TOMM5

Chr 9

translocase of outer mitochondrial membrane 5

Also known as: C9orf105, Tom5, bA613M10.3

NCBI Gene: 401505 ENSG00000175768 UniProt: Q8N4H5 OMIM: 616169

The TOMM5 protein is a component of the translocase of the outer mitochondrial membrane (TOM) complex, which is essential for importing cytosolic proteins into mitochondria and also plays a role in mitophagy regulation. Pathogenic variants in TOMM5 cause autosomal recessive mitochondrial complex assembly factor 5 deficiency, resulting in severe early-onset mitochondrial disease with developmental delay, hypotonia, and metabolic abnormalities. This gene shows moderate constraint against loss-of-function variants, consistent with its essential role in mitochondrial protein import.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in protein insertion into mitochondrial outer membrane. Located in mitochondrion. Part of mitochondrial outer membrane translocase complex. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.38

LOEUF

Multiple*

Mechanism· predicted