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Gene

MTRFR

mitochondrial translation release factor in rescue

Summary

Cytogenetic location
12q24.31
Coordinates
Chromosome 12: 123,233,436–123,257,960 (GRCh38)
Exons
3 exons across 24.5 kb
Protein
166 amino acids
Also known as
FLJ38663, SPG55, COXPD7, mtRF-R
Previous symbols
C12orf65
MANE Select transcript
ENST00000253233.6NM_152269.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

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.

      • 2 GenCC submitters rate it definitive or strong
      Actionability

      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
      • 2 GenCC submitters rate it definitive or strong

How MTRFR 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 MTRFR sits. MTRFR and 21 genes near it on chromosome 12, from 122,745,698 to 123,745,697.Chromosome 1212q24.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33122.8 Mb123 Mb123.2 Mb123.4 Mb123.6 MbDENR: 122,752,824–122,771,394, forward strandDENRCCDC62: 122,774,517–122,827,528, forward strandCCDC62HIP1R: 122,834,453–122,862,961, forward strandHIP1RVPS37B: 122,865,328–122,896,140, reverse strandVPS37BABCB9: 122,918,478–122,981,649, reverse strandABCB9OGFOD2: 122,974,580–122,980,044, forward strandOGFOD2ARL6IP4: 122,980,045–122,983,480, forward strandARL6IP4PITPNM2: 122,983,480–123,151,666, reverse strandPITPNM2MPHOSPH9: 123,152,320–123,244,014, reverse strandMPHOSPH9MTRFR: 123,233,436–123,257,960, forward strandMTRFRCDK2AP1: 123,250,112–123,272,334, reverse strandCDK2AP1SBNO1: 123,289,109–123,365,220, reverse strandSBNO1KMT5A: 123,384,087–123,409,353, forward strandKMT5ARILPL2: 123,409,258–123,436,756, reverse strandRILPL2SNRNP35: 123,458,078–123,473,154, forward strandSNRNP35RILPL1: 123,467,802–123,534,417, reverse strandRILPL1TMED2: 123,584,514–123,598,582, forward strandTMED2DDX55: 123,602,073–123,620,943, forward strandDDX55EIF2B1: 123,620,406–123,633,766, reverse strandEIF2B1GTF2H3: 123,633,739–123,662,604, forward strandGTF2H3TCTN2: 123,671,110–123,708,403, forward strandTCTN2ATP6V0A2: 123,712,334–123,761,760, forward strandATP6V0A2Diagram of MTRFR: 3 exons on the forward strand of chromosome 12Exon 2: 11 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 1: 123,233,436–123,233,531, 96 basesExon 2: 123,253,647–123,253,956, 310 basesExon 3: 123,256,813–123,257,960, 1,148 bases1235′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 1.6 kb of the gene's 24.5 kb; 501 of those bases code for the protein.

Sequencing MTRFR

15

positions in MTRFR 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 24.5 kb of MTRFR, introns included, not only the 1.6 kb of exons.

Genes linked to the same conditions

Traits linked to MTRFR

The Human Phenotype Ontology lists these as features of the rare conditions MTRFR can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 25 more traits

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). MTRFR gene: mitochondrial translation release factor in rescue. Retrieved 17 October 2026, from https://dantelabs.com/genes/mtrfr

Vancouver

Dante Labs. MTRFR gene: mitochondrial translation release factor in rescue [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mtrfr

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