靶标:
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:
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins