Symbol: Name: ID: |
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) GFS:3020 |
Gene name: | ROBO3 |
Chromosome: | 11q24 |
Previous Symbols: | HGPPS |
Previous Names: | roundabout (axon guidance receptor, Drosophila) homolog 3, "horizontal gaze palsy with progressive scoliosis" |
Aliases: | RBIG1, FLJ21044, HGPS |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1343102 | Rat Genome Database ID: | RGD:1311018 |
HGNC ID: | HGNC:13433 | RefSeq IDs: | NM_022370 |
Entrez Gene ID: | 64221 | Ensembl Gene ID: | ENSG00000154134 |
VEGA IDs: | UniProt ID: | Q96MS0 | |
UCSC ID: | uc001qbc.2 | OMIM ID: | 608630 |
Pubmed: | PMID15105459 | ||
CCDS IDs: | CCDSCCDS44755.1 |
Roundabout homolog 3 is a protein that in humans is encoded by the ROBO3 gene.
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. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for ROBO3 gene
Catalog | Product Name | Application | Company |
GFS:E03020 | roundabout, axon guidance receptor, homolog 3 (Drosophila); ELISA kit | ELISA | n/a |
GFS:A03020 | roundabout, axon guidance receptor, homolog 3 (Drosophila); Anti | ANTIBODIES | n/a |
GFS:P03020 | roundabout, axon guidance receptor, homolog 3 (Drosophila); Protien | Protien | n/a |