Description
Description: This assay employs a two-site sandwich ELISA to quantitate CLRN2 in samples. An antibody specific for CLRN2 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any CLRN2 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for CLRN2 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 CLRN2 bound in the initial step. The color development is stopped and the intensity of the color is measured.
Overview: CLRN2 belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown.Clarin1 may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. The USH3A protein has a cytosolic N terminus, 2 helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C terminus. Northern blot analysis detected ubiquitous expression of 3 USH3A transcripts of 4.5 kb, 1.4 kb, and 2.0 kb in adult human tissues. RT-PCR analysis detected expression in retina