Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CEP120 gene encodes a centrosomal protein that is involved in coupling of microtubuli and nucleus. Mutations cause autosomal recessive Joubert syndrome 31 and Short-rib thoracic dysplasia with or without polydactyly 13.
| 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. |
Roosing S et al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 
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| 2. |
Shaheen R et al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
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| 3. |
Xie Z et al. (2007) Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.
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| 4. |
Hutchins JR et al. (2010) Systematic analysis of human protein complexes identifies chromosome segregation proteins.
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| 5. |
Mahjoub MR et al. (2010) Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.
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| 6. |
Comartin D et al. (2013) CEP120 and SPICE1 cooperate with CPAP in centriole elongation.
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| 7. |
Lin YN et al. (2013) CEP120 interacts with CPAP and positively regulates centriole elongation.
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| 8. |
Orphanet article Orphanet ID 422916
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| 9. |
NCBI article NCBI 153241
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| 10. |
OMIM.ORG article Omim 613446
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| 11. |
Wikipedia article Wikipedia EN (CEP120)
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