Mouse Anti-MFN2 Recombinant Antibody (A1079) (CBMAB-AP11846LY)

Mitofusin 2

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]

Mitofusin 2; Transmembrane GTPase MFN2; CPRP1; Mitochondrial Assembly Regulatory Factor; Hyperplasia Suppressor; Mitofusin-2; EC 3.6.5.-; KIAA0214; EC 3.6.5;

SMC-457D

Apoptotic process Source: UniProtKB-KW
Blastocyst formation Source: Ensembl
Camera-type eye morphogenesis Source: Ensembl
Mitochondrial fusion Source: UniProtKB
Mitochondrial membrane organization Source: UniProtKB
Mitochondrion localization Source: UniProtKB
Negative regulation of Ras protein signal transduction Source: UniProtKB
Negative regulation of smooth muscle cell proliferation Source: UniProtKB
Parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization Source: ParkinsonsUK-UCL
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Positive regulation of vascular associated smooth muscle cell apoptotic process Source: BHF-UCL
Positive regulation of vascular associated smooth muscle cell proliferation Source: BHF-UCL
Protein localization to phagophore assembly site Source: MGI
Protein targeting to mitochondrion Source: UniProtKB
Response to unfolded protein Source: UniProtKB-KW

Mitochondrion outer membrane
Note: Colocalizes with BAX during apoptosis.

Charcot-Marie-Tooth disease 2A2B (CMT2A2B):
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2A2B is a severe form with autosomal recessive inheritance.
Charcot-Marie-Tooth disease 2A2A (CMT2A2A):
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A):
An autosomal dominant neurologic disorder characterized by optic atrophy and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities.

Cytoplasmic: 1-604
Helical: 605-625
Mitochondrial intermembrane: 626
Helical: 627-647
Cytoplasmic: 648-757

Phosphorylated by PINK1.
Ubiquitinated by non-degradative ubiquitin by PRKN, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion (PubMed:23620051). Ubiquitinated by HUWE1 when dietary stearate (C18:0) levels are low; ubiquitination inhibits mitochondrial fusion (PubMed:26214738, PubMed:30217973).