功能： disease:Defects 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.,function:Required for rRNA maturation.,similarity:Belongs to the ribosomal protein S7e family.,subunit:Binds IPO9 with high affinity.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Colocalizes with NEK6 in the centrosome. .
功能： disease:Defects 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.,function:Required for rRNA maturation.,similarity:Belongs to the ribosomal protein S7e family.,subunit:Binds IPO9 with high affinity.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Colocalizes with NEK6 in the centrosome. .
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