Zentrosomales Protein von 120 kDa
Das CEP120-Gen kodiert ein zentrosomales Protein welches an der Kopplung von Mikrotubuliapperat und Nukleus beteiligt ist. Mutationen sind für autosomal rezessive Erkrankungen wie Joubert-Syndrom 31 und SRTD-Syndrom 13 verantwortlich.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 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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Update: 29. April 2019
