CFAP52

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Description

CFAP52 is a gene that encodes a protein crucial for the proper function of cilia, microscopic hair-like structures found on the surface of many cells. Cilia play vital roles in various cellular processes, including sensory perception, fluid movement, and cell signaling. Mutations in the CFAP52 gene can disrupt ciliary function, leading to a range of human diseases.

Associated Diseases

• Joubert syndrome
• Meckel-Gruber syndrome
• Orofaciodigital syndrome type 1
• Sensenbrenner syndrome
• Nephronophthisis
• Bardet-Biedl syndrome
• Primary ciliary dyskinesia

Did you know?

CFAP52 mutations are associated with a wide spectrum of clinical phenotypes, highlighting the importance of cilia in human health.