CCDC120 is a centriolar coiled-coil domain protein with dual roles in centrosome function and neuronal development. As a centriole subdistal appendage (SDA) component, CCDC120 is anchored to SDAs by ODF2 and recruits both CEP170 and Ninein to centrosomes through distinct N-terminal coiled-coil domains 1. Together with CCDC68, it participates in hierarchical SDA assembly and is essential for microtubule anchoring in interphase cells 1. The CEP170-CCDC120 interaction is particularly critical for cortical development, where CEP170 depletion impairs neural progenitor proliferation and causes neuronal migration deficits through disrupted centrosome-microtubule interactions 2. In neurite growth, CCDC120 localizes the Arf6 guanine nucleotide exchange factor cytohesin-2 to vesicles that are transported anterogradely along extending neurites, enabling ARF6 activation and promoting neuritogenesis 3. CCDC120 loss-of-function inhibits this process, impairing both neurite extension and Arf6 activity. Clinically, a hemizygous missense variant in CCDC120 has been identified as a candidate gene associated with high bone mass 4, suggesting potential roles in skeletal development. These findings establish CCDC120 as a multifunctional scaffold protein linking centrosomal organization to neuronal and skeletal development.
No tissue expression data available for this gene.