ROBO1

Ideogram human chromosome 3

ROBO1

ROBO1 is a gene that encodes a member of the roundabout guidance receptor family. This gene is located on chromosome 3 in humans. The protein encoded by ROBO1 is a transmembrane receptor that plays a crucial role in axon guidance during neural development.

Function

The ROBO1 protein is involved in regulating the growth of axons and dendrites during neuronal development. It acts as a receptor for the Slit family of guidance cues, which help to guide axons to their appropriate targets. ROBO1 signaling is essential for establishing proper neuronal connections in the developing nervous system.

Structure

ROBO1 is a type I transmembrane protein that contains several conserved domains, including immunoglobulin-like domains and fibronectin type III repeats. These domains are important for ligand binding and signal transduction. The extracellular region of ROBO1 interacts with Slit proteins, while the intracellular domain mediates downstream signaling events.

Clinical Significance

Mutations in the ROBO1 gene have been associated with various neurological disorders, including autism spectrum disorders and schizophrenia. Dysregulation of ROBO1 signaling can disrupt normal neuronal connectivity and contribute to the pathogenesis of these conditions. Understanding the role of ROBO1 in neural development may provide insights into the mechanisms underlying these disorders.

Interactions

ROBO1 interacts with several other proteins involved in axon guidance and neuronal development. These interactions help to coordinate the guidance of axons and dendrites to their appropriate targets. Some of the proteins that interact with ROBO1 include SLIT1, SLIT2, and various cytoplasmic signaling molecules.

References

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