CLN8 encodes 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 CLN8 are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in CLN8 have altered levels of sphingolipid and phospholipids in the brain.

Optimal working dilutions should be determined experimentally by the investigator. Suggested starting dilutions are as follows: WB 1:500-2000 ELISA 1:5000-20000.

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Abbkine Scientific Co., Ltd. was founded by a number of scientists and marketing experts in the field of life science in California in 2012. With growing demands from Asia Pacific, it move its headquarters to China. Combining cutting edge technology from United States with China's manufacturing engineering and cost advantages, we aim to provide innovative, high quality assay kits, recombinant proteins, antibodies and other research tools to accelerate life science fundamental research, drug discovery, etc.