Effects of MFN2 mutation (WP5443)
Homo sapiens
Mutation in mitofusin-2 (MFN2) and all the proteins that are consequently changed.
Authors
JordyG02 and Eric WeitzActivity
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Cited In
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
altered cellular autophagy apoptotic cell death pathway altered transport pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| Phospholipase D | Metabolite | wikidata:Q700007 | |
| ATP | Metabolite | chebi:30616 | |
| Na+ | Metabolite | chebi:29101 | |
| Ca2+ | Metabolite | chebi:29108 | |
| Cardiolipins | Metabolite | chebi:28494 | |
| Phosphatidic acids | Metabolite | chebi:16337 | |
| TRAK1 | GeneProduct | ensembl:ENSG00000182606 | |
| DYNC1H1 | GeneProduct | ensembl:ENSG00000197102 | |
| RAB3B | GeneProduct | ensembl:ENSG00000169213 | |
| RAB3A | GeneProduct | ensembl:ENSG00000105649 | |
| BAX | GeneProduct | ensembl:ENSG00000087088 | |
| DYNC1I1 | GeneProduct | ensembl:ENSG00000158560 | |
| RABAC1 | GeneProduct | ensembl:ENSG00000105404 | |
| KIF1B | GeneProduct | ensembl:ENSG00000054523 | |
| CASP8 | GeneProduct | ensembl:ENSG00000064012 | |
| SNCA | GeneProduct | ensembl:ENSG00000145335 | |
| DYNC1LI2 | GeneProduct | ensembl:ENSG00000135720 | |
| ATAT1 | GeneProduct | ensembl:ENSG00000137343 | |
| RAB7A | GeneProduct | ensembl:ENSG00000075785 | |
| SYPL1 | GeneProduct | ensembl:ENSG00000008282 | |
| DYNC2H1 | GeneProduct | ensembl:ENSG00000187240 | |
| CASP3 | GeneProduct | ensembl:ENSG00000164305 | |
| DYNC2I1 | GeneProduct | ensembl:ENSG00000126870 | |
| RHOT1 | GeneProduct | ensembl:ENSG00000126858 | |
| MFN2 | GeneProduct | ensembl:ENSG00000116688 | |
| DYNC2I2 | GeneProduct | ensembl:ENSG00000119333 | |
| TUBB3 | GeneProduct | ensembl:ENSG00000258947 | |
| MAP2 | GeneProduct | ensembl:ENSG00000078018 | |
| TP53 | GeneProduct | ensembl:ENSG00000141510 | |
| DCTN1 | GeneProduct | ensembl:ENSG00000204843 |
References
- Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. J Neurosci. 2007 Jan 10;27(2):422–30. PubMed Europe PMC Scholia
- Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH. J Neurosci. 2010 Mar 24;30(12):4232–40. PubMed Europe PMC Scholia
- Axon degeneration: molecular mechanisms of a self-destruction pathway. Wang JT, Medress ZA, Barres BA. J Cell Biol. 2012 Jan 9;196(1):7–18. PubMed Europe PMC Scholia
- Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. Misko AL, Sasaki Y, Tuck E, Milbrandt J, Baloh RH. J Neurosci. 2012 Mar 21;32(12):4145–55. PubMed Europe PMC Scholia
- Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons. Rizzo F, Ronchi D, Salani S, Nizzardo M, Fortunato F, Bordoni A, et al. Hum Mol Genet. 2016 Oct 1;25(19):4266–81. PubMed Europe PMC Scholia
- Mfn2 is Required for Mitochondrial Development and Synapse Formation in Human Induced Pluripotent Stem Cells/hiPSC Derived Cortical Neurons. Fang D, Yan S, Yu Q, Chen D, Yan SS. Sci Rep. 2016 Aug 18;6:31462. PubMed Europe PMC Scholia
- Structure, function, and regulation of mitofusin-2 in health and disease. Chandhok G, Lazarou M, Neumann B. Biol Rev Camb Philos Soc. 2018 May;93(2):933–49. PubMed Europe PMC Scholia
- The Interface Between ER and Mitochondria: Molecular Compositions and Functions. Lee S, Min KT. Mol Cells. 2018 Dec 31;41(12):1000–7. PubMed Europe PMC Scholia
- MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, et al. Hum Mol Genet. 2019 Jun 1;28(11):1782–800. PubMed Europe PMC Scholia
- MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons. Mou Y, Dein J, Chen Z, Jagdale M, Li XJ. Front Mol Neurosci. 2021 Sep 16;14:727552. PubMed Europe PMC Scholia
- MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A. Kumar A, Larrea D, Pero ME, Infante P, Conenna M, Shin GJE, et al. bioRxiv. 2023 Mar 16;2023.03.15.532838. PubMed Europe PMC Scholia