MFN2(redirected from CPRP1)
MFN2A 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.
MFN2 defects cause Charcot-Marie-Tooth disease type 2A2 and Charcot-Marie-Tooth type 6.