ROBO3
Function
Receptor involved in axon guidance during development (PubMed:15105459). Acts as a multifunctional regulator of pathfinding that simultaneously mediates NELL2 repulsion, inhibits SLIT repulsion, and facilitates Netrin-1/NTN1 attraction. In spinal cord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1/ROBO2. Binding OF NELL2 to the receptor ROBO3 promotes oligomerization of ROBO3, resulting in the repulsion of commissural axons in the midline. ROBO3 also indirectly boosts axon attraction to NTN1 without interacting with NTN1 itself (By similarity).
Involvement in disease
Gaze palsy, familial horizontal, with progressive scoliosis, 1
HGPPS1
An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the immunoglobulin superfamily. ROBO family.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
Roundabout homolog 3, Roundabout-like protein 3, ROBO3