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Overview
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Background
Mitochondrial ribosomes consist of a large 39S subunit and a small 28S subunit, both of which are comprised of multiple mitochondrial ribosomal proteins (MRPs) that are encoded by nuclear genes and are essential for protein synthesis within mitochondria. MRP-L18 (mitochondrial ribosomal protein L18), also known as L18mt or HSPC071, is a 180 amino acid protein that localizes to the mitochondrion, where it exists as a component of the 39S ribosomal subunit and works in conjunction with MRPs to mediate protein synthesis. The gene encoding MRP-L18 maps to human chromosome 6, which contains 170 million base pairs and comprises nearly 6% of the human genome. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Additionally, Porphyria cutanea tarda, Parkinson's disease, Stickler syndrome and a susceptibility to bipolar disorder are all associated with genes that map to chromosome 6.
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Overview