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This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Enzymes ENZYME proteins Hydrolases Transporters SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000002 [mitochondrial genome maintenance] GO:0000266 [mitochondrial fission] GO:0000287 [magnesium ion binding] GO:0001843 [neural tube closure] GO:0003924 [GTPase activity] GO:0005515 [protein binding] GO:0005525 [GTP binding] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005741 [mitochondrial outer membrane] GO:0005743 [mitochondrial inner membrane] GO:0005758 [mitochondrial intermembrane space] GO:0006915 [apoptotic process] GO:0007005 [mitochondrion organization] GO:0007007 [inner mitochondrial membrane organization] GO:0007568 [aging] GO:0007601 [visual perception] GO:0008053 [mitochondrial fusion] GO:0008152 [metabolic process] GO:0010636 [positive regulation of mitochondrial fusion] GO:0014042 [positive regulation of neuron maturation] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0019896 [axon transport of mitochondrion] GO:0030061 [mitochondrial crista] GO:0030425 [dendrite] GO:0031314 [extrinsic component of mitochondrial inner membrane] GO:0090201 [negative regulation of release of cytochrome c from mitochondria] GO:0090398 [cellular senescence] GO:1900006 [positive regulation of dendrite development] GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway]
Enzymes ENZYME proteins Hydrolases Transporters SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
