Western Blotting (WB), Immunohistochemistry (Paraffin-embedded Sections) (IHC (p))
Homologie
B
Purification
This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis against PBS.
Immunogène
This MTM1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 1-30 amino acids from the N-terminal region of human MTM1.
Purified polyclonal antibody supplied in PBS with 0.09 % (W/V) sodium azide.
Agent conservateur
Sodium azide
Précaution d'utilisation
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Stock
4 °C,-20 °C
Date de péremption
6 months
Jian, Cheng, Jiang, Deng, Hu, Zhang: "A cDNA-based random RNA interference library for functional genetic screens in embryonic stem cells." dans: Stem cells (Dayton, Ohio), Vol. 25, Issue 8, pp. 1904-12, (2007) (PubMed).
Nandurkar, Layton, Laporte, Selan, Corcoran, Caldwell, Mochizuki, Majerus, Mitchell: "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP." dans: Proceedings of the National Academy of Sciences of the United States of America, Vol. 100, Issue 15, pp. 8660-5, (2003) (PubMed).
Biancalana, Caron, Gallati, Baas, Kress, Novelli, DApice, Lagier-Tourenne, Buj-Bello, Romero, Mandel: "Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype." dans: Human genetics, Vol. 112, Issue 2, pp. 135-42, (2003) (PubMed).
Herman, Kopacz, Zhao, Mills, Metzenberg, Das: "Characterization of mutations in fifty North American patients with X-linked myotubular myopathy." dans: Human mutation, Vol. 19, Issue 2, pp. 114-21, (2002) (PubMed).
Wishart, Dixon: "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease." dans: Trends in cell biology, Vol. 12, Issue 12, pp. 579-85, (2002) (PubMed).
Sutton, Winer, Norman, Liechti-Gallati, MacDonald: "Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations." dans: Neurology, Vol. 57, Issue 5, pp. 900-2, (2001) (PubMed).
MTM1 is a member of a protein family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in MTM1 have been identified as being responsible for X-linked myotubular myopathy. MTM1 is a potent phosphatidylinositol 3-phosphate phosphatase (PI(3)P). Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of the phosphatase to dephosphorylate PI(3)P. The findings provided evidence that myotubularin exerts its effects during myogenesis by regulating the cellular levels of the inositol lipid PI(3)P.