Cilia- and flagella-associated protein 52 (CFAP52)

Cilia- and flagella-associated protein 52 (CFAP52) is a member of the WD40-repeat protein family and plays a critical role in the structure and function of motile cilia and flagella, especially during sperm differentiation. It is widely expressed in eukaryotes and localizes to a subset of microtubular structures such as the sperm flagellar axoneme, manchette, centrosome, and basal body. CFAP52 acts as a scaffolding platform for assembly of multiprotein complexes involved in flagellar and head–tail coupling apparatus (HTCA) formation. Mutations in CFAP52 cause male infertility characterized by severe sperm head–tail and flagellar defects, and it is also implicated in other ciliopathy phenotypes like hydrocephalus and situs anomalies. The gene is primarily of interest as a genetic diagnostic marker for certain forms of hereditary male infertility[1][2][4]. There are no known therapeutic drugs directly targeting this protein, and it is not currently considered a general therapeutic target but rather a molecular component essential for ciliary and flagellar structure and function.

Other names

WDR16WD repeat domain 16WDRPUHFLJ37528WD repeat-containing protein 16WD40-repeat protein up-regulated in HCCWD40-repeat protein upregulated in HCCHTX10