Roundabout-Homolog 2
Das ROBO2-Gen kodiert einen transmembranösen Rezeptor. Mutationen sind für autosomal dominanten vesicoureteralen Reflux 2 verantwortlich.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Lu W et al. (2007) Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
|
| 2. |
Kidd T et al. (1998) Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors.
|
| 3. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
|
| 4. |
Fricke C et al. (2001) astray, a zebrafish roundabout homolog required for retinal axon guidance.
|
| 5. |
Bagri A et al. (2002) Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain.
|
| 6. |
Grieshammer U et al. (2004) SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site.
|
| 7. |
Yue Y et al. (2006) Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice.
|
| 8. |
Xiao T et al. (2011) Assembly of lamina-specific neuronal connections by slit bound to type IV collagen.
|
| 9. |
NCBI article
NCBI 6092
|
| 10. |
OMIM.ORG article
Omim 602431
|
| 11. |
Orphanet article
Orphanet ID 289371
|
Update: 23. Juni 2025