Description
Description: This assay employs a two-site sandwich ELISA to quantitate EXT2 in samples. An antibody specific for EXT2 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any EXT2 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for EXT2 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 EXT2 bound in the initial step. The color development is stopped and the intensity of the color is measured.
Overview: Exostosin-2 is one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses.By positional cloning and use of a chromosome 11-specific fetal brain cDNA library, Stickens et al. (1996) identified the putative EXT2 gene, which was predicted to encode a 718-amino acid protein with a molecular mass of 82 kD. Both protein and DNA sequence-based algorithms detected significant similarity with the product of the EXT1 gene, suggesting that the 2 genes are evolutionarily and functionally related. Northern blot analysis detected a major 3.5-kb mRNA transcript and a minor band of 3.7 to 4.0 kb in most tissues. EXT2 gene may be expressed as a complex set of alternatively spliced forms