Western Blotting (WB), Immunohistochemistry (Paraffin-embedded Sections) (IHC (p))
Homologie
B
Aufreinigung
This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis against PBS.
Immunogen
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.
Konservierungsmittel
Sodium azide
Vorsichtsmaßnahmen
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Lagerung
4 °C,-20 °C
Haltbarkeit
6 months
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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." in: Human genetics, Vol. 112, Issue 2, pp. 135-42, (2003) (PubMed).
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Sutton, Winer, Norman, Liechti-Gallati, MacDonald: "Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations." in: 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.