Family

Mitofusin-2 (IPR027089)

Short name: Mitofusin-2

Family relationships

None.

Description

Mitofusin-2 (MFN2) is an 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 [PMID: 12527753, PMID: 11181170, PMID: 11950885]. MFN2 plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes [PMID: 12598526, PMID: 15322553]. It plays an important role in the regulation of vascular smooth muscle cell proliferation [PMID: 17901359].

Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2). CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system [PMID: 15322553, PMID: 15549395, PMID: 22206013].

GO terms

Biological Process

GO:0008053 mitochondrial fusion
GO:0048662 negative regulation of smooth muscle cell proliferation

Molecular Function

GO:0003924 GTPase activity

Cellular Component

GO:0016021 integral component of membrane
GO:0005739 mitochondrion

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER