Cilia- and flagella-associated protein 57 (CFAP57)

Cilia- and flagella-associated protein 57 (CFAP57) is a highly conserved structural protein located in the axonemes of motile cilia and flagella. The protein is essential for the correct assembly and function of a subset of inner dynein arms, which are critical for generating and regulating the beating of cilia and flagella in human airway epithelial cells and spermatozoa. Mutations in CFAP57 disrupt assembling of these inner dynein arms, leading to reduced ciliary beat frequency, abnormal ciliary waveform, and impaired sperm flagellar motility. Clinically, loss-of-function mutations in CFAP57 cause primary ciliary dyskinesia (characterized by chronic airway disease and sometimes laterality defects) and are a genetic cause of male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF). There are multiple transcript variants, with evidence that different isoforms may function distinctly in cilia and flagella. No drug interactions or direct therapeutic targeting of CFAP57 have been reported to date.

Other names

WDR65FLJ32000WD repeat-containing protein 65SPGF95VWS2FAP57BOP2IDA8