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Mitofusin proteins

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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The mitofusins (MFNs) are mitochondrial GTPases that are essential for regulating mitochondrial clustering and fusion [3]. Defects in MFN protein function are associated with mitochondrial diseases.

Enzymes

3131
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mitofusin 1 Show summary »

mitofusin 2 Show summary »


Target Id 3131
Nomenclature mitofusin 2
Genes MFN2 (Hs), Mfn2 (Mm)
Ensembl ID ENSG00000116688 (Hs), ENSMUSG00000029020 (Mm)
UniProtKB AC O95140 (Hs), Q80U63 (Mm)
Activators
compound 13B [PMID: 32506913] pEC50 8.1 [2] - Mouse
Comment MFN1 and MFN2 are mitochondrial membrane proteins that interact with each other to regulate mitochondrial fusion. Serine and threonine residues are phosphorylated by PTEN induced kinase 1 (PINK1) [1]. Activators of MFN2 activity are being developed as experimental probes and potential clinical leads as a mechanism to treat the mitochondrial disease Charcot-Marie-Tooth disease type 2A2B (caused by mutation in MFN2).

References

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How to cite this family page

Database page citation:

Mitofusin proteins. Accessed on 23/07/2021. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=1038.

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Fabbro D, Kelly E, Mathie A, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Pawson AJ, Sharman JL, Southan C, Davies JA; CGTP Collaborators. (2019) The Concise Guide to PHARMACOLOGY 2019/20: Enzymes. Br J Pharmacol. 176 Issue S1: S297-S396.