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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTX3
metaxin 3
Chromosome 5 · 5q14.1
NCBI Gene: 345778Ensembl: ENSG00000177034.18HGNC: HGNC:24812UniProt: Q5HYI7
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SAM complexMIB complexmitochondrionprotein insertion into mitochondrial outer membraneresponse to stimuluspoisoningadverse effectsmoking initiation
✦AI Summary

MTX3 (metaxin 3) is a mitochondrial outer membrane protein that functions as a component of the mitochondrial intermembrane bridging (MIB) complex, playing a critical role in connecting the mitochondrial outer and inner membranes at cristae junctions 1. MTX3 belongs to the metaxin protein family, which shares conserved glutathione S-transferase domains and transmembrane helices 2. While the broader metaxin family is implicated in protein transport into mitochondria, MTX3's specific mechanism involves linking the MIB-MICOS (mitochondrial contact site and cristae organization system) complex to cytoskeletal motor proteins, particularly Myo19 and its adaptor proteins Miro1/2 1. This connection is essential for maintaining proper mitochondrial cristae architecture and regulating endoplasmic reticulum-mitochondria contact sites. Notably, MTX3 deletion does not directly alter cristae structure or lipid composition, suggesting it primarily serves a bridging/organizational function rather than direct regulation of mitochondrial dynamics 1. The clinical significance of MTX3 dysfunction remains understudied; however, its role in cristae organization implies potential relevance to mitochondrial diseases and cellular bioenergetics.

Sources cited
1
MTX3 is a MIB complex component crucial for connecting MIB-MICOS to Myo19/Miro1/2 proteins and regulating cristae structure and ER-mitochondria contacts
PMID: 39882711
2
MTX3 is a metaxin family member with conserved glutathione S-transferase domain and transmembrane helices; mapped to human chromosome 5q14.1 near THBS4
PMID: 15087125
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
poisoningOpen Targets
0.32Weak
response to stimulusOpen Targets
0.32Weak
adverse effectOpen Targets
0.32Weak
smoking initiationOpen Targets
0.29Weak
heart diseaseOpen Targets
0.23Weak
ovarian neoplasmOpen Targets
0.22Weak
cardiomyopathyOpen Targets
0.20Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.16Weak
Varicose veinsOpen Targets
0.12Weak
post term pregnancyOpen Targets
0.12Weak
lymphatic system diseaseOpen Targets
0.08Suggestive
vein disorderOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
substance abuseOpen Targets
0.07Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
Abnormality of refractionOpen Targets
0.03Suggestive
glaucomaOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
SepsisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOMM20Protein interaction92%TOMM70Protein interaction92%TOMM40Protein interaction92%IMMTProtein interaction92%TOMM7Protein interaction92%CHCHD3Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
99%
Heart
83%
Brain
68%
Liver
48%
Lung
43%
Gene Interaction Network
Click a node to explore
MTX3TOMM20TOMM70TOMM40IMMTTOMM7CHCHD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5HYI7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.57 [0.36–0.95]
RankingsWhere MTX3 stands among ~20K protein-coding genes
  • #13,962of 20,598
    Most Researched21
  • #8,911of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedMTX3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regulation of mitochondrial cristae organization by Myo19, Miro1 and Miro2, and metaxin 3.
PMID: 39882711
J Cell Sci · 2025
1.00
2
The zebrafish metaxin 3 gene (mtx3): cDNA and protein structure, and comparison to zebrafish metaxins 1 and 2.
PMID: 15087125
Gene · 2004
0.90
3
Structure Elucidation and Biological Evaluation of Maitotoxin-3, a Homologue of Gambierone, from
PMID: 30717108
Toxins (Basel) · 2019
0.80
4
In vivo subchronic effects of ciguatoxin-related compounds, reevaluation of their toxicity.
PMID: 35657391
Arch Toxicol · 2022
0.70
5
Safety assessment of intensive induction therapy in childhood anaplastic large cell lymphoma: report of the ALCL99 randomised trial.
PMID: 21280197
Pediatr Blood Cancer · 2011
0.60