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Validated All-in-One™ qPCR Primer for MFN2(NM_014874.3) Search again
Product ID:
HQP117644
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
Gene Description:
mitofusin 2
Target Gene Accession:
NM_014874.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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.
Gene References into function
- Results show that Fzo homologs mitofusin 1 and 2 are ubiquitous mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting.
- Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in apoptotic foci
- Mfn2-dependent mechanism of mitochondrial control is disturbed in obesity by reduced Mfn2 expression
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
- Review. Mitofusin-2 stimulates mitochondrial substrate oxidation, respiration & membrane potential.It may play an important role in energy balance. Its expression is repressed in obese skeletal muscle suggesting a posible role in obesity.
- Mfn2 triggers mitochondrial energization, at least in part, by regulating OXPHOS expression through signals that are independent of its role as a mitochondrial fusion protein
- Mfn2 is a signaling GTPase regulating mitochondrial fusion; the nucleotide-dependent activation of Mfn2 concomitantly protects the organelle from permeability transition
- Mfn1, Mfn2, NRF-2 and COX IV mRNA were increased 24 h post-exercise in skeletal muscle
- Given the frequency of MFN2 mutations among CMT2 probands (3/13, or 23%), genetic testing of CMT2 patients should begin with a screen of the MFN2 gene.
- HSG plays an essential role in mouse preimplantation development
- Type 2 Charcot Marie Tooth Disease is genetically heterogeneous. It may or may not be caused by mutations in the MFN2 gene.
- A study evaluating Mfn2 expression in skeletal muscle from obese or nonobese type 2 diabetic subjects in response to body weight, and the role of TNF-alpha and IL-6 in its regulation is reported.
- the significant increase in mitofusin 2 mRNA levels may explain the increase in glucose oxidation observed in morbid obesity
- This study identified a unique mutation in the gene mitofusin 2 (MFN2). In three families, the MFN2 mutation occurred de novo; in two families the mutation was subsequently transmitted from father to son indicating autosomal dominant inheritance.
- A significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2.
- Charcot-Marie-Tooth disease-associated MFN2 mutant proteins induce abnormal clustering of small fragmented mitochondria in both neuronal cell bodies and proximal axons. Transport of these mitochondria in axons is significantly impaired.
- findings suggest that mutations in the MFN2 gene are an important causative gene underlying Korean patients with Charcot-Marie-Tooth neuropathy type 2
- We also suggest that single patients with early-onset axonal polyneuropathies should be screened for MFN2 mutations.
- a signaling role for Mfn2 in the regulation of apoptosis that extends beyond its role in mitochondrial fusion
- Precise interactions between a few proteins are required for mitochondrial fusion and division. Among them Drp1, Mfn1, Mfn2 and Opal are considered the most important.
- Weight loss upregulates the peroxisome proliferator-activated receptor gamma coactivator gene, which in turn stimulates mitofusin-2 expression, which contributes to the improvement of insulin sensitivity.
- MFN2 gene mutations were shown to be the most common cause of autosomal dominant hereditary axonopathy. In addition, MFN2 gene mutations were also identified in CMT type 6 (axonal neuropathy with optic nerve atrophy).
- study reports a novel MFN2 mutation shared by two apparently unrelated Charcot-Marie-Tooth families originating from the same area in Southern Italy
- observations are in agreement with the neuronal specificity of the disease and are consistent with a recent finding that mitochondrial fusion can be maintained in cells that express mutant Mfn2 protein due to complementation by a second mitofusin, Mfn1.
- Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.
- Severe early-onset axonal neuropathy due to MFN2 mutations can present as an apparently recessively inherited neuropathy but the minimal phenotype in the parents suggests a semi-dominant mechanism.
- mitofusin-2 may have a role in inhibiting the proliferation of MCF-7 cells and promoting their sensitivity to camptothecin with a synergic effect
- early onset stroke without peripheral neuropathy caused by mutation in MFN2
- Cognitive impairment may be another feature of the MFN2-related phenotype. The widespread peripheral and CNS involvement, as well as the neurosensorial defects, underline the similarities among MFN2-related and primary mitochondrial disorders.
- Neurophysiologic findings were most suggestive of axonal degeneration, but some onion bulbs were present in all mitofusin 2 mutations cases. Axonal mitochondria were smaller than normal, were round, and were abnormally aggregated.
- A novel role of PGC-1beta in mitochondrial physiology, namely the control of mitochondrial fusion mainly through Mfn2.
- mitofusin 2 tethers ER to mitochondria, a juxtaposition required for efficient mitochondrial Ca(2+) uptake