MTG1

Chr 10

mitochondrial ribosome associated GTPase 1

Also known as: GTP, GTPBP7

NCBI Gene: 92170ENSG00000148824UniProt: Q9BT17OMIM: 610447

MTG1 encodes a mitochondrial GTPase that regulates mitochondrial ribosome assembly and translational activity within the mitochondrial matrix. Mutations cause mitochondrial disorders affecting the respiratory system, with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.717), consistent with its essential role in mitochondrial protein synthesis.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.72
Clinical Summary— MTG1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.72LOEUF
pLI 0.013
Z-score 2.40
OE 0.36 (0.20–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.52Z-score
OE missense 1.10 (0.99–1.23)
222 obs / 201.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.36 (0.20–0.72)
0≤0.351.4
Missense OE1.10 (0.99–1.23)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 6 / 16.5Missense obs/exp: 222 / 201.1Syn Z: -0.61
DN
0.7035th %ile
GOF
0.5464th %ile
LOF
0.2873th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions.
Boyraz B et al.·Histopathology
2022
Elevated expression of ISY1, APOA-1, SYNE1, MTG1, and MMP10 at HCC initiation: HCC specific protein network involving interactions of key regulators of lipid metabolism, EGFR signaling, MAPK, and splicing pathways.
Shaglouf LHF et al.·Protoplasma
2023
Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion.
Tajiri R et al.·Mod Pathol
2021
MTG1 couples mitoribosome large subunit assembly with intersubunit bridge formation.
Kim HJ et al.·Nucleic Acids Res
2018Open Access
Human G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexes.
Kotani T et al.·Nucleic Acids Res
2013Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients