MFN2 cdna clone
MFN2 cDNA Clone
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: Membrane protein, integral; EC 3.6.5.-; Mitochondrial; Cytoskeletal; Hydrolase; Membrane protein, multi-pass; Cell cycle regulation
Chromosomal Location of Human Ortholog: 1p36.22
Cellular Component: cytosol; intrinsic to mitochondrial outer membrane; mitochondrial outer membrane; mitochondrion
Molecular Function: protein binding; ubiquitin protein ligase binding
Biological Process: blood coagulation; cell cycle arrest; macroautophagy; mitochondrial fusion; mitochondrial membrane organization and biogenesis; mitochondrion localization; negative regulation of Ras protein signal transduction; negative regulation of smooth muscle cell proliferation; protein targeting to mitochondrion
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 MFN2 mfn2 (Catalog #AAA1267510) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgtccctgc tcttctctcg atgcaactct atcgtcacag tcaagaaaaa taagagacac atggctgagg tgaatgcatc cccacttaag cactttgtca ctgccaagaa gaagatcaat ggcatttttg agcagctggg ggcctacatc caggagagcg ccaccttcct tgaagacacg tacaggaatg cagaactgga ccccgttacc acagaagaac aggttctgga cgtcaaaggt tacctatcca aagtgagagg catcagtgag gtgctggctc ggaggcacat gaaagtggct ttttttggcc ggacgagcaa tgggaagagc accgtgatca atgccatgct ctgggacaaa gttctgccct ctgggattgg ccacaccacc aattgcttcc tgcgggtaga gggcacagat ggccatgagg cctttctcct taccgagggc tcagaggaaa agaggagtgc caagactgtg aaccagctgg cccatgccct ccaccaggac aagcagctcc atgccggcag cctagtgagt gtgatgtggc ccaactctaa gtgcccactt ctgaaggatg acctcgtttt gatggacagc cctggtattg atgtcaccac agagctggac agctggattg acaagttttg tctggatgct gatgtgtttg tgctggtggc caactcagag tccaccctga tgcagacgga aaagcacttc ttccacaagg tgagtgagcg tctctcccgg ccaaacatct tcatcctgaa caaccgctgg gatgcatctg cctcagagcc cgagtacatg gaggaggtgc ggcggcagca catggagcgt tgtaccagct tcctggtgga tgagctgggc gtggtggatc gatcccaggc cggggaccgc atcttctttg tgtctgctaa ggaggtgctc aacgccagga ttcagaaagc ccagggcatg cctgaaggag ggggcgctct cgcagaaggc tttcaagtga ggatgtttga gtttcagaat tttgagagga gatttgagga gtgcatctcc cagtctgcag tgaagaccaa gtttgagcag cacacggtcc gggccaagca gattgcagag gcggttcgac tcatcatgga ctccctgcac atggcggctc gggagcagca ggtttactgc gaggaaatgc gtgaagagcg gcaagaccga ctgaaattta ttgacaaaca gctggagctc ttggctcaag actataagct gcgaattaag cagattacgg aggaagtgga gaggcaggtg tcgactgcaa tggccgagga gatcaggcgc ctctctgtac tggtggacga ttaccagatg gacttccacc cttctccagt agtcctcaag gtttataaga atgagctgca ccgccacata gaggaaggac tgggtcgaaa catgtctgac cgctgctcca cggccatcac caactccctg cagaccatgc agcaggacat gatagatggc ttgaaacccc tccttcctgt gtctgtgcgg agtcagatag acatgctggt cccacgccag tgcttctccc tcaactatga cctaaactgt gacaagctgt gtgctgactt ccaggaagac attgagttcc atttctctct cggatggacc atgctggtga ataggttcct gggccccaag aacagccgtc gggccttgat gggctacaat gaccaggtcc agcgtcccat ccctctgacg ccagccaacc ccagcatgcc cccactgcca cagggctcgc tcacccagga ggagttcatg gtttccatgg ttaccggcct ggcctccttg acatccagga cctccatggg cattcttgtt gttggaggag tggtgtggaa ggcagtgggc tggcggctca ttgccctctc ctttgggctc tatggcctcc tctacgtcta tgagcgtctg acctggacca ccaaggccaa ggagagggcc ttcaagcgcc agtttgtgga gcatgccagc gagaagctgc agcttgtcat cagctacact ggctccaact gcagccacca agtccagcag gaactgtctg ggacctttgc tcatctgtgt cagcaagttg acgtcacccg ggagaacctg gagcaggaaa ttgccgccat gaacaagaaa attgaggttc ttgactcact tcagagcaaa gcaaagctgc tcaggaataa agccggttgg ttggacagtg agctcaacat gttcacacac cagtacctgc agcccagcag atag. It is sometimes possible for the material contained within the vial of "MFN2, cDNA Clone" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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