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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MFF
mitochondrial fission factor
Chromosome 2 Β· 2q36.3
NCBI Gene: 56947Ensembl: ENSG00000168958.21HGNC: HGNC:24858UniProt: A0A0A0MS29
79PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrion organizationprotein bindingidentical protein bindingprotein homodimerization activityLethal encephalopathy due to mitochondrial and peroxisomal fission defectneurodegenerative diseaseencephalopathy due to mitochondrial and peroxisomal fission defectopen-angle glaucoma
✦AI Summary

MFF (mitochondrial fission factor) is a critical regulator of mitochondrial and peroxisomal division that functions as an adaptor protein facilitating DRP1 (dynamin-related protein 1) recruitment to mitochondrial membranes 1. MFF specifically governs midzone mitochondrial fission, a process distinct from peripheral fission, where ER-mediated pre-constriction and actin dynamics initiate division before MFF-dependent DRP1 recruitment drives scission 1. MFF coordinates with other fission machinery including the ER and actin cytoskeleton to define mitochondrial division sites 2. The protein undergoes phosphorylation at Ser172/Ser146 residues to enhance its activity in recruiting DRP1 during fission 3. MFF also participates in mitochondrial-derived vesicle (MDV) biogenesis through MID49/MID51-dependent mechanisms that facilitate DRP1-mediated scission 4. Beyond fission, MFF interacts with CerS6-derived sphingolipids, linking lipid metabolism to mitochondrial fragmentation in obesity 5. Dysregulation of MFF contributes to multiple diseases: excessive MFF-mediated fission accompanies dilated cardiomyopathy through aberrant RAS/RAF1/p44/42 kinase signaling 6, while impaired mitochondrial dynamics involving MFF dysregulation characterizes type 2 diabetes 7. MFF dysfunction is also associated with encephalopathy due to defective mitochondrial and peroxisomal fission. Therapeutic targeting of MFF-regulated fission represents a promising strategy for metabolic and cardiac diseases.

Sources cited
1
MFF governs midzone mitochondrial fission with ER and actin-mediated pre-constriction before DRP1 recruitment
PMID: 33953403
2
ER tubules mediate constriction at mitochondrial division sites before DRP1 recruitment
PMID: 21885730
3
MFF phosphorylation at Ser172/Ser146 enhances DRP1 recruitment to mitochondria during fission
PMID: 36481655
4
MFF-dependent recruitment of DRP1 mediates mitochondrial-derived vesicle biogenesis and quality control
PMID: 34873283
5
CerS6-derived sphingolipids interact with MFF to promote mitochondrial fragmentation in obesity
PMID: 31150623
6
Excessive MFF phosphorylation drives mitochondrial fragmentation in dilated cardiomyopathy through RAS/RAF1/p44/42 signaling
PMID: 40421531
7
MFF dysregulation contributes to impaired mitochondrial dynamics in type 2 diabetes
PMID: 28131082
Disease Associationsβ“˜21
Lethal encephalopathy due to mitochondrial and peroxisomal fission defectOpen Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.44Moderate
encephalopathy due to mitochondrial and peroxisomal fission defectOpen Targets
0.42Moderate
open-angle glaucomaOpen Targets
0.32Weak
corneal ulcerOpen Targets
0.31Weak
exostosisOpen Targets
0.27Weak
mitochondrial encephalomyopathyOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
glaucomaOpen Targets
0.25Weak
corneal diseaseOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Leigh syndromeOpen Targets
0.19Weak
keratitisOpen Targets
0.17Weak
ciliary body disorderOpen Targets
0.17Weak
wet macular degenerationOpen Targets
0.17Weak
macular holesOpen Targets
0.16Weak
Abnormal cornea morphologyOpen Targets
0.14Weak
epithelial basement membrane dystrophyOpen Targets
0.14Weak
scleral disorderOpen Targets
0.14Weak
iris disorderOpen Targets
0.14Weak
Encephalopathy due to defective mitochondrial and peroxisomal fission 2UniProt
Pathogenic Variants14
NM_001277062.2(MFF):c.-40-842G>TLikely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜…β˜†β˜†β˜†2026
NM_001277062.2(MFF):c.440+2432G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001277062.2(MFF):c.-40-842dupLikely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜…β˜†β˜†β˜†2024
NM_001277062.2(MFF):c.-40-841T>GLikely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜…β˜†β˜†β˜†2024
NM_001277062.2(MFF):c.-40-842G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001277062.2(MFF):c.181+1_181+2insAAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCTLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001277062.2(MFF):c.284del (p.Thr95fs)Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜…β˜†β˜†β˜†2018β†’ Residue 95
NM_001277062.2(MFF):c.375_376del (p.Glu127fs)Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜…β˜†β˜†β˜†2018β†’ Residue 127
NM_001277062.2(MFF):c.355C>T (p.Arg119Ter)Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜†β˜†β˜†β˜†2021β†’ Residue 119
NM_001277062.2(MFF):c.739C>T (p.Arg247Ter)Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜†β˜†β˜†β˜†2016β†’ Residue 247
NM_001277062.2(MFF):c.106dup (p.Leu36fs)Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜†β˜†β˜†β˜†2016β†’ Residue 36
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)Pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2|Global developmental delay;Mitochondrial encephalomyopathy
β˜†β˜†β˜†β˜†2014β†’ Residue 38
NM_001277062.2(MFF):c.159del (p.Pro54fs)Likely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜†β˜†β˜†β˜†β†’ Residue 54
NM_001277062.2(MFF):c.352-2A>CLikely pathogenic
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
DENRProtein interaction99%TOMM20Protein interaction99%MFN2Protein interaction99%MARCHF5Protein interaction99%MFN1Protein interaction99%VDAC1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Heart
87%
Ovary
72%
Bone Marrow
68%
Lung
46%
Liver
46%
Gene Interaction Network
Click a node to explore
MFFDENRTOMM20MFN2MARCHF5MFN1VDAC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9GZY8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.65Intermediate
Observed/Expected LoF0.37 [0.23–0.62]
RankingsWhere MFF stands among ~20K protein-coding genes
  • #6,010of 20,598
    Most Researched79
  • #2,513of 5,498
    Most Pathogenic Variants14
  • #4,370of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedMFF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Distinct fission signatures predict mitochondrial degradation or biogenesis.
PMID: 33953403
Nature Β· 2021
1.00
2
Targeting CRL4 suppresses chemoresistant ovarian cancer growth by inducing mitophagy.
PMID: 36481655
Signal Transduct Target Ther Β· 2022
0.90
3
ER tubules mark sites of mitochondrial division.
PMID: 21885730
Science Β· 2011
0.80
4
Mitochondrial dynamics in type 2 diabetes: Pathophysiological implications.
PMID: 28131082
Redox Biol Β· 2017
0.70
5
MIROs and DRP1 drive mitochondrial-derived vesicle biogenesis and promote quality control.
PMID: 34873283
Nat Cell Biol Β· 2021
0.60