ADP-Ribosylierungsfaktor-like Protein 13B
Das ARL13B-Gen kodiert eine GTPase die ein Funktion bei der Zilienbildung und -Erhaltung besitzt. Mutationen führen zu autosomal rezessivem Joubert-Syndrom 8.
Gentests:
| Klinisch |
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.
[^]
|
| 2. |
Fan Y et. al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
[^]
|
| 3. |
Sun Z et. al. (2004) A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.
[^]
|
| 4. |
Romano S et. al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
[^]
|
| 5. |
Caspary T et. al. (2007) The graded response to Sonic Hedgehog depends on cilia architecture.
[^]
|
| 6. |
Cantagrel V et. al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
[^]
|
| 7. |
Thomas S et. al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
[^]
|
Update: 26. September 2018
