RPS19 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - DBA - DBA1 - Diamond-Blackfan Anemia Gene - LOH19CR1 - Loss of Heterozygosity on Chromosome 19, Region 1 Gene - Ribosomal Protein S19 wt Allele - S19 - eS19