disease:Defects in RPS24 are the cause of Diamond-Blackfan anemia type 3 (DBA3) [MIM:610629]. DBA3 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 processing of pre-rRNA and maturation of 40S ribosomal subunits.,similarity:Belongs to the ribosomal protein S24e family.,tissue specificity:Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandular organs, contain significantly higher levels.,
nucleus,nucleoplasm,cytoplasm,cytosol,ribosome,small ribosomal subunit,membrane,cytosolic small ribosomal subunit,
Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandular organs, contain significantly higher levels.
下载说明书
