Mar 7, 2013 · Seven cases were found to carry CMT4-causing gene mutations: one case with a GDAP1 mutation, one case with an MTMR2 mutation, two cases with ...

MTMR2 encodes a ubiquitously expressed phosphatase whose preferred substrate is phosphatidylinositol (3,5)-biphosphate, a regulator of membrane homeostasis ...

Jan 16, 2009 · Previtali et al. found that NEFL interacts with MTMR2 in both Schwann's cells and neurons. In addition, MTMR2 encodes a phosphatase and MTMR2 ...

Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral neuropathy-affecting motor and sensory nerves of the peripheral nervous system. The ...

1, gene symbol, MTMR2, species, Homo sapiens (Human). protein Name, Myotubularin-related protein 2, num of unique AS variants, 2.

... MTMR knock-out mice display distinct phenotypes. Because MTMR2 forms a heterotetramer with MTMR13 (9), mutation in MTMR2 and MTMR13 causes Charcot-Marie ...

Mar 18, 2019 · Based on crystal structures of MTMR1 and MTMR2, and the identity of primary sequences among MTMR1, MTMR2, and myotubularin, the structural ...

MTMR2 can bind to the catalytically inactive MTMR family members MTMR5 and ... MTMR2 knockout mice bearing loxP sites flanking exon 6 of the MTMR2 gene.

... MTMR2, and MTMR13 are causative genes for human genetic disorders such as X-linked centronuclear myopathy and Charcot–Marie–Tooth neuropathy (25) ...

Charcot-Marie-Tooth disease (CMT) is the most common phenotype of inherited peripheral neuropathy (IPN), the latter of which also encompass hereditary sensory ...