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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.
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Protein Aliases: 39S ribosomal protein L40, mitochondrial; L40mt; Large ribosomal subunit protein mL40; Nuclear localization signal-containing protein deleted in velocardiofacial syndrome; Up-regulated in metastasis
Gene Aliases: L40mt; MRP-L22; MRP-L40; MRPL22; MRPL40; NLVCF; URIM
UniProt ID: (Human) Q9NQ50
Entrez Gene ID: (Human) 64976
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