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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



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

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

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

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

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

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NCBI article

NCBI 79848 external link

OMIM.ORG article

Omim 611654 external link

Orphanet article

Orphanet ID 390741 external link
Update: Aug. 14, 2020
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