Analysis of MFN2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0079-LGZ)

Introduction

Also known as: HSG; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B
This gene encodes a mitochondrial membrane protein that is involved in mitochondrial fusion and contributes to the maintenance and functioning of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation and may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified.