靶标:
MTMR2
产品别名:
CMT4B; CMT4B1; MTMR2; myotubularin related protein 2; myotubularin related protein 2; myotubularin-related protein 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphatase; phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase; 肌管素相关蛋白2;
背景信息:
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene. This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.