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RPS19 gene

ribosomal protein S19
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Normal Function

The RPS19 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

Each ribosome is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPS19 gene is among those found in the small subunit.

The specific functions of the RPS19 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

Health Conditions Related to Genetic Changes

Diamond-Blackfan anemia

More than 170 RPS19 gene mutations have been identified in individuals with Diamond-Blackfan anemia. This disorder primarily affects the bone marrow, which produces new blood cells. People with this condition often also have physical abnormalities affecting various parts of the body.

The RPS19 gene mutations that cause Diamond-Blackfan anemia are believed to cause problems with ribosomal function. Studies indicate that a shortage of functioning ribosomes may increase apoptosis of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia). Abnormal regulation of cell division or inappropriate triggering of apoptosis may contribute to the other health problems and unusual physical features that affect some people with Diamond-Blackfan anemia.

More About This Health Condition

Other Names for This Gene

  • 40S ribosomal protein S19
  • DBA
  • eS19
  • RS19_HUMAN
  • S19

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum Mol Genet. 2007 Jul 15;16(14):1720-7. Epub 2007 May 20. Citation on PubMed
  • Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta. 2009 Oct;1792(10):1036-42. doi: 10.1016/j.bbadis.2009.08.002. Epub 2009 Aug 16. Citation on PubMed or Free article on PubMed Central
  • Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Review. Citation on PubMed
  • Caterino M, Aspesi A, Pavesi E, Imperlini E, Pagnozzi D, Ingenito L, Santoro C, Dianzani I, Ruoppolo M. Analysis of the interactome of ribosomal protein S19 mutants. Proteomics. 2014 Oct;14(20):2286-96. doi: 10.1002/pmic.201300513. Epub 2014 Sep 18. Citation on PubMed
  • Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [updated 2019 Mar 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK7047/ Citation on PubMed
  • Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. Pediatr Blood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183. Epub 2014 Aug 17. Citation on PubMed
  • Gregory LA, Aguissa-Touré AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S. Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res. 2007;35(17):5913-21. Epub 2007 Aug 28. Citation on PubMed or Free article on PubMed Central
  • Kuramitsu M, Hamaguchi I, Takuo M, Masumi A, Momose H, Takizawa K, Mochizuki M, Naito S, Yamaguchi K. Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. Br J Haematol. 2008 Feb;140(3):348-59. doi: 10.1111/j.1365-2141.2007.06930.x. Citation on PubMed
  • Morimoto K, Lin S, Sakamoto K. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. Mol Genet Metab. 2007 Apr;90(4):358-62. Epub 2006 Dec 18. Review. Citation on PubMed
  • Ozono S, Mitsuo M, Noguchi M, Nakagawa S, Ueda K, Inada H, Ohga S, Ito E. Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. Pediatr Int. 2016 Sep;58(9):930-3. doi: 10.1111/ped.13018. Epub 2016 Sep 6. Citation on PubMed
  • Zhang JY, Jia M, Zhao HZ, Luo ZB, Xu WQ, Shen HP, Tang YM. A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. Blood Cells Mol Dis. 2016 Nov;62:1-5. doi: 10.1016/j.bcmd.2016.08.003. Epub 2016 Aug 31. Citation on PubMed
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