MRPL48 polyclonal antibody

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-L48 (mitochondrial ribosomal protein L48), also known as HSPC290, is a 212 amino acid protein that localizes to the mitochondrion, where it exists as a component of the 39S ribosomal subunit and works in conjunction with other MRPs to mediate protein synthesis. The gene encoding MRP-L48 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.