ROBO1

Description

The ROBO1 (roundabout guidance receptor 1) is a protein-coding gene located on chromosome 3.

ROBO1 is a protein encoded by the ROBO1 gene in humans. It is structurally similar to a Drosophila protein encoded by the roundabout gene, a member of the immunoglobulin gene superfamily. ROBO1 acts as both an axon guidance receptor and a cell adhesion receptor, playing a role in axonal decisions to cross the central nervous system midline. Two transcript variants encoding different isoforms have been found for ROBO1. ROBO1 has been implicated in a communication disorder, particularly dyslexia. A translocation disrupting ROBO1 was found in a Finnish pedigree with severe dyslexia. ROBO1 polymorphisms are associated with the phonological memory component of language acquisition. The gene is thought to be involved in the brain's ability to represent quantities and has been correlated with better math scores in young children in one limited study.

ROBO1 acts as a receptor for SLIT1 and SLIT2, mediating cellular responses to molecular guidance cues during cell migration. This includes guiding axons at the ventral midline of the neural tube and projecting axons to different regions during neuronal development. ROBO1 interacts with FLRT3's intracellular domain to attract axons towards cells expressing NTN1. The silencing of NTN1's attractive effect by SLIT2 might involve the formation of a ROBO1-DCC complex in axon growth cones. ROBO1 interacts with MYO9B, inhibiting its stimulation of RHOA GTPase activity, which leads to increased levels of active, GTP-bound RHOA. This interaction plays a role in regulating cell migration. ROBO1 may be required for lung development.

ROBO1 is also known as CPHD8, DUTT1, NORS, NYS8, SAX3.

Associated Diseases

• Pituitary hormone deficiency, combined or isolated, 8
• Nystagmus, congenital motor, autosomal recessive
• Pituitary stalk interruption syndrome
• Neurooculorenal syndrome