CFAP91
Description
The CFAP91 gene, located on chromosome 17, encodes a protein essential for the assembly and function of cilia, hair-like structures found on the surface of many cells. These cilia play critical roles in sensory perception, fluid movement, and cell signaling. Mutations in the CFAP91 gene can disrupt cilia function, leading to a range of developmental and health problems. This article explores the complexities of CFAP91, its association with diseases, and the ongoing research efforts to understand its role in human health.
Associated Diseases
- Primary Ciliary Dyskinesia (PCD): A genetic disorder characterized by impaired cilia function, leading to respiratory problems, infertility, and other complications.
- Situs Inversus: A rare condition where the internal organs are reversed in position, often associated with PCD.
- Hydrocephalus: A condition where excess fluid accumulates in the brain, potentially caused by dysfunctional cilia in the brain's ventricles.
- Polycystic Kidney Disease (PKD): A genetic disorder characterized by the formation of cysts in the kidneys, where cilia play a role in kidney development and fluid regulation.
- Bardet-Biedl Syndrome (BBS): A rare genetic disorder affecting multiple organ systems, including the eyes, kidneys, and brain, with cilia dysfunction implicated in its pathogenesis.
Did you know?
CFAP91 is one of over 200 genes implicated in primary ciliary dyskinesia, highlighting the complexity of cilia function and its importance for human health.
