DISEASES

Disease-gene associations mined from literature

Literature associating MFN1 and Charcot-Marie-Tooth disease type 4E

MFN1 [ENSP00000420617]

Mitofusin-1; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity . It may involve a major rearrangement of the coiled coil domains . Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events . Overexpression induces the formation of mitochondrial networks (in vitro) . Has low GTPase activity .

Synonyms:  MFN1,  MFN1p,  hMFN1,  C9JQT7,  C9JXQ1 ...

Linkouts:  STRING  Pharos  UniProt