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    MT-TK mitochondrially encoded tRNA lysine [ Homo sapiens (human) ]

    Gene ID: 4566, updated on 12-Sep-2024

    Summary

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    Official Symbol
    MT-TKprovided by HGNC
    Official Full Name
    mitochondrially encoded tRNA lysineprovided by HGNC
    Primary source
    HGNC:HGNC:7489
    See related
    MIM:590060; AllianceGenome:HGNC:7489
    Gene type
    tRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTTK; TRNK
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    Genomic context

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    See MT-TK 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 (8295..8364)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (8295..8364)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Asp Neighboring gene cytochrome c oxidase subunit II Neighboring gene ATP synthase F0 subunit 8 Neighboring gene ATP synthase F0 subunit 6 Neighboring gene cytochrome c oxidase subunit III

    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. Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. Altmann J, et al. J Neurol, 2016 May. PMID 26995359
    2. Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys. Gambello MJ, et al. Muscle Nerve, 2006 Oct. PMID 16810691
    3. Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. van de Glind G, et al. Eur J Paediatr Neurol, 2007 Jul. PMID 17293137
    4. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. Blakely EL, et al. J Neurol, 2007 Sep. PMID 17410322
    5. A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes. Zaganas I, et al. J Neurol, 2009 Feb. PMID 19253012

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
      Title: A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
    2. Study further broadens the clinical spectrum of the m.8344A>G mutation, document the large clinical variability between carriers of the same mutation, even within families and indicate an overlap of the phenotype with other mitochondrial DNA-associated syndromes
      Title: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
    3. provides evidence toward the pathogenicity of the m.8348A>G mutation and suggest that m.5628T>C is probably a neutral polymorphism.
      Title: The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia.
    4. study of a Greek family that includes seven symptomatic cases of 8344 A>G lys mitochondrial tRNA mutation; clustering of unusual manifestations in this kindred suggests that much of the phenotypic variability of 8344 A>G is determined by mitochondrially encoded modifiers in cis
      Title: Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.
    5. The results unambiguously demonstrate that modifications pre-structure the anticodon as a key prerequisite for efficient and accurate recognition of cognate and wobble codons by transfer RNA lysine.
      Title: Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism.
    6. This is the first reported case of a double-point mutation in mtDNA, tRNA(Lys) and tRNA(Leu) genes, both of which were heteroplasmic and pathogenic for MERRF/MELAS overlap syndrome.
      Title: MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    7. we describe the clinical and molecular features of a new large multigenerational family with the G8363A mtDNA tRNA(Lys) gene mutation and we review the literature of cases with this mutation
      Title: Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
    8. We describe a typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.
      Title: The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.
    9. We describe a A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes in a 17 year-old girl.
      Title: A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

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

    • NAR: 1197

    Gene LinkOut

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