Gene Symbol | CSPP1 |
Entrez Gene ID | 79848 |
Full Name | centrosome and spindle pole associated protein 1 |
Synonyms | CSPP,JBTS21 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 21, 615636 (3) |