Skip to content
Use your HSA or FSA funds

Gene

TSFM

Ts translation elongation factor, mitochondrial

Summary

Cytogenetic location
12q14.1
Coordinates
Chromosome 12: 57,782,787–57,797,587 (GRCh38)
Exons
6 exons across 14.8 kb
Protein
325 amino acids
Also known as
EF-Tsmt, EF-TS
MANE Select transcript
ENST00000652027.2NM_005726.6
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 moderate

How TSFM is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where TSFM sits. TSFM and 29 genes near it on chromosome 12, from 57,290,187 to 58,290,186.Chromosome 1212q14.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3357.4 Mb57.6 Mb57.8 Mb58 Mb58.2 Mb: 57,249,609–57,296,484, reverse strandR3HDM2: 57,253,762–57,431,051, reverse strandR3HDM2INHBC: 57,434,700–57,452,067, forward strandINHBCINHBE: 57,452,323–57,459,280, forward strandINHBEGLI1: 57,459,783–57,472,268, forward strandGLI1ARHGAP9: 57,472,260–57,488,831, reverse strandMARS1: 57,475,445–57,517,702, forward strandDDIT3: 57,516,584–57,523,630, reverse strandDDIT3: 57,517,712–57,520,480, reverse strandMBD6: 57,520,710–57,530,614, forward strandMBD6DCTN2: 57,529,567–57,547,256, reverse strandDCTN2KIF5A: 57,546,026–57,586,633, forward strandPIP4K2C: 57,591,161–57,603,418, forward strandDTX3: 57,604,484–57,609,804, forward strandDTX3ARHGEF25: 57,610,111–57,617,245, forward strandARHGEF25: 57,615,280–57,626,125, forward strandB4GALNT1: 57,623,409–57,633,242, reverse strandB4GALNT1OS9: 57,693,841–57,728,342, forward strandOS9AGAP2: 57,723,761–57,742,209, reverse strandTSPAN31: 57,738,013–57,751,383, forward strandCDK4: 57,746,043–57,756,013, reverse strandCDK4MARCHF9: 57,754,940–57,760,411, forward strandCYP27B1: 57,762,334–57,768,986, reverse strandMETTL1: 57,768,471–57,772,131, reverse strandEEF1AKMT3: 57,771,492–57,782,544, forward strandEEF1AKMT3: 57,772,660–57,797,554, forward strandTSFM: 57,782,787–57,797,587, forward strandTSFMAVIL: 57,797,376–57,818,734, reverse strandAVILCTDSP2: 57,819,925–57,846,976, reverse strandCTDSP2ATP23: 57,906,039–57,959,148, forward strandATP23Diagram of TSFM: 6 exons on the forward strand of chromosome 12Exon 1: 6 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 18 known disease-causing sitesExon 1: 57,782,787–57,782,858, 72 basesExon 2: 57,783,110–57,783,283, 174 basesExon 3: 57,786,163–57,786,291, 129 basesExon 4: 57,787,040–57,787,162, 123 basesExon 5: 57,792,986–57,793,073, 88 basesExon 6: 57,796,177–57,797,587, 1,411 bases1234565′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 kb of the gene's 14.8 kb; 978 of those bases code for the protein.

How a genome test reads TSFM

55

positions in TSFM 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 14.8 kb of TSFM, introns included, not only the 2 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.). TSFM gene: Ts translation elongation factor, mitochondrial. Retrieved 16 October 2026, from https://dantelabs.com/genes/tsfm

Vancouver

Dante Labs. TSFM gene: Ts translation elongation factor, mitochondrial [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tsfm

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test