Description
Description: This assay employs a two-site sandwich ELISA to quantitate CLN8 in samples. An antibody specific for CLN8 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any CLN8 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for CLN8 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 CLN8 bound in the initial step. The color development is stopped and the intensity of the color is measured.
Overview: CLN8encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.However, the truncated murine mnd mutant protein was found only in the ER. Mutations in the ER retrieval signal KKRP resulted in localization of CLN8 to the Golgi apparatus. The authors concluded that CLN8 is an ER resident protein that recycles between ER and ERGIC