The cytoskeleton associated protein is composed of a complex interconnected network of filaments. The various proteins comprising the cytoskeleton include actin in microfilaments, tubulin in microtubules, and the heterogeneous group of intermediate filament proteins that are associated with different cell types. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. They contain actin, vimentin, and a group of keratins. One of the protein of the family cytoskeleton-associated protein 2-like (CKAP2L) is reported as a component of the human centrosome, where it was located at the spindle pole, the spindle, and the midbody.
It is important in a wide variety of cellular functions including changes in cell shape, cell motility, mitosis, anchorage-dependent growth, and the localization of cellular organelles such as mitochondria, polyribosomes, and secretory granules. It is a mitotic spindle protein important to neural stem or progenitor cells. The importance of the cytoskeleton is in cell morphology, macromolecular metabolism, particularly with respect to translation of mRNA into protein, and mitosis. Tightly regulated levels of CKAP2L are critical for the proper progression of cell division of neural progenitor cells. Deregulated level of the protein could directly affect the number of neurons generated during prenatal brain development. CKAP2L can be a candidate gene that when mutated might cause a human phenotype with reduced brain size or impaired neuronal function.