Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Centrosome and spindle pole-associated protein 1

The CSPP1 gene encodes a protein that is involved in cell division spindle and cilia formation. Mutations cause autosomal recessive Joubert syndrome 21.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 21



Patzke S et. al. (2005) Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.


Patzke S et. al. (2006) CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.


Shaheen R et. al. (2014) Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.


Akizu N et. al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome.


Tuz K et. al. (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

Update: Oct. 11, 2018