Mitochondrial ribosomal protein L3 is a
protein that in humans is encoded by the MRPL3
gene.[5]
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].[5]
Clinical relevance
Mutations in this gene have been shown to cause mitochondrial
cardiomyopathy.[6]
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.