功能： disease:Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4) [MIM:612527]. DBA4 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.,similarity:Belongs to the ribosomal protein S17e family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： nucleoplasm,cytosol,ribosome,focal adhesion,membrane,cytosolic small ribosomal subunit,extracellular matrix,extracellular exosome,
功能： disease:Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4) [MIM:612527]. DBA4 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.,similarity:Belongs to the ribosomal protein S17e family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： nucleoplasm,cytosol,ribosome,focal adhesion,membrane,cytosolic small ribosomal subunit,extracellular matrix,extracellular exosome,
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