Analysis of VCP Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2038-LGZ)

Introduction

Official Full Name: valosin containing protein<br />Also known as: p97; TERA; CDC48; FTDALS6<br />This gene encodes a member of the AAA atpase protein family. The encoded protein plays a role in protein degradation, cell membrane fusion, DNA repair and replication, cell cycle regulation, activation of NF-κB pathway, etc. The protein forms a homohexameric complex, interacts with various cofactors, and extracts ubiquitinated proteins from lipid membranes or protein complexes. In human patients, mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Fibula-Marie-dental disease.