Analysis of ERLIN2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1888-LGZ)

Introduction

Official Full Name: ER lipid raft associated 2
Also known as: NET32; SPFH2; SPG18; C8orf2; Erlin-2
This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.