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TOMM70

Chr 3q12.2

translocase of outer mitochondrial membrane 70

Aliases:
KIAA0719, Tom70
MANE:
ENST00000284320.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • severe acute respiratory syndrome

    0.46
  • COVID-19

    0.37
  • poisoning

    0.25
  • Global developmental delay

    0.23
  • Abnormal cerebral white matter morphology

    0.23
  • hereditary disease

    0.18
  • Abnormal nasolacrimal system morphology

    0.08
  • Alzheimer disease

    0.07
  • colorectal carcinoma

    0.05
  • ovarian neoplasm

    0.04

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

Protein function (UniProt)

Mitochondrial import receptor subunit TOM70

Acts as a receptor of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) (PubMed:12526792). Recognizes and mediates the translocation of mitochondrial preproteins from the cytosol into the mitochondria in a chaperone dependent manner (PubMed:12526792, PubMed:35025629). Mediates TBK1 and IRF3 activation induced by MAVS in response to Sendai virus infection and promotes host antiviral responses during virus infection (PubMed:20628368, PubMed:25609812, PubMed:32728199). Upon Sendai virus infection, recruits HSP90AA1:IRF3:BAX in mitochondrion and the complex induces apoptosis (PubMed:25609812)

Curated MONDO disease pages that list TOMM70 among their top associated genes.

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.