MFN2
Encyclopedia
Mitofusin-2 is a protein
that in humans is encoded by the MFN2 gene
.
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.
. Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by a mutation in the MFN2 gene. The mutations affect the transport function of mitochondria in the nerve's axon. While the symptoms of CMT2A are variable they are characterized by a sometimes early onset, severe phenotype, and optic atrophy.
The MFN2 protein may play a role in the pathophysiology of obesity.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the MFN2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
Mitofusin-2 is a mitochondrialMitochondrion
In cell biology, a mitochondrion is a membrane-enclosed organelle found in most eukaryotic cells. These organelles range from 0.5 to 1.0 micrometers in diameter...
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.
Clinical significance
Mutations of the gene are implicated in Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease
Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
. Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by a mutation in the MFN2 gene. The mutations affect the transport function of mitochondria in the nerve's axon. While the symptoms of CMT2A are variable they are characterized by a sometimes early onset, severe phenotype, and optic atrophy.
The MFN2 protein may play a role in the pathophysiology of obesity.