Full name: palmitoyl-protein thioesterase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CLN1; INCL; PPT

Summary: 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]

Expression: Ubiquitous expression in spleen (RPKM 86.1), lung (RPKM 62.1) and 25 other tissues

Gene size: 25792bp

Exon count: 9