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Gene

MTFMT

mitochondrial methionyl-tRNA formyltransferase

Summary

Cytogenetic location
15q22.31
Coordinates
Chromosome 15: 65,001,512–65,029,639 (GRCh38)
Exons
9 exons across 28.1 kb
Protein
389 amino acids
Also known as
FMT1
MANE Select transcript
ENST00000220058.9NM_139242.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Primary Mitochondrial Disease

    • Combined Oxidative Phosphorylation Deficiency

      Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can end a diagnostic search and guide surveillance and supportive care.

Broader groupings

  • Leigh Syndrome

    • One of 69 genes linked to it

      A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

How MTFMT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where MTFMT sits. MTFMT and 19 genes near it on chromosome 15, from 64,515,576 to 65,515,575.Chromosome 1515q22.31p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.364.6 Mb64.8 Mb65 Mb65.2 Mb65.4 MbZNF609: 64,460,549–64,686,068, forward strandZNF609OAZ2: 64,686,833–64,703,281, reverse strandOAZ2RBPMS2: 64,739,886–64,775,860, reverse strandRBPMS2PIF1: 64,815,629–64,825,677, reverse strandPIF1PLEKHO2: 64,839,231–64,868,002, forward strandPLEKHO2: 64,841,883–64,930,920, forward strandANKDD1A: 64,911,853–64,979,845, forward strandANKDD1ASPG21: 64,954,566–64,990,312, reverse strandSPG21MTFMT: 65,001,512–65,029,639, reverse strandMTFMTSLC51B: 65,045,132–65,053,397, forward strandSLC51BRASL12: 65,053,337–65,076,690, reverse strandRASL12KBTBD13: 65,076,746–65,079,948, forward strandKBTBD13UBAP1L: 65,091,766–65,115,200, reverse strandUBAP1LPDCD7: 65,117,379–65,133,836, reverse strandPDCD7CLPX: 65,148,219–65,185,643, reverse strandCLPXCILP: 65,194,760–65,211,491, reverse strandCILPPARP16: 65,231,398–65,300,618, reverse strandPARP16IGDCC3: 65,327,127–65,378,087, reverse strandIGDCC3IGDCC4: 65,381,479–65,423,083, reverse strandIGDCC4DPP8: 65,442,463–65,517,757, reverse strandDPP8Diagram of MTFMT: 9 exons on the reverse strand of chromosome 15Exon 9: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 4 known disease-causing sitesExon 1: 1 known disease-causing siteExon 9: 65,001,512–65,003,256, 1,745 basesExon 8: 65,004,854–65,004,936, 83 basesExon 7: 65,006,113–65,006,191, 79 basesExon 6: 65,016,436–65,016,527, 92 basesExon 5: 65,020,197–65,020,272, 76 basesExon 4: 65,021,514–65,021,616, 103 basesExon 3: 65,023,672–65,023,794, 123 basesExon 2: 65,026,831–65,027,040, 210 basesExon 1: 65,029,405–65,029,639, 235 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.7 kb of the gene's 28.1 kb; 1,170 of those bases code for the protein.

How a genome test reads MTFMT

14

positions in MTFMT where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 28.1 kb of MTFMT, introns included, not only the 2.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MTFMT gene: mitochondrial methionyl-tRNA formyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/mtfmt

Vancouver

Dante Labs. MTFMT gene: mitochondrial methionyl-tRNA formyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mtfmt

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