Human mitofusin 2 ELISA Kit | MFN2 elisa kit
Human Mitofusin-2, MFN2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Cell cycle regulation; Cytoskeletal; Membrane protein, integral; Membrane protein, multi-pass; Hydrolase; EC 3.6.5.-; Mitochondrial
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; negative regulation of Ras protein signal transduction; autophagy; 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
Research Articles on MFN2
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Product Notes
The Human MFN2 mfn2 (Catalog #AAA9339897) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9339897 ELISA Kit recognizes Human MFN2. It is sometimes possible for the material contained within the vial of "mitofusin 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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