The gene tomm40 encodes a core component of the translocase of the outer mitochondrial membrane (TOM) complex. The tomm40 protein is essential for the import of nuclear-encoded mitochondrial precursor ...[+]

The gene tomm40 encodes a core component of the translocase of the outer mitochondrial membrane (TOM) complex. The tomm40 protein is essential for the import of nuclear-encoded mitochondrial precursor proteins. It functions as a central component of the TOM complex, facilitating the recognition and translocation of precursor proteins across the mitochondrial outer membrane. This protein is localized to the mitochondrial outer membrane. In Xenopus laevis and Xenopus tropicalis, the tomm40 protein is critical for mitochondrial biogenesis and function, supporting cellular energy production. Expression is observed in tissues with high metabolic demand, including the nervous system, muscle, and developing organs. The protein's function is indispensable for cellular energy metabolism and overall organismal development. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD