MTFMT

Chr 15

mitochondrial methionyl-tRNA formyltransferase

Also known as: COXPD15, FMT1, MC1DN27

NCBI Gene: 123263ENSG00000103707UniProt: Q96DP5

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 15
UniProtMitochondrial complex I deficiency, nuclear type 27

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — MTFMT
Authoritative clinical overview · Recommended first read
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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?
1.01LOEUF
pLI 0.000
Z-score 1.53
OE 0.64 (0.42–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.46Z-score
OE missense 1.09 (0.98–1.22)
214 obs / 195.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.64 (0.42–1.01)
0≤0.351.4
Missense OE?1.09 (0.98–1.22)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 14 / 21.7Missense obs/exp: 214 / 195.8Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTFMT · 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