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CSPP1 is 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.
Gene Name: | Centrosome And Spindle Pole Associated Protein 1 |
Synonyms: | CSPP1, CSPP |
Target Sequences: | NM_024790 NP_079066.5 Q1MSJ5 |
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