MTRES1

Chr 6

mitochondrial transcription rescue factor 1

Also known as: C6orf203, HSPC230, PRED31

NCBI Gene: 51250ENSG00000130349UniProt: Q9P0P8OMIM: 618583

Enables ribosomal large subunit binding activity and tRNA binding activity. Involved in regulation of mitochondrial transcription and rescue of stalled ribosome. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.001
Z-score 1.19
OE 0.60 (0.33–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.17Z-score
OE missense 1.04 (0.91–1.20)
137 obs / 131.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.60 (0.33–1.18)
0≤0.351.4
Missense OE?1.04 (0.91–1.20)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 6 / 10.1Missense obs/exp: 137 / 131.6Syn Z: 0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTRES1 · 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