HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MTX1
metaxin 1
Chromosome 1 · 1q22
NCBI Gene: 4580Ensembl: ENSG00000173171.15HGNC: HGNC:7504UniProt: Q13505
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionSAM complexMIB complexgastric carcinomaneurodegenerative diseasegastric cancergout
✦AI Summary

MTX1 (metaxin 1) encodes a mitochondrial outer membrane protein essential for mitochondrial protein import and cellular function 1. The protein contains 317 amino acids, lacks an N-terminal signal sequence, but possesses a putative transmembrane domain near its C-terminus, consistent with its mitochondrial localization 1. MTX1 is involved in protein transport into mitochondria and is essential for embryonic development 1. The gene exhibits a unique genomic organization, sharing a common promoter region with the thrombospondin 3 (THBS3) gene and being transcribed convergently 21. Functionally, MTX1 promotes autophagy through interaction with CDGSH iron sulfur domain 1 (CISD1), an autophagy negative regulator 3. Clinically, MTX1 overexpression is associated with hepatocellular carcinoma progression and sorafenib resistance, with high expression correlating with poor outcomes in HCC patients receiving sorafenib treatment 3. Additionally, specific MTX1 variants may modify disease onset in GBA-associated Parkinson's disease, with the homozygous c.184A/A genotype associated with earlier symptom onset 4. Recent studies also implicate MTX1 in idiopathic pulmonary fibrosis pathogenesis 5.

Sources cited
1
MTX1 protein structure, mitochondrial localization, and genomic organization
PMID: 8660965
2
MTX1 shares promoter region with THBS3 gene
PMID: 7558000
3
MTX1 promotes autophagy via CISD1 interaction and contributes to sorafenib resistance in HCC
PMID: 34421355
4
MTX1 variants modify age of onset in GBA-associated Parkinson's disease
PMID: 21837367
5
MTX1 association with idiopathic pulmonary fibrosis
PMID: 39952317
Disease Associationsⓘ20
gastric carcinomaOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
gastric cancerOpen Targets
0.38Weak
goutOpen Targets
0.37Weak
polyp of large intestineOpen Targets
0.29Weak
risk-taking behaviourOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.24Weak
Abnormality of metabolism/homeostasisOpen Targets
0.21Weak
HyponatremiaOpen Targets
0.17Weak
Gastric Papillary AdenocarcinomaOpen Targets
0.16Weak
COVID-19Open Targets
0.15Weak
stomach neoplasmOpen Targets
0.14Weak
inflammatory bowel diseaseOpen Targets
0.14Weak
Crohn's diseaseOpen Targets
0.13Weak
response to COVID-19 vaccineOpen Targets
0.13Weak
Gaucher disease type 1Open Targets
0.12Weak
Gaucher disease type IOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOMM70Protein interaction100%TOMM7Protein interaction100%TOMM20Protein interaction100%TOMM40Protein interaction100%TOMM40LProtein interaction99%IMMTProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
94%
Lung
93%
Liver
87%
Ovary
68%
Heart
35%
Gene Interaction Network
Click a node to explore
MTX1TOMM70TOMM7TOMM20TOMM40TOMM40LIMMT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13505
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.43–0.90]
RankingsWhere MTX1 stands among ~20K protein-coding genes
  • #6,998of 20,598
    Most Researched67
  • #8,107of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedMTX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell and genome-wide Mendelian randomization identifies causative genes for gout.
PMID: 38831441
Arthritis Res Ther · 2024
1.00
2
Binding of muscarinic toxins MTx1 and MTx2 from the venom of the green mamba Dendroaspis angusticeps to cloned human muscarinic cholinoceptors.
PMID: 7778123
Toxicon · 1995
0.90
3
Structure and organization of the human thrombospondin 3 gene (THBS3).
PMID: 7558000
Genomics · 1995
0.80
4
Genome-scale CRISPRa screening identifies MTX1 as a contributor for sorafenib resistance in hepatocellular carcinoma by augmenting autophagy.
PMID: 34421355
Int J Biol Sci · 2021
0.70
5
Structure and organization of the human metaxin gene (MTX) and pseudogene.
PMID: 8660965
Genomics · 1996
0.60