Mitofusin 2 (MFN2) Antibody – Rabbit Polyclonal

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, Jul 2008]

MFN2: Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2). CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6); also referred to as autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal CMT associated with optic atrophy. Belongs to the mitofusin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Membrane protein, integral; Membrane protein, multi-pass; Hydrolase; EC 3.6.5.-; Cell cycle regulation; Cytoskeletal

Chromosomal Location of Human Ortholog: 1p36.22

Cellular Component: microtubule cytoskeleton; mitochondrial outer membrane; mitochondrion; integral to membrane; cytosol; intrinsic to mitochondrial outer membrane

Molecular Function: GTPase activity; protein binding; GTP binding; ubiquitin protein ligase binding

Biological Process: camera-type eye morphogenesis; mitochondrial fusion; apoptosis; negative regulation of smooth muscle cell proliferation; mitochondrial membrane organization and biogenesis; autophagy; negative regulation of Ras protein signal transduction; blastocyst formation; mitochondrion localization; blood coagulation; cell cycle arrest; protein targeting to mitochondrion; response to unfolded protein

Disease: Charcot-marie-tooth Disease, Axonal, Type 2a2; Neuropathy, Hereditary Motor And Sensory, Type Vi