ROBO3 : roundabout guidance receptor 3

Description

ROBO3, also known as RIG-1, is a transmembrane protein that plays a crucial role in axonal guidance, the process by which neurons extend their axons to reach their targets. It acts as a receptor for Slit proteins, a family of secreted guidance cues. ROBO3 is involved in various aspects of nervous system development, including the formation of the corpus callosum, the major pathway connecting the two hemispheres of the brain, and the development of the visual system. Mutations in the ROBO3 gene can lead to a range of developmental disorders.

Associated Diseases

• Corpus Callosum Agenesis (CCA)
• Holoprosencephaly
• Seizures
• Intellectual Disability
• Visual Impairment
• Craniofacial Abnormalities
• Skeletal Malformations

Did you know?

ROBO3 is named after the ‘robo‘ mutant in Drosophila, which displayed a ‘robotic‘ walking pattern due to defects in axonal guidance.