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


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