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    MT-TV mitochondrially encoded tRNA valine [ Homo sapiens (human) ]

    Gene ID: 4577, updated on 10-Oct-2023

    Summary

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    Official Symbol
    MT-TVprovided by HGNC
    Official Full Name
    mitochondrially encoded tRNA valineprovided by HGNC
    Primary source
    HGNC:HGNC:7500
    See related
    MIM:590105; AllianceGenome:HGNC:7500
    Gene type
    tRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTTV; TRNV
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    Genomic context

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    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (1602..1670)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (1602..1670)

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

    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. Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity. Fraidakis MJ, et al. Mitochondrion, 2014 Mar. PMID 24691472
    2. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. Menotti F, et al. Ital Heart J, 2004 Jun. PMID 15320572
    3. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Rorbach J, et al. Nucleic Acids Res, 2008 May. PMID 18400783, Free PMC Article
    4. MELAS. Adam MP, et al. , 1993. PMID 20301411
    5. Primary Mitochondrial Disorders Overview. Adam MP, et al. , 1993. PMID 20301403

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. study describe 4 patients with the m.1644G>A in the MT-TV gene; the mutation appeared to have a steep threshold effect with asymptomatic life up to 70% mutation proportion, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation
      Title: Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
    3. Variations in the levels of mitochondrial valyl tRNA synthetase between tissue types and patients may underlie the difference in clinical presentation between individuals homoplasmic for the 1624C>T MTTV (equivalent to mt-tRNAVal C25U) mutation.
      Title: Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
    4. Observational study of genotype prevalence. (HuGE Navigator)
      Title: A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    • NAR: 2053

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