菜单 基因医生

该基因是控制轴突生长、生长锥引导和轴突束化的环行交叉（ROBO）基因家族的成员robo蛋白是免疫球蛋白跨膜受体超家族的一个亚家族。slit蛋白1-3是一个分泌性化学排斥物家族，是robo蛋白的配体，slit/robo相互作用除了调节神经发生外，还调节肌生成、白细胞迁移、肾脏形态发生、血管生成和血管生成。这个基因，Robo3，有一个假定的胞外结构域，有五个免疫球蛋白（Ig）样环和三个纤维连接蛋白（FN）III型基序，一个跨膜段和一个胞质尾，有三个保守的信号基序：CC0、CC2和CC3（CC代表保守的胞质）。与其他机器人家族成员不同的是，机器人3缺少cc1基序。ROBO3基因调节神经管腹中线的轴突导航在小鼠中，ROBO3的丢失导致连合轴突在脊髓和后脑的中线完全不能穿过。ROBO3基因突变导致水平注视麻痹伴进行性脊柱侧凸（HGPPS）；一种常染色体隐性遗传疾病，特征是先天性水平注视缺失，进行性脊柱侧凸，皮质脊髓和体感轴突束不能穿过延髓中线。[由RefSeq提供，2019年5月]
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. [provided by RefSeq, May 2019]