Detection Method:Sandwich
Test principle:This assay employs a two-site sandwich ELISA to quantitate MTMR14 in samples. An antibody specific for MTMR14 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyMTMR14 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for MTMR14 is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of MTMR14 bound in the initial step. The color development is stopped and the intensity of the color is measured.
Product Overview:Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
MTMR14encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18. Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.
