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Rabbit Anti-MRPS16 antibody
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 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Defects in MRPS16 are the cause of combined oxidative phosphorylation deficiency type 2 (COXPD2) [MIM:610498]. Defects in the mitochondrial oxidative phosphorylation system result in devastating, mainly multisystem, diseases. COXPD2 symptoms include fatal neonatal metabolic acidosis with agenesis of the corpus callosum.
Similarity:
Belongs to the ribosomal protein S16P family.
SWISS:
Q9Y3D3
Gene ID:
51021
Database links:
Entrez Gene: 51021 Human
Omim: 609204 Human
SwissProt: Q9Y3D3 Human
Unigene: 36312 Human
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