TPP1 : tripeptidyl peptidase 1
Description
The TPP1 (tripeptidyl peptidase 1) is a protein-coding gene located on chromosome 11.
The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1. This enzyme is produced as an inactive proenzyme, which has an extra segment attached. This segment must be removed, followed by additional processing steps, for the enzyme to become active. The active tripeptidyl peptidase 1 enzyme is found in cell structures called lysosomes, which digest and recycle different types of molecules. Tripeptidyl peptidase 1 acts as a peptidase, breaking down protein fragments, known as peptides, into their individual building blocks (amino acids). Specifically, tripeptidyl peptidase 1 cuts (cleaves) peptides into groups of three amino acids.
TPP1 is a lysosomal serine protease with tripeptidyl-peptidase I activity, which generates tripeptides from the breakdown products produced by lysosomal proteinases. It requires substrates with an unsubstituted N-terminus. These activities have been experimentally demonstrated and are supported by published scientific literature.
TPP1 is also known as CLN2, GIG1, LPIC, SCAR7, TPP-1.
Associated Diseases
- Spinocerebellar ataxia, autosomal recessive 7
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- Ceroid lipofuscinosis, neuronal, 2
- CLN2 disease
