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].[1]
Clinical relevance
Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[2]
↑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 (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Hum. Mutat. 32 (11): 1225–31. doi:10.1002/humu.21562. PMID21786366.
Further reading
Kenmochi, N.; Suzuki, T.; Uechi, T.; Magoori, M.; Kuniba, M.; Higa, S.; Watanabe, K.; Tanaka, T. (2001). "The Human Mitochondrial Ribosomal Protein Genes: Mapping of 54 Genes to the Chromosomes and Implications for Human Disorders". Genomics. 77 (1–2): 65–70. doi:10.1006/geno.2001.6622. PMID11543634.
