MTG1

Chr 10

mitochondrial ribosome associated GTPase 1

Also known as: GTP, GTPBP7

NCBI Gene: 92170ENSG00000148824UniProt: Q9BT17

Enables GTPase activity. Involved in mitochondrial large ribosomal subunit assembly; regulation of mitochondrial translation; and regulation of respiratory system process. Located in mitochondrial inner membrane and mitochondrial ribosome. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.36 (0.20–0.72)
0≤0.351.4
Missense OE?1.10 (0.99–1.23)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 6 / 16.5Missense obs/exp: 222 / 201.1Syn Z: -0.61

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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