The myotubularin family: from genetic disease to phosphoinositide metabolism

被引：86

作者：

Laporte, J ^{[1
]}

Blondeau, F ^{[1
]}

Buj-Bello, A ^{[1
]}

Mandel, JL ^{[1
]}

机构：

[1] ULP, Inst Genet & Biol Mol & Cellulaire, CNRS, INSERM, F-67404 Illkirch, CU De Strasbour, France

来源：

TRENDS IN GENETICS | 2001年 / 17卷 / 04期

关键词：

D O I：

10.1016/S0168-9525(01)02245-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：221 / 228

页数：8

共 45 条

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