関連疾患Defects in RPS10 are the cause of Diamond-Blackfan anemia type 9 (DBA9) [MIM:613308]. 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. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies.
配列類似性Belongs to the ribosomal protein S10e family.
翻訳後修飾Methylated by PRMT5. Methylation is necessary for its interaction with NPS1, its localization in the granular component (GC) region of the nucleolus, for the proper assembly of ribosomes, protein synthesis and optimal cell proliferation.
細胞内局在Cytoplasm. Nucleus > nucleolus. Localized in the granular component (GC) region of the nucleolus. Methylation is required for its localization in the GC region. Co-localizes with NPS1 in the GC region of the nucleolus.