Recombinant Human Mitofusin-2 (MFN2)

Uniprot Id

O95140

Target Species

Human

Target Name

MFN2

Target Full Name

Mitofusin-2

Target Function

Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion. Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events. Overexpression induces the formation of mitochondrial networks. Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Plays an important role in the regulation of vascular smooth muscle cell proliferation. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). Is required for PRKN recruitment to dysfunctional mitochondria. Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress. Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions.

Target Involvement

Charcot-Marie-Tooth disease 2A2B (CMT2A2B); Charcot-Marie-Tooth disease 2A2A (CMT2A2A); Neuropathy, hereditary motor and sensory, 6A (HMSN6A)

Target Subcellular Location

Mitochondrion outer membrane; Multi-pass membrane protein.

Target Protein Families

TRAFAC class dynamin-like GTPase superfamily, Dynamin/Fzo/YdjA family, Mitofusin subfamily

Target Tissue Specificity

Ubiquitous; expressed at low level. Highly expressed in heart and kidney.

Target Research Area

Cancer

Target Synonyms

MFN2; CPRP1; KIAA0214; Mitofusin-2; Transmembrane GTPase MFN2

Target 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.