CFAP126
Description
The CFAP126 (cilia and flagella associated protein 126) is a protein-coding gene located on chromosome 1.
CFAP126 is a Microtubule Inner Protein (MIP) that is part of the dynein-decorated doublet microtubules (DMTs) in cilia axonemes. It acts as a regulator of cilium basal body docking and positioning in both mono- and multiciliated cells. Specifically, it regulates basal body docking and cilia formation in multiciliated lung cells. Furthermore, CFAP126 plays a role in the inner ear by regulating kinocilium positioning and stereocilia bundle morphogenesis.
CFAP126 is also known as C1orf192, Flattop, Fltp.
Associated Diseases
- hereditary pheochromocytoma-paraganglioma
- type 2 diabetes mellitus
- fleck corneal dystrophy
- BK-virus nephropathy
