| 词条 | MRPL3 |
| 释义 |
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 that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008].[2] Clinical relevanceMutations in this gene have been shown to cause mitochondrial cardiomyopathy.[3] References1. ^{{cite web | title = Entrez Gene: Mitochondrial ribosomal protein L3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=11222| accessdate = 2011-12-30 }} 2. ^{{cite web | title = Entrez Gene: Mitochondrial ribosomal protein L3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=11222| accessdate = 2011-12-30 }} 3. ^{{cite journal |vauthors=Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A | title = Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy | journal = Hum. Mutat. | volume = 32 | issue = 11 | pages = 1225–31 |date=November 2011 | pmid = 21786366 | doi = 10.1002/humu.21562 }} Further reading
| last1 = Kenmochi | first1 = N. | last2 = Suzuki | first2 = T. | last3 = Uechi | first3 = T. | last4 = Magoori | first4 = M. | last5 = Kuniba | first5 = M. | last6 = Higa | first6 = S. | last7 = Watanabe | first7 = K. | last8 = Tanaka | first8 = T. | doi = 10.1006/geno.2001.6622 | title = The Human Mitochondrial Ribosomal Protein Genes: Mapping of 54 Genes to the Chromosomes and Implications for Human Disorders | journal = Genomics | volume = 77 | issue = 1–2 | pages = 65–70 | year = 2001 | pmid = 11543634 }}
| last1 = Ou | first1 = J. H. | last2 = Yen | first2 = T. S. | last3 = Wang | first3 = Y. F. | last4 = Kam | first4 = W. K. | last5 = Rutter | first5 = W. J. | title = Cloning and characterization of a human ribosomal protein gene with enhanced expression in fetal and neoplastic cells | journal = Nucleic Acids Research | volume = 15 | issue = 21 | pages = 8919–8934 | year = 1987 | pmid = 2891103 | pmc = 306413 | doi=10.1093/nar/15.21.8919 }}{{refend}}{{GeneticTranslation}}{{Ribosome subunits}}{{gene-3-stub}}{{protein-stub}} 1 : Ribosomal proteins |
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