Molecular weight (DA)
86kD
Immunogen
The antiserum was produced against synthesized peptide derived from human Mfn2. AA range:354-403
Specificity
Mfn2 Polyclonal Antibody detects endogenous levels of Mfn2 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. IHC-p: 1:100-300 ELISA: 1/20000. IF 1:100-300 Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
catalytic activity:GTP + H(2)O = GDP + phosphate.,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.,disease: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 n
Other name
MFN2; CPRP1; KIAA0214; Mitofusin-2; Transmembrane GTPase MFN2
Fields
>>Mitophagy - animal;>>NOD-like receptor signaling pathway;>>Parkinson disease;>>Pathways of neurodegeneration - multiple diseases
Human protein sequence Database
O95140
Mouse protein sequence database
Q80U63
Rat protein sequence database
Q8R500
Cellular localization
Mitochondrion outer membrane ; Multi-pass membrane protein . Colocalizes with BAX during apoptosis. .
Tissue expression
Ubiquitous; expressed at low level. Highly expressed in heart and kidney.
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