CLN1 Polyclonal Antibody

Palmitoyl-protein thioesterase 1 (PPT1) Homo sapiens The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4) . Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]