機能Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
組織特異性Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
関連疾患Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]. DBA1 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.
配列類似性Belongs to the ribosomal protein S19e family.
細胞内局在Nucleus. Located more specifically in the nucleoli.