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MT-TL1

Chr mitochondria

mitochondrially encoded tRNA-Leu (UUA/G) 1

Aliases:
TRNL1

Annotations refreshed 1 month ago.

Predicted protein structure

No predicted 3D structure for MT-TL1. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Diabetes with additional phenotypes suggestive of a monogenic aetiology

    MITOCHONDRIAL
  • Familial diabetes

    MITOCHONDRIAL
  • Hereditary neuropathy

    MITOCHONDRIAL
  • Likely inborn error of metabolism

    MITOCHONDRIAL
  • Mitochondrial disorders

    MITOCHONDRIAL
  • Monogenic diabetes

    MITOCHONDRIAL
  • Retinal disorders

    MITOCHONDRIAL
  • Undiagnosed metabolic disorders

    MITOCHONDRIAL

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Disease associations (Open Targets)

  • MELAS

    0.56
  • maternally-inherited diabetes and deafness

    0.52
  • MELAS syndrome

    0.46
  • hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

    0.38
  • mitochondrial disease

    0.37
  • inborn mitochondrial metabolism disorder

    0.37
  • Macular dystrophy

    0.37
  • MERRF

    0.37
  • inherited retinal dystrophy

    0.37
  • Retinal dystrophy

    0.37

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.