|Application ||WB, E|
|Other Accession||NP_071765, 64221|
|Predicted||Pig, Dog, Cow|
|Calculated MW||148209 Da|
|Other Names||Roundabout homolog 3, Roundabout-like protein 3, ROBO3|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-ROBO3 / RIG1 (internal) Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon midline crossing.|
|Cellular Location||Membrane; Single-pass type I membrane protein|
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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.
Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). Khan AO, et al. Ophthalmology, 2008 Dec. PMID 19041479.
Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. Abu-Amero KK, et al. J Neurol Sci, 2009 Jan 15. PMID 18829051.
Genetic analyses of roundabout (ROBO) axon guidance receptors in autism. Anitha A, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Oct 5. PMID 18270976.
Association study between Gilles de la Tourette Syndrome and two genes in the Robo-Slit pathway located in the chromosome 11q24 linked/associated region. Miranda DM, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Jan 5. PMID 17671968.
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. Chan WM, et al. J Med Genet, 2006 Mar. PMID 16525029.
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