Involvement in diseaseDefects in RPS7 are the cause of Diamond-Blackfan anemia type 8 (DBA8) [MIM:612563]. DBA8 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.
Sequence similaritiesBelongs to the ribosomal protein S7e family.