Ribosomal Protein L11 Polyclonal Antibody

disease:Defects in RPL11 are the cause of Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562]. DBA7 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:Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S ribosomal subunits.,similarity:Belongs to the ribosomal protein L5P family.,