TPP1, Official Symbol TPP1provided by HGNC Official Full Name tripeptidyl peptidase 1provided by HGNC Primary source HGNC:HGNC:2073 See related Ensembl:ENSG00000166340 MIM:607998; AllianceGenome:HGNC:2073 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 CLN2; GIG1; LPIC; SCAR7; TPP-1 Summary This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008] Annotation information Note: TPP1 (Gene ID: 1200) and ACD (Gene ID: 65057) share the TPP1 symbol/alias in common. TPP1 is a widely used alternative name for ACD, shelterin complex subunit and telomerase recruitment factor (ACD), which can be confused with the official symbol for TPP1 (tripeptidyl peptidase 1, GeneID 1200). [01 Jun 2018] Expression Ubiquitous expression in spleen (RPKM 90.7), appendix (RPKM 64.1) and 25 other tissues See more Orthologs mouse all