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].
Subunit:
Forms homomultimers and heteromultimers with MFN1.
Subcellular Location:
Mitochondrion outer membrane; Multi-pass membrane protein.
Tissue Specificity:
Ubiquitous; expressed at low level. Highly expressed in heart and kidney.
DISEASE:
Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]. 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) [MIM:601152]; 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.
Similarity:
Belongs to the mitofusin family.
SWISS:
O95140
Gene ID:
9927
Database links:
Entrez Gene: 9927 Human
Entrez Gene: 170731 Mouse
Entrez Gene: 64476 Rat
Omim: 608507 Human
SwissProt: O95140 Human
SwissProt: Q80U63 Mouse
SwissProt: Q8R500 Rat
Unigene: 376681 Human
Unigene: 154312 Mouse
Unigene: 437499 Mouse
Unigene: 8570 Rat
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Sample:
Lane 1: Mouse Muscle tissue lysates
Lane 2: Mouse Cerebrum tissue lysates
Lane 3: Rat Muscle tissue lysates
Lane 4: Rat Cerebrum tissue lysates
Primary: Anti- Mitofusin 2 (SL2988R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 83 kD
Observed band size: 77 kD
Sample:
Cerebrum (Mouse) Lysate at 40 ug
Primary: Anti-Mitofusin 2 (SL2988R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 83 kD
Observed band size: 68 kD
Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Mitofusin 2) Polyclonal Antibody, Unconjugated (SL2988R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Tissue/cell: human breast cancer; 4% Paraformaldehyde-fixed and paraffin-embedded;
Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,SLC0005) at 37℃ for 20 min;
Incubation: Anti-Mitofusin 2 Polyclonal Antibody, Unconjugated(SL2988R) 1:200, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(SLC0010) staining
Tissue/cell: human kidney tissue;4% Paraformaldehyde-fixed and paraffin-embedded;
Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Blocking buffer (normal goat serum,SLC0005) at 37℃ for 20 min;
Incubation: Anti-Mitofusin-2 Polyclonal Antibody, Unconjugated(SL2988R) 1:200, overnight at 4°C; The secondary antibody was Goat Anti-Rabbit IgG, FITC conjugated(SL0295G-FITC)used at 1:200 dilution for 40 minutes at 37°C.
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