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FIGURE: 1 / 3
Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Antibody detects endogenous levels of total MTM1.
Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on hosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking. Wildtype myotubularin can directly dephosphorylate PI 3-P and PI 4-P in vitro. Thus, it decreases PI 3-P levels by down-regulating PI 3-K activity and by facilitating the degradation of PI 3-P.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Myotubularin; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; X-linked myotubular myopathy gene 1
Gene Aliases: AF073996; CG2; mKIAA4176; Mtm; MTM1
UniProt ID: (Rat) Q6AXQ4, (Mouse) Q9Z2C5
Entrez Gene ID: (Rat) 288762, (Mouse) 17772
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