Anti-PPT1 Antibody

Description

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