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 ?
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.
Both human and mouse cells have two proteins, called MFN1 and MFN2, which control outer membrane fusion.
MFN1 and MFN2 are found in different amounts in different body organs.