Cilia and flagella associated protein 126 (CFAP126)

Cilia and flagella associated protein 126 (CFAP126), also known as Flattop or C1orf192, is a microtubule-interacting protein localized at the cilia and their basal bodies in mono- and multiciliated cells[1][5]. It acts as a regulator of cilium basal body docking and positioning, which is crucial for the correct assembly and function of motile cilia and flagella[1][5]. CFAP126 is implicated in cilium organization and the regulation of flagellated sperm motility[5]. Functional loss or mutation of CFAP126 or its orthologs leads to defects in cilia formation and positioning, as shown in models where knockout results in impaired ciliary assembly and altered planar cell polarity[1]. Research has associated this family of proteins with the structural stability and mechanics needed for ciliary movement but there is currently no evidence to support that CFAP126 itself is a direct therapeutic target, nor does it interact with known drugs or have a defined mechanism of therapeutic action[1][5]. Diseases arising from CFAP126 dysfunction would likely fall under the category of ciliopathies, but no specific disorder or drug interaction is described in current scientific references[1][5].

Other names

Protein FlattopC1orf192FLTPFlattopFltpUPF0740 protein C1orf192