菜单 基因医生

这个基因编码一种叫做translokin的细胞质蛋白。该蛋白定位于中心体，具有稳定微管的功能。该蛋白的n端半部分用于中心体定位和多聚，c端半部分用于成核、捆绑和锚定微管到中心体。该蛋白特异性地与成纤维细胞生长因子2（FGF2）相互作用，分选Nexin 6、RAN结合蛋白M和驱动蛋白KIF3A和KIF3B，从而介导FGF2的核易位和有丝分裂活性。它还与细胞周期蛋白d1相互作用，控制细胞周期蛋白d1在静止细胞中的核质分布。这种蛋白质对于维持细胞分裂过程中正确的染色体数目至关重要。该基因的突变引起了一种罕见的常染色体隐性遗传病——花叶病斑非整倍体综合征。已经鉴定出编码不同亚型的多个选择性剪接转录变体。[由RefSeq提供，2011年8月]
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]