Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
| 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
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| 7. |
OMIM.ORG article Omim 611654
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| 8. |
Orphanet article Orphanet ID 390741
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