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

Gene Location. MTMR2. myotubularin related protein 2. Location: Chromosome 11, NC_000011.10 (95832880..95924207, complement) · PDB Entries; Metabolic Pathways ...

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 ...

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.

Because MTMR2 forms a heterotetramer with MTMR13 (9), mutation in MTMR2 and MTMR13 causes Charcot-Marie-Tooth disease (types 4B1 and 4B2, respectively), a ...

Some of the family members, including MTM1, MTMR2, and MTMR9, translocate from cytoplasm to the Rac1-induced membrane ruffles in the PM (63). In Drosophila, ...

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 ...

18, gene symbol, MTMR2, species, Homo sapiens (Human). protein Name, Myotubularin-related protein 2, num of AS variants, 2. AS position, N-ter, AS type, INDEL ...

Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), ...