MFN2

MFN2

A gene on chromosome 1p36.22 that encodes mitofusin 2, an essential transmembrane GTPase that mediates mitochondrial fusion, an important step in mitochondria morphology which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton, and plays a central role in mitochondrial metabolism; it may be associated with obesity and/or apoptosis. It plays a key role in regulating vascular smooth muscle cell proliferation.

Molecular pathology
MFN2 defects cause Charcot-Marie-Tooth disease type 2A2 and Charcot-Marie-Tooth type 6.
References in periodicals archive ?
In this study, we explored the potential role of MFN2 in mediating the immune function of T lymphocytes.
3],[4],[5],[6],[7] Recently, abundant evidence has demonstrated that MFN2 also plays a key role in innate immunity against viral infection, not by affecting mitochondrial fusion, but instead by regulating mitochondria-endoplasmic reticulum (ER) contact sites.
Investigaciones en ratones han determinado que deleciones en los genes MFN2 y OPA1 de celulas cardiacas, generan el desarrollo de trastornos cardiacos como la hipertrofia ventricular.
Although the majority of people will have a mutation in one of 4 genes [PMP22, MPZ, GJB1, or MFN2 (mitofusin 2)], it can be difficult determine the genetic cause if the test results for mutations in these genes are negative.
2] Human genes: PMP22, peripheral myelin protein 22; MPZ, myelin protein zero; GJB1, gap junction protein, beta 1, 32kDa; MFN2, mitofusin 2.
Overexpression of MARCH5 in CoS7 cells leads to the formation of elongated mitochondria, which was overcome by coexpressing a dominant negative mutant of MFN2 that lacked the transmembrane domains.
MFN2 is mostly found at mitochondrial-associated ER membrane (MAM).
All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7.
These patients were negative for pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL , and RAB7 .
Both human and mouse cells have two proteins, called MFN1 and MFN2, which control outer membrane fusion.