Western blot analysis of MFN2 over-expressed 293 cell line, cotransfected with MFN2 Validated Chimera RNAi ( Cat # H00009927-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with MFN2 monoclonal antibody (M03), clone 4H8 (Cat # H00009927-M03 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it 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. [provided by RefSeq