Official Full Name
mitochondrial ribosomal protein L40
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome.
MRPL40; mitochondrial ribosomal protein L40; NLVCF, nuclear localization signal deleted in velocardiofacial syndrome; 39S ribosomal protein L40, mitochondrial; MRP L22; mitochondrial; 39S ribosomal protein L40; 39S ribosomal protein L40, mitochondrial precursor; FLJ41774; L40mt; MGC9400; MRP 40; MRP-L40; MRP40; MRPL22; NLVCF; Nuclear localization signal containing protein deleted in velocardiofacial syndrome; Nuclear localization signal-containing protein deleted in velocardiofacial syndrome; RM40_HUMAN; Up-regulated in metastasis; URIM; nuclear localization signal deleted in velocardiofacial syndrome; MRP-L22; fj54c06; wu:fj54c06; zgc:103495