Mitofusin proteins

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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

3130

mitofusin 1 Show summary »« Hide summary

Target Id	3130
Nomenclature	mitofusin 1
Genes	MFN1 (Hs)
Ensembl ID	ENSG00000171109 (Hs)
UniProtKB AC	Q8IWA4 (Hs)
Comment	MFN1 and MFN2 are mitochondrial membrane proteins that interact with each other to regulate mitochondrial fusion.

mitofusin 2 Show summary »« Hide 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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1. Chen Y, Dorn 2nd GW. (2013) PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria. Science, 340 (6131): 471-5. [PMID:23620051]

2. Dang X, Zhang L, Franco A, Li J, Rocha AG, Devanathan S, Dolle RE, Bernstein PR, Dorn 2nd GW. (2020) Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases. J Med Chem, 63 (13): 7033-7051. [PMID:32506913]

3. Santel A, Fuller MT. (2001) Control of mitochondrial morphology by a human mitofusin. J Cell Sci, 114 (Pt 5): 867-74. [PMID:11181170]

How to cite this family page

Database page citation:

Mitofusin proteins. Accessed on 18/04/2024. 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 AA, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Davies JA et al. (2023) The Concise Guide to PHARMACOLOGY 2023/24: Enzymes. Br J Pharmacol. 180 Suppl 2:S289-373.