NCIt synonyms : Ribosomal Protein S19 wt Allele; DBA; DBA1; Diamond-Blackfan Anemia Gene; S19; eS19; Loss of Heterozygosity on Chromosome 19, Region 1 Gene; LOH19CR1;
NCIt definition : Human RPS19 wild-type allele is located in the vicinity of 19q13.2 and is approximately
11 kb in length. This allele, which encodes 40S ribosomal protein S19, may play a
role in both erythrocyte differentiation and protein synthesis. Mutations that result
in the expression of a truncated gene are associated with Diamond-Blackfan anemia.
Aberrant elevated expression of this gene is associated with some colon carcinomas.;
NCIt note : 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. The RPS19 gene encodes a ribosomal
protein that is a component of the 40S subunit. (Entrez Gene);