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MT-TH

Chr mitochondria

mitochondrially encoded tRNA-His (CAU/C)

Aliases:
trnH
OMIM: 590040 ↗NCBI: 4564 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    MITOCHONDRIAL

  • Mitochondrial disorders

    MITOCHONDRIAL

  • Undiagnosed metabolic disorders

    MITOCHONDRIAL

  • Retinal disorders

    MITOCHONDRIAL

  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL

Disease associations (Open Targets)

  • inborn mitochondrial metabolism disorder

    0.37

  • Mitochondrial non-syndromic sensorineural deafness

    0.37

  • MERRF

    0.37

  • mitochondrial disease

    0.37

  • breast carcinoma

    0.04

  • keratoconus

    0.02

  • ulcerative colitis

    0.01

  • autism

    0.01

  • Lyme disease

    0.01

  • sclerosing cholangitis

    0.01

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.