CFAP43

Description

The CFAP43 gene encodes a protein crucial for the assembly and function of cilia, hair-like structures found on the surface of many cells. These cilia play essential roles in various bodily processes, including sensory perception, fluid movement, and cell signaling. Mutations in the CFAP43 gene can disrupt ciliary function, leading to a range of human diseases.

Associated Diseases

• Primary ciliary dyskinesia (PCD)
• Sperm immotility
• Bardet-Biedl syndrome
• Joubert syndrome

Did you know?

Mutations in the CFAP43 gene can lead to a condition called situs inversus, where the organs are reversed in the body.