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MT-TK

Chr mitochondria

mitochondrially encoded tRNA-Lys (AAA/G)

Aliases:
trnK
OMIM: 590060 ↗NCBI: 4566 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

No predicted 3D structure for MT-TK. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    MITOCHONDRIAL

  • Likely inborn error of metabolism

    MITOCHONDRIAL

  • Mitochondrial disorders

    MITOCHONDRIAL

  • Multiple lipomas

    MITOCHONDRIAL

  • Undiagnosed metabolic disorders

    MITOCHONDRIAL

  • Monogenic hearing loss

    MITOCHONDRIAL

  • Optic neuropathy

    MITOCHONDRIAL

  • Congenital myopathy

    MITOCHONDRIAL

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Disease associations (Open Targets)

  • MERRF

    0.53

  • MERRF syndrome

    0.44

  • multiple symmetric lipomatosis

    0.37

  • Leigh syndrome

    0.37

  • inborn mitochondrial metabolism disorder

    0.37

  • mitochondrial disease

    0.37

  • maternally-inherited Leigh syndrome

    0.37

  • maternally-inherited cardiomyopathy and hearing loss

    0.37

  • optic atrophy

    0.18

  • Sensorineural hearing impairment

    0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.