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Human Monoclonal MTMR2 Primary Antibody for ELISA, WB - ABIN563874
Bolis, Coviello, Visigalli, Taveggia, Bachi, Chishti, Hanada, Quattrini, Previtali, Biffi, Bolino: Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. in The Journal of neuroscience : the official journal of the Society for Neuroscience 2009
report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review
Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 (show MTM1 Antibodies) loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10 (show SOX10 Antibodies), and is nearly ablated in Schwann cells by impairing SOX10 (show SOX10 Antibodies) function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform
we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings
these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK (show MAPK1 Antibodies)-mediated differential phosphorylation events.
Mutations in LITAF (show LITAF Antibodies), RAB7 (show RAB7B Antibodies), LMNA (show LMNA Antibodies), and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients.
Novel mutations in the PRX (show PRDX6 Antibodies) and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
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.
MTMR2 shares similar phosphatase activity and substrate specificity than its homologous proteins MTM1 (show MTM1 Antibodies) and MTMR3 (show MTMR3 Antibodies)
REVIEW : MTMR2 belongs to the myotubularin (show MTM1 Antibodies) family of phosphoinositides phosphatases
Mtmr2 and Mtmr13 depend upon each other to achieve wild-type levels of protein expression. Mtmr2 stabilizes Mtmr13 on membranes, indicating that the Mtmr13 pseudophosphatase is regulated by its catalytically active binding partner.
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
Here we provide strong evidence that Mtmr2 and Fig4 (show FIG4 Antibodies) functionally interact in both Schwann cells and neurons, and we reveal for the first time a role of Mtmr2 in neurons in vivo
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1
Mtmr2 forms a dimer and the C-terminal coiled-coil is responsible for homodimerization, in addition to membrane association
Schwann cell-autonomous loss of Mtmr2-Dlg1 (show DLG1 Antibodies) interaction dysregulates membrane homeostasis in the paranodal region, thereby producing outfolding and recurrent loops of myelin.
Loss of Mtmr2 in Schwann cells, but not in motor neurons, is both sufficient and necessary to cause Charcot-Marie-Tooth type neuropaathy.
Interaction of Discs large 1 (Dlg1 (show DLG4 Antibodies)) with the Sec8 (show EXOC4 Antibodies) exocyst component promotes membrane addition, whereas with Mtmr2, negatively regulates membrane formation.
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.
myotubularin related protein 2
, myotubularin-related protein 2
, myotubularin-related protein 2-like
, Myotubularin-related protein 2