CSPP1 (Centrosome And Spindle Pole Associated Protein 1) is a Protein Coding gene. Diseases associated with CSPP1 include Joubert Syndrome 21 and Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy. CSPP1 encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in CSPP1 result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for CSPP1.
