The CEND1 gene is located on chromosome 11p15.5 . The protein encoded by this gene consists of 149 amino acids and has a calculated molecular mass of approximately 15 kDa . It features a central proline-rich region containing four PxxP motifs, which typically bind SRC homology-3 (SH3) domains, a putative C-terminal transmembrane region, and several potential sites for N-glycosylation, myristoylation, and phosphorylation .
CEND1 is predominantly expressed in the brain, with high levels detected in various brain regions, including the cerebellum . It is also expressed, albeit at much lower levels, in the spinal cord . Immunohistochemical studies have shown strong immunoreactivity in the molecular layer, the Purkinje cell layer, and granule neurons of the internal granular layer of the cerebellum .
CEND1 is involved in the terminal neuron-generating divisions, marking the exit of proliferative cells from the cell cycle . It has been shown to enhance neuroblastoma cell differentiation in vitro and is believed to play a similar role in neuronal differentiation in vivo . Forced expression of CEND1 in the neural tube of chicken embryos has been found to have a strong antiproliferative effect, causing neural precursors to prematurely exit the cell cycle and commit to specific differentiation pathways . Conversely, downregulation of CEND1 by small interfering RNA in mouse spinal cord neural progenitor cells enhances proliferation and impairs neuronal differentiation .
Mutations or dysregulation of the CEND1 gene have been associated with several neurological disorders. For instance, diseases such as Early Myoclonic Encephalopathy and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 have been linked to CEND1 . Understanding the role of CEND1 in neuronal differentiation and cell cycle exit is crucial for developing therapeutic strategies for these conditions.
Research on CEND1 continues to provide insights into its role in neurogenesis and its potential applications in regenerative medicine. The recombinant form of CEND1 is used in various experimental setups to study its function and therapeutic potential. By manipulating the expression of CEND1, researchers aim to control the proliferation and differentiation of neural progenitor cells, which could have significant implications for treating neurodegenerative diseases and injuries.