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Myotubularin related protein 2

MTMR2, myotubularin-related protein 2, CMT4B, CMT4B1
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] (from NCBI)
Top mentioned proteins: GDAP1, MPP, Early Growth Response Protein 2, CAN, MTM1
Papers using MTMR2 antibodies
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
Wrabetz Lawrence et al., In The Journal of Cell Biology, 1997
... Mtmr2 (fl/+) animals were crossed with CMV-Cre transgenic mice to excise exon ...
Papers on MTMR2
Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia.
Hung et al., Calgary, Canada. In Carcinogenesis, Nov 2015
Three novel loci in the suggestive range were identified based on our Bayesian framework analyses: KCNIP4 at 4p15.2 (rs6448050, P = 4.6×10(-7)) and MTMR2 at 11q21 (rs10501831, P = 3.1×10(-6)) with SCC, as well as GAREM at 18q12.1 (rs11662168, P = 3.4×10(-7)) with AC.
Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation.
Heo et al., Seoul, South Korea. In Acta Crystallogr D Biol Crystallogr, Jul 2015
Structural comparison and mutation studies suggest that Lys255 of MTMR8 interacts with the substrate diacylglycerol moiety, similar to Lys333 of MTMR2, although the positions of these residues are different.
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.
Grandis et al., Genova, Italy. In Neuropathology, Jun 2015
Whereas myelin outfoldings are a pathological hallmark of autosomal recessive CMT4B1 and CMT4B2, due to mutations in myotubularin-related 2 (MTMR2) and 13 (MTMR13) genes respectively, they may also occur in nerve biopsies from CMT1B patients.
[Review of the recent literature on hereditary neuropathies].
Birouk, Rabat, Morocco. In Rev Neurol (paris), 2014
MTMR2, MTMR13 and FIG4 regulate the metabolism of phosphoinositide at the level of endosomes.
Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
Sunada et al., Kurashiki, Japan. In J Neurol Sci, 2013
Charcot-Marie-Tooth type 4B1 (CMT4B1) is a rare autosomal recessive demyelinating neuropathy caused by mutation of the myotubularin-related 2 (MTMR2) gene.
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Chung et al., Kongju, South Korea. In Neurology, 2013
Clinical phenotypes of affected study participants with CMT4B were similar, to some extent, to patients with CMT4B1 and CMT4B2.
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Vallat et al., Algiers, Algeria. In J Peripher Nerv Syst, 2013
Recent clinical, morphological and molecular investigations of CMT families with autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, NEFL, HSPB1 and MFN2 in axonal forms (ARCMT2).
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
Hayasaka et al., Yamagata, Japan. In J Hum Genet, 2013
We found one patient with a GDAP1 mutation, one patient with an MTMR2 mutation, two patients with SH3TC2/KIAA1985 mutations and three patients with FGD4 mutations.
Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.
Vacratsis et al., Windsor, Canada. In J Cell Sci, 2013
Myotubularin-related 2 (MTMR2) is a 3-phosphoinositide lipid phosphatase with specificity towards the D-3 position of phosphoinositol 3-phosphate [PI(3)P] and phosphoinositol 3,5-bisphosphate lipids enriched on endosomal structures.
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Gibson et al., Atlanta, United States. In Biodata Min, 2012
Detailed analysis of mutations affecting the APOE, MTMR2, THSB1, CHIA, αMyHC, and AMY2A proteins shows how the protein structure is likely to be disrupted, even though the associated phenotypes have not been documented in the corresponding individuals.
Murine Fig4 is dispensable for muscle development but required for muscle function.
Dowling et al., Ann Arbor, United States. In Skelet Muscle, 2012
On the basis of the ability of reduced FIG4 levels to rescue aspects of Mtmr2-dependent neuropathy, we evaluated the effect of Fig4 haploinsufficiency on the myopathy of Mtm1-knockout mice.
Myotubularin phosphoinositide phosphatases in human diseases.
Laporte et al., Illkirch-Graffenstaden, France. In Curr Top Microbiol Immunol, 2011
Several myotubularins have been genetically linked to human diseases: MTM1 is mutated in the congenital myopathy X-linked centronuclear or myotubular myopathy (XLCNM) and MTMR14 (JUMPY) has been linked to an autosomal form of such disease, while MTMR2 and MTMR13 are mutated in Charcot-Marie-Tooth (CMT) neuropathies.
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
Bolino et al., Milano, Italy. In Plos Genet, 2011
Here we provide strong evidence that Mtmr2 and Fig4 functionally interact in both Schwann cells and neurons, and we reveal for the first time a role of Mtmr2 in neurons in vivo
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Tazir et al., Algiers, Algeria. In Neuromuscul Disord, 2011
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.
Vacratsis et al., Windsor, Canada. In J Biol Chem, 2011
MTMR2 phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation events.
The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.
Suter et al., Switzerland. In J Cell Mol Med, 2011
data indicate that Mtmr2 and Mtmr13/Sbf2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in Charcot-Marie-Tooth disease type 4B
The myotubularin family of lipid phosphatases in disease and in spermatogenesis.
Cheng et al., New York City, United States. In Biochem J, 2011
Interestingly, studies have shown MTMR2 and MTMR5, two MTM family members, to be highly expressed in the testis, particularly in Sertoli and germ cells, and knockout of either gene resulted in spermatogenic defects.
Respiratory muscle weakness in peripheral neuropathies.
Höke et al., Washington, D.C., United States. In J Peripher Nerv Syst, 2010
The linkage has been described between certain subtypes of Charcot-Marie-Tooth (CMT) disease such as CMT2C and CMT4B1 and diaphragmatic weakness.
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Tang et al., Changsha, China. In Yi Chuan, 2010
Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients.
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Monaco et al., Oxford, United Kingdom. In Nat Genet, 2000
Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).
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