This gene encodes a transmembrane protein belonging to anfamily of proteins containing TLC domains, which are postulated tonfunction in lipid synthesis, transport, or sensing. The proteinnlocalizes to the endoplasmic reticulum (ER), and may recyclenbetween the ER and ER-Golgi intermediate compartment. Mutations innthis gene are associated with progressive epilepsy with mentalnretardation (EMPR), which is a subtype of neuronal ceroidnlipofuscinoses (NCL). Patients with mutations in this gene havenaltered levels of sphingolipid and phospholipids in the brain.
应用类型
WB
免疫原
This CLN8 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 251-280 amino acids from the C-terminal region of human CLN8.
