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Gene : RPS19 Homo sapiens

Name  ? ribosomal protein S19 Cytological Location  19q13.2
Brief Description  ribosomal protein S19
description  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, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • BC000023,
  • S19,
  • OTTHUMG00000182676,
  • DBA,
  • DBA,
  • RPS19,
  • DBA1,
  • S19,
  • Diamond-Blackfan anemia,
  • eS19,
  • uc002ort.4,
  • HGNC:10402,
  • NM_001022,
  • eS19
  • identifiers:
  • 6223,
  • ENSG00000105372,
  • RPS19

Genome feature

Region: gene ? Length: 11499  
Location: 19:41859918-41871416 Cyto location: 19q13.2


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Disease

1 Diseases

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184 SN Ps

5 Cross References

18 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results