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MT-TF mitochondrially encoded tRNA phenylalanine [ Homo sapiens (human) ]

Gene ID: 4558, updated on 12-Sep-2024

Summary

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Official Symbol
MT-TFprovided by HGNC
Official Full Name
mitochondrially encoded tRNA phenylalanineprovided by HGNC
Primary source
HGNC:HGNC:7481
See related
MIM:590070; AllianceGenome:HGNC:7481
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRNF
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Genomic context

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See MT-TF in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (577..647)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (577..647)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene s-rRNA Neighboring gene tRNA-Val

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Itkis Y, et al. Mitochondrion, 2019 Jul. PMID 31009750
  2. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. Zsurka G, et al. Neurology, 2010 Feb 9. PMID 20142618
  3. A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy. Moslemi AR, et al. Neuromuscul Disord, 2004 Jan. PMID 14659412
  4. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. Charif M, et al. Am J Med Genet A, 2015 Oct. PMID 26061759
  5. MERRF. Adam MP, et al. , 1993. PMID 20301693

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This is the 18th MT-TF point mutation associated with a mitochondrial disorder. The onset and the severity of the disease, however, is unique in this case and broadens the clinical picture related to mutations of mitochondrial tRNA-Phe.
    Title: A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.
  2. Optic neuropathy, cardiomyopathy, and cognitive disability was found in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
    Title: Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
  3. role of the point mutation at position 616 in the MT-TF gene (T>C or T>G)in severe epilepsy
    Title: Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
  5. We report a novel heteroplasmic T-->C mutation at nt position 582 within the mitochondrial tRNA(Phe) gene of a 70-year-old woman with mitochondrial myopathy; This adds to the previously described four pathogenic mutations in the tRNA(Phe) gene
    Title: A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
MERRF syndrome
MedGen: C0162672 OMIM: 545000 GeneReviews: Primary Mitochondrial Disorders Overview, MERRF
not available
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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  • NAR: 1455

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Research Materials