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.
Diagnostik:
| Clinic | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 | |
| Probentyp | genomic DNA |
| Research | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 | |
| Probentyp | genomic DNA |
Krankheiten:
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. [^] |
| 2. |
Srour M et. al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. [^] |
| 3. |
Kumar KN et. al. (1995) Cloning of the cDNA for a brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein. [^] |
| 4. |
Satish Tammana TV et. al. (2013) Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly. [^] |
Update: 11. Oktober 2018
