Abstract：
The myotubularin family, encompassing myotubularin 1 (MTM1) and 14 myotubularin-related proteins (MTMRs), represents a conserved group of phosphatases featuring a protein tyrosine phosphatase domain. Nine members are characterized by an active phosphatase domain C(X)5R, dephosphorylating the D3 position of PtdIns(3)P and PtdIns(3,5)P2. Mutations in myotubularin genes result in human myopathies, and several neuropathies including X-linked myotubular myopathy and Charcot-Marie-Tooth type 4B. MTM1, MTMR6 and MTMR14 also contribute to Ca2+ signaling and Ca2+ homeostasis that play a key role in many MTM-dependent myopathies and neuropathies. Here we explore the evolving roles of MTM1/MTMRs, unveiling their influence on critical aspects of Ca2+ signaling pathways.
摘要：
肌管蛋白家族，包括肌管蛋白1（MTM1）和14种肌管蛋白相关蛋白（MTMR），代表以蛋白酪氨酸磷酸酶结构域为特征的磷酸酶的保守组。9个成员的特征是活性磷酸酶结构域C（X）5R，对PtdIns(3)P和PtdIns(3,5)P2的D3位置进行去磷酸化。肌管蛋白基因突变导致人类病理肌病，和几种神经病，包括X连锁肌管肌病和Charcot-Marie-Tooth4B型。MTM1，MTMR6和MTMR14的影响有助于Ca2信号传导和Ca2稳态，这是许多MTM依赖性肌病和神经病变的关键贡献者。在这里，我们探讨了MTM1/MTMR的不断演变的作用，揭示了它们对Ca2+信号通路关键方面的影响。
