CLN2 Antibody – Rabbit Polyclonal

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]

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

Chromosomal Location of Human Ortholog: 11p15

Cellular Component: lysosomal lumen; mitochondrion; lysosome; melanosome

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

Biological Process: nervous system development; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; epithelial cell differentiation; lysosome organization and biogenesis; unfolded protein response; peptide catabolic process; protein catabolic process; lipid metabolic process; neuromuscular process controlling balance; proteolysis; bone resorption

Disease: Ceroid Lipofuscinosis, Neuronal, 2