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

Gene ID: 4577, updated on 12-Sep-2024

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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See MT-TV 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 (1602..1670)
RS_2024_09 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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