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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GTPBP8
GTP binding protein 8
Chromosome 3 · 3q13.2
NCBI Gene: 29083Ensembl: ENSG00000163607.19HGNC: HGNC:25007UniProt: Q8N3Z3
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionGTP bindingneurodegenerative diseasedevice complicationalcohol drinkingcorneal neovascularization
✦AI Summary

GTPBP8 (GTP binding protein 8) is a mitochondrial GTPase that serves as a critical regulator of mitochondrial biogenesis and dynamics. Functionally, GTPBP8 acts as the human homolog of bacterial EngB and plays a central role in mitoribosome large subunit assembly 1. The protein functions as an RNA-binding factor that directly interacts with mitochondrial 16S rRNA, facilitating proper maturation of large subunit assembly intermediates 1. Additionally, GTPBP8 modulates mitochondrial fission through a Drp1-dependent mechanism, with depletion causing mitochondrial elongation and interconnectedness, while overexpression promotes fragmentation 2. Mechanistically, GTPBP8 ablation impairs mitochondrial translation and oxidative phosphorylation capacity 1, while GTPBP8 overexpression activates Drp1 recruitment to mitochondria and enhances fission 2. The protein interacts with PGC-1α, a master regulator of mitochondrial biogenesis, linking GTPBP8 to transcriptional control of mitochondrial function 3. Clinically, GTPBP8 deficiency exacerbates nonalcoholic steatohepatitis (NASH) progression, with hepatocyte-specific knockout mice showing accelerated lipid accumulation, inflammation, fibrosis, and reactive oxygen species production 3. GTPBP8 overexpression in hepatocytes attenuates NASH phenotypes by reducing oxidative stress and mitochondrial dysfunction via PGC-1α signaling 3. These findings suggest targeting the GTPBP8/PGC-1α axis represents a potential therapeutic strategy for NASH treatment.

Sources cited
1
GTPBP8 is required for mitoribosome large subunit maturation and binds mitochondrial 16S rRNA; its ablation impairs mitochondrial translation and oxidative phosphorylation
PMID: 38969660
2
GTPBP8 protects against NASH by reducing hepatic oxidative stress and mitochondrial dysfunction through PGC-1α signaling interaction; GTPBP8 deficiency accelerates NASH progression in mice
PMID: 39341301
3
GTPBP8 modulates mitochondrial fission through Drp1-dependent mechanism; depletion causes mitochondrial elongation while overexpression promotes fragmentation and Drp1 recruitment
PMID: 38587461
4
GTPBP8 is the human orthologue of yeast Mrx8 and complements respiratory defects; localizes to mitochondria and plays a universal role in mitochondrial function
PMID: 34432493
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
device complicationOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.05Suggestive
corneal neovascularizationOpen Targets
0.04Suggestive
allergic diseaseOpen Targets
0.02Suggestive
respiratory system diseaseOpen Targets
0.02Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
non-alcoholic steatohepatitisOpen Targets
0.02Suggestive
Eczematoid dermatitisOpen Targets
0.02Suggestive
Abnormal thrombosisOpen Targets
0.02Suggestive
sialolithiasisOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.00Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MALSU1Protein interaction99%DDX28Protein interaction96%MRPL11Protein interaction95%MRM3Protein interaction94%MRPL21Protein interaction92%MRPL17Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
64%
Brain
39%
Ovary
37%
Lung
30%
Liver
28%
Gene Interaction Network
Click a node to explore
GTPBP8MALSU1DDX28MRPL11MRM3MRPL21MRPL17
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N3Z3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.78 [0.42–1.51]
RankingsWhere GTPBP8 stands among ~20K protein-coding genes
  • #13,430of 20,598
    Most Researched23
  • #15,223of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedGTPBP8
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
GTPBP8 plays a role in mitoribosome formation in human mitochondria.
PMID: 38969660
Nat Commun · 2024
1.00
2
GTPBP8 mitigates nonalcoholic steatohepatitis (NASH) by depressing hepatic oxidative stress and mitochondrial dysfunction via PGC-1α signaling.
PMID: 39341301
Free Radic Biol Med · 2025
0.86
3
PMID: 34432493
Mol Biol Cell · 2021
0.71
4
Fine-mapping and genetic analysis of the loci affecting hepatic iron overload in mice.
PMID: 23675470
PLoS One · 2013
0.57
5
Plasma proteomic signatures in HIV-infected individuals post-SARS-CoV-2 infection.
PMID: 41366310
BMC Infect Dis · 2025
0.43