on the surface of many cells. These cilia are essential for various cellular processes, including sensory perception, fluid transport, and cell signaling. Mutations in CFAP69 can disrupt cilia function, leading to a spectrum of human diseases.
Associated Diseases
Did you know?
Mutations in CFAP69 can lead to situs inversus, a rare condition where the internal organs are mirrored, such as the heart being on the right side instead of the left.
