Product Name	MTMR2
Chinese Name	肌管素相关蛋白2抗体
Alias	CMT4B; CMT4B1; KIAA1073; MTMR2; MTMR2_HUMAN; Myotubularin related protein 2; Myotubularin-related protein 2.
Research Area	Cell biology  Neurobiology  Signal transduction
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Chicken, Pig, Cow, Rabbit, Zebrafish, Sheep, )
Applications	WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	73kDa
Cellular localization	cytoplasmic The cell membrane
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human MTMR2: 371-450/643
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	Myotubularin and the myotubularin-related proteins (MTMR1-9) belong to a highly conserved family of eukaryotic phosphatases. They are protein tyrosine phosphatases that utilize inositol phospholipids, rather than phosphoproteins, as substrates. MTMR family members hydrolyze both Phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2. MTMR2 interacts with MTMR5, an inactive family member that increases the enzymatic activity of MTMR2 and dictates its subcellular localization. Mutations in MTMR2 cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1), which is characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination. MTMR3 and MTMR4 can either interact with each other or self associate. MTMR6 regulates the activity of the calcium-activated potassium channel 3.1. MTMR9 regulates the activity of MTMR7 and MTMR8. Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Subunit: Homooligomer and heterooligomer. Interacts with SBF1 and SBF2. Subcellular Location: Cytoplasm. Membrane. Partly associated with membranes. Post-translational modifications: Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures. DISEASE: Defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]. CMT4B1 is a recessive, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 GRAM domain. Contains 1 myotubularin phosphatase domain. SWISS: Q13614 Gene ID: 8898 Database links: Entrez Gene: 536810 Cow Entrez Gene: 606918 Dog Entrez Gene: 101149089 Gorilla Entrez Gene: 100720535 Guinea pig Entrez Gene: 8898 Human Entrez Gene: 77116 Mouse Entrez Gene: 100174264 Orangutan Entrez Gene: 100518140 Pig Entrez Gene: 315422 Rat Entrez Gene: 699703 Rhesus monkey Entrez Gene: 101123404 Sheep Omim: 603557 Human SwissProt: A6QLT2 Cow SwissProt: Q13614 Human SwissProt: Q9Z2D1 Mouse SwissProt: Q5REB9 Orangutan

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