基因名:
Mrpl40
产品别名:
Nlvcf; Mrpl40; mitochondrial ribosomal protein L40; mitochondrial ribosomal protein L40; 39S ribosomal protein L40, mitochondrial; L40mt; MRP-L40; nuclear localization signal protein absent in velo-cardio-facial patients; nuclear localization signal-containing protein deleted in velocardiofacial syndrome homolog; 线粒体核糖体蛋白L40;
背景信息:
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]