Analysis of TPP1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2142-LGZ)

Introduction

Official Full Name: tripeptidyl peptidase 1<br />Also known as: CLN2; GIG1; LPIC; SCAR7; TPP-1<br />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.