TOMM22

Chr 22

translocase of outer mitochondrial membrane 22

Also known as: 1C9-2, MST065, MSTP065, TOM22

NCBI Gene: 56993 ENSG00000100216 UniProt: Q9NS69

The encoded protein is a central receptor component of the translocase of the outer mitochondrial membrane (TOM) complex that recognizes and translocates cytosolic mitochondrial preproteins across the outer mitochondrial membrane. Mutations cause autosomal recessive mitochondrial complex assembly factor deficiency, presenting as early-onset mitochondrial disease affecting multiple organ systems. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.66), consistent with its essential role in mitochondrial protein import.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.66

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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