MFN2
Sign in to saveAlso known as CMT2A, CMT2A2, CPRP1, HSG, MARF, HMSN6A, mitofusin 2, CMT2A2A
Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene. Mitofusins are GTPases embedded in the outer membrane of the mitochondria. In mammals MFN1 and MFN2 are essential for mitochondrial fusion. In addition to the mitofusins, OPA1 regulates inner mitochondrial membrane fusion, and DRP1 is responsible for mitochondrial fission.
Gene data
MFN2- Name
- mitofusin 2
- Type
- protein-coding
- Aliases
- CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
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].
via MyGene.info
Gene · Ensembl
mitofusin 2
- Symbol
- MFN2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:11,980,181-12,015,211
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Ideogram human chromosome 1.svg
Show 5 more facts
- HomoloGene ID
- 8915
- exact match
- identifiers.org/ncbigene/9927
- genomic end
- 12015211
- genomic start
- 12040238
- cytogenetic location
- 1p36.22
Sources (8)
via Wikidata · CC0
~12 min read
Article
15 sectionsContents
- Structure
- Function
- Mitochondrial fusion and fission
- ER-mitochondria contacts
- Axonal transport of mitochondria
- Clinical significance
- Charcot–Marie–Tooth disease type 2A (CMT2A)
- Alzheimer's disease
- Parkinson's disease
- Obesity/diabetes/insulin resistance
- Cardiomyopathies
- Cancer
- References
- Further reading
- External links
Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene. Mitofusins are GTPases embedded in the outer membrane of the mitochondria. In mammals MFN1 and MFN2 are essential for mitochondrial fusion. In addition to the mitofusins, OPA1 regulates inner mitochondrial membrane fusion, and DRP1 is responsible for mitochondrial fission.
Mitofusin-2 (MFN2) is a mitochondrial membrane protein that plays a central role in regulating mitochondrial fusion and cell metabolism. More specifically, MFN2 is a dynamin-like GTPase embedded in the outer mitochondrial membrane (OMM) which in turn affects mitochondrial dynamics, distribution, quality control, and function.