Catalog No.
YHG61001
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Lys85-Glu591
Predicted molecular weight
61.06 kDa
Nature
Recombinant
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q13614
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase, Myotubularin-related protein 2, MTMR2, KIAA1073
Note
For research use only.
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression., PMID:23297362
Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain., PMID:23342162
Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes., PMID:23378027
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan., PMID:23466821
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'., PMID:23781969
Mild phenotype of Charcot-Marie-Tooth disease type 4B1., PMID:23962696
Mouse models of PI(3,5)P2 deficiency with impaired lysosome function., PMID:24359958
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation., PMID:24365473
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation., PMID:25388615
[Review of the recent literature on hereditary neuropathies]., PMID:25459128
Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation., PMID:26143924
Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity., PMID:27018598
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy., PMID:27155155
Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat., PMID:27335132
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2., PMID:27466180
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination., PMID:27799291
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement., PMID:28005197
Associations Between Genome-wide Gene Expression and Ambient Nitrogen Oxides., PMID:28151741
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature., PMID:28190646
Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sézary syndrome., PMID:28489605
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1., PMID:28509084
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy., PMID:28934386
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice., PMID:29408998
Myotubularin related protein-2 and its phospholipid substrate PIP2 control Piezo2-mediated mechanotransduction in peripheral sensory neurons., PMID:29521261
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination., PMID:30419760
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)., PMID:31070812
MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling., PMID:31113461
Endosomal PI(3)P regulation by the COMMD/CCDC22/CCDC93 (CCC) complex controls membrane protein recycling., PMID:31537807
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking., PMID:31680794
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report., PMID:32488727
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth., PMID:32503983
Confounding clinical presentation and different disease progression in CMT4B1., PMID:32586600
MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1., PMID:32767332
Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease., PMID:32815244
Chromosomal imbalances detected in NTRK-rearranged sarcomas by the use of comparative genomic hybridisation., PMID:33128780
The molecular basis of gender disparities in smoking lung cancer patients., PMID:33358908
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy., PMID:33653949
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants., PMID:34354735
Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination., PMID:34718573
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review., PMID:35383421
Ribosomal targeting strategy and nuclear labeling to analyze photoreceptor phosphoinositide signatures., PMID:35427794
Myotubularin-related phosphatase 5 is a critical determinant of autophagy in neurons., PMID:35580604
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease., PMID:35938991
Myotubularin functions through actomyosin to interact with the Hippo pathway., PMID:36285521
Function of TRPC1 in modulating hepatocellular carcinoma progression., PMID:36797544
Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy., PMID:37400349
An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma., PMID:37907649
Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1., PMID:38835974
For research use only. Not for human or drug use.
