Zentrosomales Protein von 164 kDa
Das Gen CEP164 kodiert ein zentrosomales Protein, welches bei der Organisation der Mikrotubuli, der Reparatur von DNA-Schäden und der Segregation von Chromosomen beteiligt ist. Mutationen in diesem Gen sind für die autosomal rezessive Nephronophthise 15 verantwortlich.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Humbert MC et al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
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2. |
Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
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3. |
Kikuno R et al. (1999) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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4. |
Andersen JS et al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling.
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5. |
Graser S et al. (2007) Cep164, a novel centriole appendage protein required for primary cilium formation.
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6. |
Sivasubramaniam S et al. (2008) Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.
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7. |
Pan YR et al. (2009) UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.
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8. |
NCBI article
NCBI 22897
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9. |
OMIM.ORG article
Omim 614848
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10. |
Orphanet article
Orphanet ID 313834
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Update: 14. August 2020