Analysis of TOR1AIP2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0714-LGZ)

Introduction

Official Full Name: torsin 1A interacting protein 2<br />Also known as: NET9; LULL1; IFRG15<br />One of two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA and regulates the amount of TorsinA in the endoplasmic reticulum compared to that found in the nuclear membrane. Defects in this protein are responsible for the early onset of primary dystonia, a neuromuscular disorder. Another isoform encoded by this gene is interferon alpha-responsive protein, the cellular role of which has not been determined.