Recombinant Human Mitofusin-2(MFN2), partial

Code CSB-YP013756HU1
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Source Yeast
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Code CSB-EP013756HU1
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Source E.coli
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Code CSB-EP013756HU1-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP013756HU1
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Source Baculovirus
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Code CSB-MP013756HU1
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names MFN2
Uniprot No. O95140
Alternative Names CMT2A; CMT2A2; CPRP 1; CPRP1; EC 3.6.5.-; Fzo; HSG; hyperplasia suppressor gene; Hypertension related protein 1; KIAA0214; MARF; MFN 2; Mfn2; MFN2_HUMAN; Mitochondrial assembly regulatory factor; Mitofusin-2; Mitofusin2; Transmembrane GTPase MFN2
Species Homo sapiens (Human)
Expression Region 93-342aa
Target Protein Sequence ARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSE EKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSW IDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEE VRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQ VRMFEFQNFE
Protein Length partial, Dynamin-type G domain
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

Target Data

Function Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion
Gene References into Functions
  1. The results lead to a revised understanding of Mfn 2 as single-spanning outer membrane proteins with an Nout-Cin orientation, providing functional insight into the IMS contribution to redox-regulated fusion events. PMID: 29212658
  2. Mfn2 protects dopaminergic neurons exposed to paraquat both in vitro and in vivo: Implications for idiopathic Parkinson's disease. PMID: 28215578
  3. this study provides novel insights into the tumor progression associated with MFN2 deficiency and suggests that the importance of mTORC2 inhibitor in the treatment of MFN2 downregulated cancer patients. PMID: 28176801
  4. Collectively, the present study demonstrated mitochondrial fission as a tumor suppression process that is regulated by the HIF/miR125a/Mfn2 pathways, acting to restrict PANC1 cell survival, energy metabolism and migration, with potential implications for novel approaches for PC therapy. PMID: 29749475
  5. a critical role of Mfn2 in CD4(+) T cell apoptosis in sepsis and the underlying mechanism of autophagy deficiency. PMID: 29358849
  6. Loss of Yap reduced SIRT1 expression and inhibited Mfn2-mediated mitophagy. Collectively, our results identified Hippo-Yap as a tumor promoter in gastric cancer that was mediated via activation of the SIRT1/Mfn2/mitophagy axis, with potential applications to gastric cancer therapy involving cancer survival and migration. PMID: 29436693
  7. The overexpression of Mfn2 could trigger cervical tumour apoptosis in vitro and in vivo, which was related to the mitochondrial pathway, and may provide a new treatment target for cervical carcinoma. PMID: 29587277
  8. Data suggest that mitofusin-2 (MFN2) may be involved in cervical cancer pathogenesis as an oncogene and might serve as a biomarker of cervical squamous cell carcinoma (SCC). PMID: 29848692
  9. This study detected a compound heterozygous MFN2 mutation in a patient with a severe phenotype and the co-occurrence of MFN2 and PMP22 mutations in a patient with an uncommon phenotype. PMID: 28660751
  10. The research findings indicate that the inhibition of microRNA-214 promotes the epithelial mesenchymal transition process and contributes to bladder wall fibrosis by up-regulating Mitofusin 2, thus leading to the occurrence of interstitial cystitis in postmenopausal women. PMID: 28729638
  11. report of two patients with pure axonal peripheral neuropathy who are carrying novel compound heterozygous mutations in MFN2 gene PMID: 28215760
  12. The heterozygous mutation c.2251C>T was identified in exon 19 of the MFN2 gene, presumably leading to the truncation of the MFN2 protein (p.Gln751Ter). The mutation co-segregated completely with the disease within the family PMID: 27154191
  13. In this Chinese Han population a novel Charcot-Marie-Tooth disease-associated gene mutations including the MFN2 (c.497C>T) was discovered. PMID: 27862672
  14. Mosaicism and missense mutation in MFN2 lead to severe Charcot-Marie-Tooth disease in a daughter, with minimal clinical features in the father. PMID: 28063088
  15. These findings suggest that specific MFN2 mutations cause tissue-selective mitochondrial dysfunction with increased adipocyte proliferation and survival and confirm a novel form of excess adiposity with paradoxical suppression of leptin expression. PMID: 28414270
  16. This study identified a new mitochondria reprogramming pathway influencing breast cancer progression through SH3GL2 and MFN2. These proteins were frequently lost in breast cancer, which was traceable in the circulating exosomes. PMID: 26888829
  17. MFN2 expression was lower in patients with heart failure with preserved ejection fraction compared to controls. PMID: 27179829
  18. Mitofusin 2 - one of a few proteins involved in a maintenance of an appropriate mitochondrial architecture, and in the consequence in the regulation of mitochondrial metabolism and calcium signalling, the controlling of the mitochondrial DNA level, and the regulation of cell proliferation and differentiation is the focus. [REVIEW] PMID: 28132466
  19. Our patient with MFN2-related CMT2 expands the clinical and mutational spectrum of individuals with autosomal recessive CMT2 and identifies a new clinical feature that warrants further observation. PMID: 26955893
  20. It has been shown that mitofusin-2 is modified with K6-linked polyubiquitin in a HUWE1-dependent manner. PMID: 28943312
  21. Studied association of genetic variants of the MAVS, MITA and MFN2 genes with leprosy in Han Chinese from Southwest China; found no association between the variants and susceptibility to leprosy. PMID: 27553710
  22. MFN2 gene polymorphisms (rs873457, rs2336384, rs1474868, rs4846085 and rs2236055) may be associated with acute liver failure and the rs873457 and rs4846085 polymorphisms are correlated with the risk and prognosis of acute liver failure. PMID: 28513770
  23. SLC25A46 is a new component in mitochondrial dynamics that serves as a regulator for MFN1/2 oligomerization. PMID: 28057766
  24. Presenilin 2 (PS2), mutations in which underlie familial Alzheimer's disease (FAD), promotes endoplasmic reticulum-mitochondria coupling only in the presence of mitofusin 2 (Mfn2). PMID: 27239030
  25. PGC-1alpha enhances Mfn2 transcription, but also leads to increased degradation of the Mfn2 protein, a key ubiquitylation target of Parkin on mitochondria. In vivo, Parkin has significant protective effects on the survival and function of nigral dopaminergic neurons in which the chronic expression of PGC-1alpha is induced PMID: 28053050
  26. Exome sequencing identified MFN2 SNVs in two of the individuals. Neuropathy-associated CNV outside of the PMP22 locus is rare in Charcot-Marie-Tooth (CMT) disease . Nevertheless, there is potential clinical utility in testing for CNVs and exome sequencing in CMT cases negative for the CMT1A duplication. PMID: 26378787
  27. Smad2 is a key scaffold, allowing RIN1 to act as a GTP exchange factor for MFN2-GTPase activation to promote mitochondrial ATP synthesis and suppress superoxide production during mitochondrial fusion. PMID: 27184078
  28. our results suggest that KAP1 Ser473 phosphorylation acts through MFN2 reduction to restrict mitochondrial hyperfusion, thereby contributing to cancer cell survival under conditions of sustained metabolic stress PMID: 27364555
  29. Mfn2 downregulation or the exogenous expression of normal Parkin restored cytosolic Ca(2+) transients in fibroblasts from patients with PARK2 mutations, a catalytically inactive Parkinson's disease (PD)-related Parkin variant had no effect. Parkin is directly involved in regulating ER-mitochondria contacts and provide new insight into the role of the loss of Parkin function in PD development PMID: 27206984
  30. siRNA knockdown of mitofusin-2 (Mfn2), a protein that is involved in the tethering of endoplasmic reticulum and mitochondria, leads to increased contact between the two organelles. PMID: 27203684
  31. Taken together, these data suggest that the striking reduction in mitochondria in MNs expressing mutant MFN2 is not the result of impaired biogenesis, but more likely the consequence of enhanced mitophagy. PMID: 27506976
  32. our findings indicate miR-106a as an important factor to promote hypertrophic progress and suggest miR-106a as a new molecular target for the treatment of pathological hypertrophy. The present study also uncovered a novel relationship between miR-106a and Mfn2, with Mfn2 as a downstream signaling mediator of miR-106a. PMID: 27565029
  33. The results of the present study demonstrated that Resveratrol may protect bronchial epithelial cells from cigarette smoke -induced apoptosis in vitro by preventing mitochondrial dysfunction, and MFN2 may be associated with the anti-apoptotic functions of RSV in HBE cells. PMID: 28406974
  34. Low MFN2 expression in hepatocellular carcinoma indicated a worse overall survival. PMID: 27389277
  35. Low expression of MFN2 is associated with lung adenocarcinoma. PMID: 26733181
  36. Between 1999 and 2012, the genetic diagnosis of MFN2 mutation was made in 11 children who were treated in our department for different neurological symptoms. We found 5 different mutations in the MFN2 gene in 6 unrelated families PMID: 26686600
  37. We report four novel mutations and four rare missense variants of MFN2 in Charcot-Marie-Tooth disease 2A families in mainland China PMID: 26801520
  38. The results of this study suggested that the MFN2 gene should be considered in Polish hereditary motor-sensory neuropathiey II patients. PMID: 26581383
  39. These results suggest that defects in Mfn2 could cause mitochondrial dysfunction and decrease trophoblastic cells' viability PMID: 26942197
  40. This study demonstrated that Mfn2 gene polymorphisms were associated with essential hypertension in northern Han Chinese population, especially in male subjects PMID: 26816493
  41. Report exposes a novel role for Shh in regulating mitochondrial dynamics and rescue the metabolic profile of tumor cells through regulation of mitofusin 1 and 2. PMID: 26446920
  42. family study of early onset severe axonal Charcot-Marie-Tooth disease with dominant inheritance - SNP mutation in MFN2 PMID: 26916081
  43. Our findings provide new insight into the mechanism underlying Mitofusin-2 regulation and the potential role of miR-761 in tocellular carcinoma, making it a potential candidate for use in HCC therapy in the future PMID: 26845057
  44. HMGB1 can trigger apoptosis of T lymphocytes through mitochondrial death pathway associated with [Ca(2+)]i elevation. Mfn2 plays a pivotal role in this process, and it might be a novel therapeutic target in T cell apoptosis related disorders. PMID: 24662494
  45. downregulationof expression is caused by activation of resting peripheral blood T cells PMID: 26566676
  46. Mutations in the gene encoding MFN2 are associated with Charcot-Marie-Tooth disease type 2A and MFN2 is involved in several intracellular pathways that interact to regulate the mitochondrial network within cells. PMID: 26143526
  47. These findings show that homozygous mutations at p.R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis. PMID: 26085578
  48. A deletion of exons 7 and 8 is a founder mutation in MFN2 in the UK population. PMID: 26114802
  49. increased expression of miR-214 observed in a Huntington disease cell model could target MFN2, altered mitochondrial morphology and deregulated cell cycle PMID: 26307536
  50. Mitofusin-2 over-expression leads to dysregulation of cell cycle and cell invasion in lung adenocarcinoma. PMID: 25796500
  51. MFN2 mutations caused about 6% of CMT in Korean families (22.5% of CMT2). Disease phenotypes were considerably varied with 42% severe, 18% moderate and 34% mild cases. PMID: 24863639
  52. findings revealed the role of Mfn2 in regulating cell proliferation and mitochondrial metabolism, and shed new light on understanding the mechanisms of Mfn2 deficiency related diseases. PMID: 25781899
  53. Mfn2 controls cell metabolism and insulin signaling by limiting reactive oxygen species production and by modulation of endoplasmic reticulum stress. [review] PMID: 25567790
  54. The MFN2 gene was the most common cause of CMT2 in a cohort of 38 Italian patients. 11 mutations were identified, 8 of which were novel. PMID: 24819634
  55. a new model for ER-mitochondria juxtaposition in which Mfn2 works as a tethering antagonist preventing an excessive, potentially toxic, proximity between the two organelles. PMID: 25870285
  56. increased expression levels of mitofusin 2 (Mfn2) are markedly induced by oxidative stress in Mild cognitive impairment-derived mitochondria along with aberrant mitochondrial functions. PMID: 25064321
  57. This study demonistrated that the mitofusin 2 R94W mutation knoxk in mouse show histopathology and age-dependent open-field test abnormalities. PMID: 24862862
  58. we confirmed that Mfn2 induced apoptosis in HCC cells by triggering influx of Ca(2+) into the mitochondria from the ER. PMID: 25541060
  59. results suggest that mitofusin-2 protein may affect the synthesis of procollagen of fibroblasts in postmenopausal patients with pelvic organ prolapse (POP); changes in Mfn2 and procollagen expression may play a role in the development of POP PMID: 24361166
  60. atherosclerotic lesions of both mice and human compared with healthy counterparts. Here, we observed that Mfn2 increased cellular cholesterol transporter expression in macrophages by upregulating peroxisome proliferator-activated receptor-gamma. PMID: 24928385
  61. The frequency of the pathogenic mutations in MFN2 gene detected in Czech hereditary motor and sensory neuropathy type II (HMSN II) patients was 7.2%. PMID: 24126688
  62. Frequent loss of heterozygosity in the mitofusin 2 gene exists in hepatocellular carcinoma. Loss of heterozygosity, which represents a tumor suppressor gene pathway, may play a critical role in the occurrence and development of hepatocellular carcinoma. PMID: 24503793
  63. Data provide new insights regarding the role of Mfn2 in controlling cellular proliferation. PMID: 24081906
  64. A novel mutation of the mitofusin 2 gene is found in a family with Charcot-Marie-Tooth disease type 2. PMID: 23929728
  65. Mfn2 regulates metabolism independently of changes in mitochondrial morphology. PMID: 23941871
  66. 5'-UCR -1248 A>G variation of Mfn2/HSG gene is a novel variation associated with hypertension in Chinese. PMID: 23549803
  67. Mitochondrial morphologic functional changes were observed in trophoblasts, and in relation with apoptosis, may be correlated with low levels of Mfn2. Deficient expression of Mfn2 in trophoblastic cells could be an important cause of early miscarriage. PMID: 23601695
  68. Mfn2 affects the proliferation and migration of human breast cancer cells. PMID: 23588792
  69. Downregulation of MFN2 gene expression is associated with colorectal cancer. PMID: 23906296
  70. MITOL regulates ER tethering to mitochondria by activating Mfn2 via K192 ubiquitination. PMID: 23727017
  71. Adequate copper levels are essential for maintaining mitochondrial function and for erythroid differentiation where the energy metabolic switch plus up-regulation of fusion proteins MFN2 and OPA1 define an adaptive response to copper deprivation. PMID: 23831624
  72. MFN2 mutations alter mitochondrial oxidative phosphorylation by affecting mtDNA replication PMID: 22926664
  73. The novel mutation in MFN2 found in this study broadens the genotypic spectrum associated with MFN2 related Charcot-Marie-Tooth disease Type 2A2 PMID: 22762946
  74. A report of a novel double mutation in cis in MFN2 (c.[474+4A>G; 668T>A]) in a Korean family with late-onset autosomal dominant mild axonal Charcot-Marie-Tooth neuropathy. PMID: 22526351
  75. mfn2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology PMID: 22957060
  76. The stability of a nonphosphorylatable mitofusin 2 mutant is unaffected by stress and protective against apoptosis. PMID: 22748923
  77. A French family with Charcot-Marie-Tooth disease is related to simultaneous heterozygous MFN2 and GDAP1 mutations. PMID: 22546700
  78. Five tag-SNPs in MFN2 gene were selected and genotyped in type 2 diabetes in Han Chinese. Two MFN2 SNPs were significantly associated with T2D (P = 0.005 and 0.01) in stage 1 populations, and the association of other SNPs with T2D was not found. PMID: 22778543
  79. Data revealed a missense mutation (NM_014874.3:c.1066 A>G) in the MFN2 gene, resulting in an animo acid substitution of threonine to alanine in condon 356 (Thr356Ala). This is a novel phenotype and mutation for Charcot-Marie-Tooth family. PMID: 22653593
  80. Mfn2 overexpression in tumor cells significantly inhibited cell proliferation, by arresting the transition of the cell cycle from the G(1) to S phase. PMID: 20803103
  81. the mfn2 gene is a potential tumor suppressor target PMID: 21190094
  82. Vpr-mediated cellular damage may occur on an alternative protein transport pathway from the ER, via mitochondria-associated membranes to the mitochondria, which are modulated by Mfn2 and DRP1. PMID: 22438978
  83. Sp1 is a key factor in maintaining basal Mfn2 transcription in vascular smooth muscle cells. PMID: 22253285
  84. Contrary to previous studies in patients with Charcot-Marie-Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a reduction of MFN2 protein expression PMID: 22189565
  85. These results indicate that HBx impacts p53-mediated transcription of Mfn2, providing insight into the negative effect of HBx against p53-dependent chemotherapeutic agents, such as doxorubicin, used in the treatment of hepatocellular carcinoma. PMID: 22510407
  86. This study provided that two distantly related CMT1 patients with early disease onset were found to carry a novel homozygous mutation in MFN2 (p.N131S). PMID: 21892769
  87. This experiments provided evidence that Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. PMID: 22442078
  88. mitochondrial dynamics, particularly those mediated by the mitofusins, play a role in endothelial cell function and viability. PMID: 21839087
  89. This study demonistrated that Novel MFN2 mutation Leu146Phe causes Charcot-Marie-Tooth type 2A2. PMID: 21987543
  90. The results of this study confirmed a MFN2 mutation rate of ~15-20% in CMT2. PMID: 21258814
  91. findings confirm that MFN2 mutations can cause early-onset Charcot-Marie-Tooth disease with apparent recessive inheritance; novel genetic findings include an intragenic MFN2 deletion and nonsense-mediated decay; carrier parents were asymptomatic PMID: 21715711
  92. Here, we aim to show that mitofusin 2 is a protein crucial not only for peripheral nerve disorders but is a one of the common regulator of cell metabolism. [review] PMID: 21913423
  93. Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria. PMID: 21220420
  94. We find MFN2 mutations particularly likely to cause severe neuropathy that may be primarily motor or motor accompanied by prominent proprioception loss in Charcot-Marie-Tooth disease type 2A PMID: 21508331
  95. The impact of mutations in endogenous PINK1 and Parkin on the ubiquitination of mitochondrial fusion and fission factors and the mitochondrial network structure, was investigated. PMID: 21408142
  96. The genetic variations of HSG/Mfn2 may be associated with hypertension in male Chinese PMID: 20940517
  97. LOH at Mfn2 in hepatocellular carcinoma was closely correlated with tumor size, age, capsule, differentiation and HBV infection. PMID: 20936726
  98. HSG exibits multiple anticancer functions in breast cancer cells including inhibition of proliferation and in vitro invasion, G(0)/G(1) arrest and promotion of apoptosis. PMID: 20654126
  99. Ubiquitination of several mitochondrial proteins, including mitofusin 1 and mitofusin 2 were reduced following the silencing of parkin or PINK1. PMID: 20871098
  100. Mitofusin degradation by mitochondria-associated Parkin inhibits the fusion of damaged mitochondria with healthy mitochondria to facilitate the selective elimination of the former by autophagy. PMID: 21173115

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Involvement in disease Charcot-Marie-Tooth disease 2A2B (CMT2A2B); Charcot-Marie-Tooth disease 2A2A (CMT2A2A); Neuropathy, hereditary motor and sensory, 6A (HMSN6A)
Subcellular Location Mitochondrion outer membrane, Multi-pass membrane protein
Protein Families TRAFAC class dynamin-like GTPase superfamily, Dynamin/Fzo/YdjA family, Mitofusin subfamily
Tissue Specificity Ubiquitous; expressed at low level. Highly expressed in heart and kidney.
Database Links

HGNC: 16877

OMIM: 601152

KEGG: hsa:9927

STRING: 9606.ENSP00000235329

UniGene: Hs.376681

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