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TIMM22

Chr 17p13

translocase of inner mitochondrial membrane 22

Aliases:
TIM22
MANE:
ENST00000327158.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • combined oxidative phosphorylation deficiency 43

    0.50
  • crush injury

    0.05
  • shoulder fracture

    0.04
  • vitiligo

    0.04
  • clavicle fracture

    0.04
  • parasitic infectious disease

    0.04
  • femoral neck fracture

    0.03
  • isolated hyperchlorhidrosis

    0.03
  • alcohol drinking

    0.03
  • pseudohypoaldosteronism, type IB2, autosomal recessive

    0.03

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

Protein function (UniProt)

Mitochondrial import inner membrane translocase subunit Tim22

Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity)

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.