{"symbol":"MRPL40","synonyms":["MRP-L40","NLVCF","L40mt","MRPL22","URIM"],"name":"mitochondrial ribosomal protein L40","description":"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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":64976,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/64976","proteins":[{"symbol":"RM40_HUMAN","href":"/api/1.0/protein/RM40_HUMAN"}],"hgncRootFamilies":[{"name":"Mitochondrial ribosomal proteins (MRPL, MRPS)","href":"/api/1.0/gene_family/Mitochondrial+ribosomal+proteins+%28MRPL%2C+MRPS%29"}]}