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.

Genetests:

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
CSPP1

References:

1.

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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2.

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

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3.

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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4.

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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5.

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

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6.

NCBI article

NCBI 79848 [^]
7.

OMIM.ORG article

Omim 611654 [^]
8.

Orphanet article

Orphanet ID 390741 [^]
Update: April 29, 2019