Mitochondrial ribosomal protein L40 (MRPL40)

Mitochondrial ribosomal protein L40 (MRPL40) is a nuclear-encoded protein that forms part of the large (39S) subunit of the mitochondrial ribosome in eukaryotes, where it is essential for protein synthesis within the mitochondrion[2][3]. The mammalian mitoribosome differs significantly from prokaryotic ribosomes in composition and sequence, with MRPL40 contributing to translation of mitochondrially encoded proteins, particularly those involved in oxidative phosphorylation. Defects or deletions in the MRPL40 gene are associated with mitochondrial diseases and are implicated in congenital syndromes such as velo-cardio-facial syndrome and DiGeorge syndrome[2][3]. There is currently no evidence that MRPL40 is a therapeutic target for small-molecule drugs or biologics[2][3].

Other names

MRP-L40MRPL22MRP-L22NLVCFURIML40mtmL4039S ribosomal protein L40, mitochondrialLarge ribosomal subunit protein mL40nuclear localization signal-containing protein deleted in velocardiofacial syndromeup-regulated in metastasis