Cilia and flagella-associated protein 47 (CFAP47)

Cilia and flagella-associated protein 47 (CFAP47) is a large, multi-exon, intracellular structural protein predominantly expressed in tissues with motile cilia or flagella, including testis, thyroid, liver, brain, and endometrium. It contains a calponin homology domain associated with actin-binding and cytoskeletal function. CFAP47 plays a key role in the formation and proper motility of sperm flagella and is essential for spermatogenesis. Mutations in CFAP47 have been causally linked to male infertility due to multiple sperm flagellar abnormalities, as well as to primary ciliary dyskinesia, which can cause respiratory symptoms due to ciliary dysfunction in airway epithelial cells. Mechanistically, CFAP47 interacts with other proteins involved in ciliary and flagellar assembly, such as CFAP65, CFAP69, and SEPTIN4, thereby regulating the morphogenesis of sperm head, flagella, and annulus. There are no known drugs targeting CFAP47, and it is not currently a therapeutic target.

Other names

CFAP47CXorf59CHDC2CXorf22CXorf30FLJ36601RP13-11B7.1MGC34831SPGF52SPGFX3Calponin homology domain-containing protein 2

Not applicable, as no known drugs target this molecule