This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and;axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT;proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate;myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis.;This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin;(Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2,;and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene;regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete;failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result;in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by;congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon;tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been;experimentally validated.
ROBO3; roundabout, axon guidance receptor, homolog 3 (Drosophila); HGPPS, horizontal gaze palsy with progressive scoliosis , roundabout (axon guidance receptor, Drosophila) homolog 3; roundabout homolog 3; FLJ21044; HGPS; RBIG1; HGPPS; RB inhibiting gene 1; Rbig 1; Retinoblastoma inhibiting gene 1; Rig 1; Rig1; Robo 3; Robo3 protein; Roundabout axon guidance receptor homolog 3; Roundabout like protein 3; roundabout-like protein 3; cb503; twi; twitch twice; roundabout (axon guidance receptor, Drosophila) homolog 3