Analysis of TSC1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1944-LGZ)

Introduction

Official Full Name: TSC complex subunit 1<br />Also known as: LAM; TSC<br />This gene is a tumor suppressor gene that encodes a growth inhibitory protein haploform. The encoded protein interacts with and stabilizes the GTPase-activating protein tuberin. This malarzyme-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling, a master regulator of anabolic cell growth. This protein also acts as a co-chaperone for Hsp90, inhibiting its ATPase activity. This protein acts as a facilitator of hsp90-mediated folding of kinase and non-kinase clients, including TSC2, thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis.