disease:Defects in RPL5 are the cause of Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]. DBA6 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.,function:Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA.,similarity:Belongs to the ribosomal protein L18P family.,
Cytoplasm . Nucleus, nucleolus .
Aorta,Brain,Cervix carcinoma,Colon,Coronary arterial endothelium,Lung,Lymph,Testis,
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