Zentrosomales Protein von 104 kDa
Das CEP104-Gen kodiert ein zentrosomales Protein, welche für die Ziliogenese und die Bildung der Zilienspitze verantwortlich ist. Mutationen führen zu autosomal rezessivem Joubert-Syndrom 25.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| 2. |
Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
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| 3. |
Kumar KN et al. (1995) Cloning of the cDNA for a brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein.
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| 4. |
Satish Tammana TV et al. (2013) Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.
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| 5. |
NCBI article
NCBI 9731 [^]
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| 6. |
OMIM.ORG article
Omim 616690 [^]
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| 7. |
Orphanet article
Orphanet ID 448865 [^]
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Update: 9. Mai 2019
