CFAP53
Description
CFAP53 is a gene that encodes a protein involved in the structure and function of cilia, hair-like structures found on the surface of many cells. Cilia play critical roles in various cellular processes, including sensory perception, fluid movement, and cell signaling. Mutations in CFAP53 have been linked to a range of human diseases, particularly those affecting the respiratory, reproductive, and nervous systems.
Associated Diseases
- Primary Ciliary Dyskinesia (PCD)
- Sperm Flagellar Defects
- Bardet-Biedl Syndrome (BBS)
- Joubert Syndrome
- Orofaciodigital Syndrome Type I
- Nephronophthisis
Did you know?
Mutations in CFAP53 can lead to defects in the structure of the sperm flagellum, the tail-like structure that propels sperm cells. This can result in male infertility.
