TOMM20

Chr 1

translocase of outer mitochondrial membrane 20

Also known as: MAS20, MOM19, TOM20

NCBI Gene: 9804 ENSG00000173726 UniProt: Q15388

TOMM20 encodes a central receptor component of the translocase of the outer mitochondrial membrane (TOM) complex that recognizes and translocates cytosolically synthesized mitochondrial preproteins across the outer mitochondrial membrane. Mutations cause autosomal recessive mitochondrial complex V deficiency with early-onset encephalomyopathy, cardiomyopathy, and growth retardation. The gene shows tolerance to loss-of-function variants (pLI 0.03, LOEUF 0.94), suggesting that complete loss of function may be required for disease manifestation.

ResearchSummary from RefSeq, UniProt

Enables mitochondrion targeting sequence binding activity; protein-transporting ATPase activity; and unfolded protein binding activity. Involved in obsolete protein targeting to mitochondrion. Located in mitochondria-associated endoplasmic reticulum membrane contact site and mitochondrial outer membrane. Is active in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

161

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

Mechanism· predicted

Some data sources returned errors (1)