CFAP44

Description

CFAP44, or Cilia- and Flagella-Associated Protein 44, is a gene encoding a protein critical for the proper assembly and function of cilia, the hair-like structures found on the surface of many cells. These cilia play diverse roles in cell signaling, fluid movement, and sensory perception. Mutations in CFAP44 can disrupt cilia formation and lead to various developmental and physiological disorders.

Associated Diseases

• Primary Ciliary Dyskinesia (PCD): A genetic disorder affecting cilia motility, causing respiratory infections and infertility.
• Situs Inversus: A condition where internal organs are reversed in the body, potentially linked to cilia dysfunction.
• Bardet-Biedl Syndrome (BBS): A rare genetic disorder characterized by obesity, retinal degeneration, and polydactyly.
• Joubert Syndrome: A neurodevelopmental disorder characterized by brain malformations and motor impairments.

Did you know?

CFAP44 is found in a region of the genome known as the 'ciliopathy locus,' which harbors multiple genes involved in cilia function.