Girish Mahajan (Editor)

ROBO1

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Species
  
Entrez
  
6091

Human
  
Ensembl
  
ENSG00000169855

Aliases
  
ROBO1, DUTT1, SAX3, roundabout guidance receptor 1

External IDs
  
MGI: 1274781 HomoloGene: 2206 GeneCards: ROBO1

Roundabout homolog 1 is a protein that in humans is encoded by the ROBO1 gene.

Contents

Function

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline]. In Drosophila, the roundabout gene, a member of the immunoglobulin gene superfamily, encodes an integral membrane protein that is both an axon guidance receptor and a cell adhesion receptor. This receptor is involved in the decision by axons to cross the central nervous system midline. The protein encoded by this gene is structurally similar to the Drosophila roundabout protein. Two transcript variants encoding different isoforms have been found for this gene.

Clinical significance

ROBO1 was implicated in communication disorder based on a Finnish pedigree with severe dyslexia. Analyses revealed a translocation had occurred disrupting ROBO1. Study of the phonological memory component of the language acquisition system suggests that ROBO1 polymorphisms are associated with functioning in this system.

References

ROBO1 Wikipedia


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