Ribosomes, the organelles that catalyze protein synthesis, are composed of a small subunit (40S) and a large subunit (60S) that consist of over 80 distinct ribosomal proteins. Mammalian ribosomal proteins are encoded by multigene families that contain processed pseudogenes and one functional intron-containing gene within their coding regions. Ribosomal Protein S10 (RPS10) is a 165 amino acid component of the small ribosomal 40S subunit. While generally found in the cytoplasm, RPS10 can localize to the granular component (GC) region of the nucleolus. For this to occur, methylation by PRMT5 is required as well as an interaction with NPS1. Defects in RPS10 are the cause of Diamond-Blackfan anemia type 9 (DBA9). It is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy.View more
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