Aliases for CSPP1 Gene
External Ids for CSPP1 Gene
Previous GeneCards Identifiers for CSPP1 Gene
This gene 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 this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
GeneCards Summary for CSPP1 Gene
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.
UniProtKB/Swiss-Prot for CSPP1 Gene
May play a role in cell-cycle-dependent microtubule organization.