Symbol: Name: ID: |
MFN2 mitofusin 2 GFS:5963 |
Gene name: | MFN2 |
Chromosome: | 1p36.22 |
Previous Symbols: | |
Previous Names: | |
Aliases: | CPRP1, KIAA0214, MARF |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2442230 | Rat Genome Database ID: | RGD:628843 |
HGNC ID: | HGNC:16877 | RefSeq IDs: | NM_001127660 |
Entrez Gene ID: | 9927 | Ensembl Gene ID: | ENSG00000116688 |
VEGA IDs: | OTTHUMG00000002392 | UniProt ID: | O95140 |
UCSC ID: | uc009vni.2 | OMIM ID: | 608507 |
Pubmed: | PMID12499352 PMID 11181170 | ||
CCDS IDs: | CCDSCCDS30587.1 |
Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene.
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].
Function: 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.
Products for MFN2 gene
Catalog | Product Name | Application | Company |
GFS:E05963 | mitofusin 2; ELISA kit | ELISA | n/a |
GFS:A05963 | mitofusin 2; Anti | ANTIBODIES | n/a |
GFS:P05963 | mitofusin 2; Protien | Protien | n/a |