Cilia- and flagella-associated protein 43 (CFAP43)

Cilia- and flagella-associated protein 43 (CFAP43) is a cytoplasmic structural protein essential for the assembly and organization of the axoneme—the core microtubule structure—of motile cilia and flagella[1][7]. It is highly expressed in the testis and plays a critical role in forming functional sperm flagella; mutations in CFAP43 cause severe axonemal disorganization, leading to multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility[1][2][5][6][7]. Experimental knockout of CFAP43 in mice recapitulates human disease phenotypes, including flagellar defects and hydrocephalus due to impaired motile cilia in the brain[1][3][4]. Mutations can also result in chronic respiratory tract disease and, in rare cases, abnormal brain fluid transport leading to normal-pressure hydrocephalus[3][4]. CFAP43 encodes a predicted 1,665-amino-acid protein containing WD40 repeats, believed to mediate protein-protein interactions important for the assembly and functional maintenance of the ciliary axoneme[1][7]. There is no evidence linking CFAP43 to current approved drugs, nor is it recognized as a classical drug target, enzyme, transporter, or receptor.

Other names

CFAP43C10orf79WDR96FLJ36006bA373N18.2FLJ22944WD repeat-containing protein 96HYDNP1SPGF19WD repeat domain 96WD repeat-containing protein C10orf79