Meyahealth
HomeGeneticsGeneROBO3 gene
Back to Gene
ROBO3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ROBO3 gene

The ROBO3 gene is critical for nervous system development, specifically in guiding nerve cells and axons to their correct positions.

Normal Function

The ROBO3 gene provides instructions for making a protein that is critical for the normal development of the nervous system. This protein is active in the developing spinal cord and the brain, particularly in the brainstem, which connects the upper brain to the spinal cord.

The ROBO3 protein performs two primary functions:

  • Neuronal migration: It helps direct nerve cells (neurons) to their proper positions.
  • Axon guidance: It guides the growth of axons, the extensions of neurons that transmit nerve impulses.

The protein ensures that bundles of axons—including those for motor neurons (voluntary movement) and sensory neurons (touch, pain, temperature)—successfully cross from one side of the body to the other in the brainstem.

Health Conditions Related to Genetic Changes

Horizontal gaze palsy with progressive scoliosis

Variants in the ROBO3 gene have been identified in people with horizontal gaze palsy with progressive scoliosis (HGPPS). Individuals with this condition are unable to move their eyes side-to-side at birth and develop severe side-to-side curvature of the spine (scoliosis) during infancy or early childhood.

In HGPPS, the lack of functional ROBO3 protein causes axons to stay on the same side of the body rather than crossing over in the brainstem. This "miswiring" is believed to cause the associated eye movement abnormalities.

Genomic Location

The ROBO3 gene is found on chromosome 11.

Other Names for This Gene

  • HGPPS1
  • HGPS
  • RBIG1 (retinoblastoma inhibiting gene 1)
  • RIG1
  • Roundabout homolog 3

Frequently Asked Questions

HGPPS is autosomal recessive. Each parent is usually a carrier of one mutant allele. Siblings have a 25 % chance of being affected, a 50 % chance of being carriers, and a 25 % chance of being unaffected. Prenatal or pre‑implantation genetic diagnosis can be offered to at‑risk couples.
Management is supportive: early orthopedic intervention can slow scoliosis progression; physical therapy improves motor function; eye care specialists can assist with vision issues. Speech therapy may help with language delays. Regular monitoring of neurological status and spinal curvature is essential.===
Patients with HGPPS typically cannot move their eyes horizontally from birth (horizontal gaze palsy) and develop a progressive curvature of the spine (scoliosis) during infancy or early childhood. They may also have mild speech delays and normal hearing. These features should prompt consideration of a ROBO3 mutation.
definitive diagnosis is made by sequencing the ROBO3 gene from a blood sample. The test looks for pathogenic missense, nonsense, or splice‑site variants, as well as large deletions. A positive result is confirmed by segregation analysis in the family.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ