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

    Gene ID: 4558, updated on 10-Oct-2023

    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_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (577..647)
    105.20220307 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

    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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