Antibody Name:	Anti-Mitofusin 2 Antibody
Antibody SKU:	CAB10175
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-300 of human Mitofusin 2 (NP_001121132.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse
Positive Samples:	SW480, HepG2, 293T, Mouse brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-300 of human Mitofusin 2 (NP_001121132.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MSLL FSRC NSIV TVKK NKRH MAEV NASP LKHF VTAK KKIN GIFE QLGA YIQE SATF LEDT YRNA ELDP VTTE EQVL DVKG YLSK VRGI SEVL ARRH MKVA FFGR TSNG KSTV INAM LWDK VLPS GIGH TTNC FLRV EGTD GHEA FLLT EGSE EKRS AKTV NQLA HALH QDKQ LHAG SLVS VMWP NSKC PLLK DDLV LMDS PGID VTTE LDSW IDKF CLDA DVFV LVAN SEST LMQT EKHF FHKV SERL SRPN IFIL NNRW DASA SEPE YMEE VRRQ HMER CTSF LVDE LGVV DRSQ AGDR
Gene ID:	9927
Uniprot:	O95140
Cellular Location:	Mitochondrion outer membrane, Multi-pass membrane protein
Calculated MW:	50kDa/86kDa
Observed MW:	86kDa

Synonyms:

CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MFN2, Mitofusin 2

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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Cell cycle regulation; Cytoskeletal; EC 3.6.5.-; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial Chromosomal Location of Human Ortholog: 1p36.22 Cellular Component: cytosol; integral to membrane; intrinsic to mitochondrial outer membrane; mitochondrial outer membrane; mitochondrion Molecular Function:GTPase activity; 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, Autosomal Recessive, Type 2a2b; Charcot-marie-tooth Disease, Axonal, Type 2a2; Neuropathy, Hereditary Motor And Sensory, Type Vi
NCBI 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. [provided by RefSeq, Jul 2008]
UniProt Code:	O95140
NCBI GenInfo Identifier:	47605777
NCBI Gene ID:	9927
NCBI Accession:	O95140.3
UniProt Secondary Accession:	O95140,O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8, A8K1B3
UniProt Related Accession:	O95140
Molecular Weight:	86kDa
NCBI Full Name:	Mitofusin-2
NCBI Synonym Full Names:	mitofusin 2
NCBI Official Symbol:	MFN2
NCBI Official Synonym Symbols:	HSG; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B
NCBI Protein Information:	mitofusin-2
UniProt Protein Name:	Mitofusin-2
UniProt Synonym Protein Names:	Transmembrane GTPase MFN2
Protein Family:	Mitofusin
UniProt Gene Name:	MFN2