epitope mapping near the C-terminus of CLN1 of human origin
recommended for detection of CLN1 of human and, to a lesser extent, mouse and rat origin by WB, IF and ELISA; also reactive with additional species, including equine, canine and bovine
CLN1 Background Information CLN1 (ceroid lipofuscinosis 1), also known as PPT, INCL or PPT1 (palmitoyl-protein thioesterase 1), is a 306 amino acid glycosylated protein that localizes to lysosome and is a member of the palmitoyl-protein thioesterase family. CLN1 functions to remove thioester-linked fatty acyl groups from a variety of substrates, such as as palmitate, from modified cysteine residues in proteins or peptides during lysosomal degradation. Defects in the gene encoding CLN1 are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1 or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, with clinical symptoms including seizures, dementia, visual loss and/or cerebral atrophy.
