Detection Method:Sandwich
Test principle:This assay employs a two-site sandwich ELISA to quantitate TMEM67 in samples. An antibody specific for TMEM67 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyTMEM67 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for TMEM67 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 TMEM67 bound in the initial step. The color development is stopped and the intensity of the color is measured.
Product Overview:TMEM67 localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). The human TMEM67 gene encodes a 995-amino acid protein, which they authors called meckelin, with a calculated unglycosylated weight of 108 kD. Human and rat meckelin share 84% identity. Meckelin was predicted to contain a signal peptide, at least 2 cysteine-rich repeats, and a 490-residue extracellular region with 4 N-linked glycosylated sites, followed by 7 transmembrane domains and a 30-residue cytoplasmic tail.
