Mitochondrial ribosomal protein L3 explained
Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[1]
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 relevance
Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[3]
Further reading
- Kenmochi . N. . Suzuki . T. . Uechi . T. . Magoori . M. . Kuniba . M. . Higa . S. . Watanabe . K. . Tanaka . T. . 10.1006/geno.2001.6622 . The Human Mitochondrial Ribosomal Protein Genes: Mapping of 54 Genes to the Chromosomes and Implications for Human Disorders . Genomics . 77 . 1–2 . 65–70 . 2001 . 11543634.
- Ou . J. H. . Yen . T. S. . Wang . Y. F. . Kam . W. K. . Rutter . W. J. . Cloning and characterization of a human ribosomal protein gene with enhanced expression in fetal and neoplastic cells . Nucleic Acids Research . 15 . 21 . 8919–8934 . 1987 . 2891103 . 306413 . 10.1093/nar/15.21.8919.
Notes and References
- Web site: Entrez Gene: Mitochondrial ribosomal protein L3. 2011-12-30 .
- Web site: Entrez Gene: Mitochondrial ribosomal protein L3. 2011-12-30 .
- 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 . Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy . Hum. Mutat. . 32 . 11 . 1225–31 . November 2011 . 21786366 . 10.1002/humu.21562 . 46713472 . free .