Tripeptidyl Peptidase I (TPP1) Antibody – Rabbit Polyclonal

This gene encodes a lysosomal serine protease that cleaves N-terminal tripeptides from protein substrates. The encoded preproprotein undergoes autocatalytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit a progressive neurodegeneration and a greatly shortened lifespan. At the cellular level, mice lacking the encoded protein exhibit accumulation of autofluorescent lipopigments. Mutations in the human ortholog of this gene cause classical late-infantile neuronal ceroid lipofuscinosis. [provided by RefSeq, Nov 2015]

TPP1: Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus. Defects in TPP1 are the cause of neuronal ceroid lipofuscinosis type 2 (CLN2). A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles. Belongs to the peptidase S53 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.4.14.9; Mitochondrial; Protease; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7 E3|7 55.97 cM

Cellular Component: lysosome; mitochondrion

Molecular Function: endopeptidase activity; hydrolase activity; metal ion binding; peptidase activity; peptide binding; protein binding; serine-type endopeptidase activity; serine-type peptidase activity; tripeptidyl-peptidase activity

Biological Process: bone resorption; central nervous system development; lysosome organization and biogenesis; nervous system development; neuromuscular process controlling balance; peptide catabolic process; proteolysis