Description
Description: This assay employs a two-site sandwich ELISA to quantitate FKTN in samples. An antibody specific for FKTN has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any FKTN present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for FKTN 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 FKTN bound in the initial step. The color development is stopped and the intensity of the color is measured.
Overview: Fukutin is a protein associated with Fukuyama congenital muscular dystrophy.It has also been associated with dilated cardiomyopathy.The protein is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Two transcript variants encoding the same protein have been found for this gene.Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle