Cilia and flagella associated protein 74 (CFAP74)

Cilia and flagella associated protein 74 (CFAP74) is a protein critical for the proper formation and function of motile cilia and flagella[1][2][4]. It is predicted to be involved in axoneme assembly and is localized in the cytoplasm, nucleus, and sperm flagellum[1][4]. Biallelic (recessive) mutations in CFAP74 have been demonstrated to cause primary ciliary dyskinesia (PCD), a rare inherited disorder characterized by impaired mucociliary clearance leading to chronic respiratory disease, recurrent upper and lower airway infections, and in males, infertility due to abnormal sperm flagellar structure (multiple morphological abnormalities of the sperm flagella, MMAF)[1][2][3][4]. Individuals with CFAP74 mutations may show subtle ciliary beating irregularities despite normal ultrastructure on electron microscopy[2][3]. Additionally, CFAP74 expression and methylation status are regulated in a tissue-specific manner, suggesting broader roles in cellular differentiation[1]. Mutations in the gene have also been identified in some endometrial cancers, suggesting a potential but as-yet uncharacterized role in neoplastic processes[1]. CFAP74 is a member of a larger family of ciliary proteins but is not a receptor, enzyme, transporter, or transcription factor; instead, it functions as a structural and regulatory protein within the central apparatus of the axoneme[1][2][3][4]. No known pharmacological modulators or drugs currently target CFAP74, and it has not been reported as a direct therapeutic target in clinical applications[1][2][3][4]. However, CFAP74 mutation status may serve as a genetic biomarker, especially for diagnosis and patient selection in primary ciliary dyskinesia and related motile ciliopathies[1][2][3].

Other names

C1orf222KIAA1751FLJ45476CILD49cilia- and flagella-associated protein 74