基因名：
RPS19
产品别名：
DBA； DBA1； LOH19CR1； S19； eS19； RPS19； ribosomal protein S19； ribosomal protein S19； 40S ribosomal protein S19； loss of heterozygosity on chromosome 19, region 1； loss of heterozygosity, 19, chromosomal region 1； small ribosomal subunit protein eS19；
背景信息：
40S Ribosomal Protein S19 (RPS19) is a ribosomal protein that Belongs to the ribosomal protein S19e family. RPS19 is located in the nucleoli, and higher level expression is seen in colon carcinoma tissue than normal colon tissue. It required for pre-rRNA processing and maturation of 40S ribosomal subunits. RPS19 plays a role in many biological processes, such as endocrine pancreas development, erythrocyte differentiation, mRNA metabolic process. Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1), which 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.
