CSPP1

Chr 8AR

centrosome and spindle pole associated protein 1

Also known as: CSPP, CSPP-L, JBTS21

NCBI Gene: 79848 ENSG00000104218 UniProt: Q1MSJ5 OMIM: 611654

The encoded protein is a centrosome and spindle pole associated protein required for cilia formation, cell-cycle progression, and spindle organization. Mutations cause Joubert syndrome 21, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delay, and distinctive brainstem malformation. This condition follows autosomal recessive inheritance and has a GeneReviews entry available for detailed clinical guidance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Joubert syndrome 21MIM #615636

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CSPP1