Laporte J, Blondeau F, Buj-Bello A, Mandel J L
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 1 rue Laurent Fries, BP163, 67404 Illkirch Cedex, C.U. de, Strasbourg, France.
Trends Genet. 2001 Apr;17(4):221-8. doi: 10.1016/s0168-9525(01)02245-4.
The myotubularin-related genes define a large family of eukaryotic proteins, most of them initially characterized by the presence of a ten-amino acid consensus sequence related to the active sites of tyrosine phosphatases, dual-specificity protein phosphatases and the lipid phosphatase PTEN. Myotubularin (hMTM1), the founder member, is mutated in myotubular myopathy, and a close homolog (hMTMR2) was recently found mutated in a recessive form of Charcot-Marie-Tooth neuropathy. Although myotubularin was thought to be a dual-specificity protein phosphatase, recent results indicate that it is primarily a lipid phosphatase, acting on phosphatidylinositol 3-monophosphate, and might be involved in the regulation of phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking.
与肌管素相关的基因定义了一个大型的真核生物蛋白质家族，其中大多数最初是通过与酪氨酸磷酸酶、双特异性蛋白磷酸酶以及脂质磷酸酶PTEN的活性位点相关的十个氨基酸共有序列来表征的。该家族的创始成员肌管素（hMTM1）在肌管性肌病中发生突变，最近还发现一个密切同源物（hMTMR2）在隐性遗传性夏科-马里-图斯神经病中发生突变。尽管肌管素曾被认为是一种双特异性蛋白磷酸酶，但最近的研究结果表明，它主要是一种脂质磷酸酶，作用于磷脂酰肌醇3-单磷酸，可能参与磷脂酰肌醇3-激酶（PI 3-激酶）途径的调节和膜运输。
