PPT1, Official Symbol PPT1provided by HGNC Official Full Name palmitoyl-protein thioesterase 1provided by HGNC Primary source HGNC:HGNC:9325 See related Ensembl:ENSG00000131238 MIM:600722; AllianceGenome:HGNC:9325 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPT; CLN1; INCL 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 See more Orthologs mouse all