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Genetics Home Reference: your guide to understanding genetic conditions
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RPS24

Reviewed February 2012

What is the official name of the RPS24 gene?

The official name of this gene is “ribosomal protein S24.”

RPS24 is the gene's official symbol. The RPS24 gene is also known by other names, listed below.

What is the normal function of the RPS24 gene?

The RPS24 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 RPS24 gene is among those found in the small subunit.

The specific functions of the RPS24 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).

Does the RPS24 gene share characteristics with other genes?

The RPS24 gene belongs to a family of genes called RPS (S ribosomal proteins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the RPS24 gene related to health conditions?

Diamond-Blackfan anemia - caused by mutations in the RPS24 gene

At least six RPS24 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of the RPS24 protein. Studies indicate that a shortage of functioning ribosomal proteins may increase the self-destruction 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.

Where is the RPS24 gene located?

Cytogenetic Location: 10q22

Molecular Location on chromosome 10: base pairs 78,033,759 to 78,056,812

The RPS24 gene is located on the long (q) arm of chromosome 10 at position 22.

The RPS24 gene is located on the long (q) arm of chromosome 10 at position 22.

More precisely, the RPS24 gene is located from base pair 78,033,759 to base pair 78,056,812 on chromosome 10.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RPS24?

You and your healthcare professional may find the following resources about RPS24 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RPS24 gene or gene products?

  • DBA3
  • 40S ribosomal protein S24
  • ribosomal protein S24 isoform a
  • ribosomal protein S24 isoform b
  • ribosomal protein S24 isoform c
  • ribosomal protein S24 isoform d
  • ribosomal protein S24 isoform e
  • ribosomal protein S24 isoform f
  • RS24_HUMAN
  • S24

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RPS24?

anemia ; apoptosis ; bone marrow ; cell ; cell division ; gene ; protein ; ribosomes ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19689926?dopt=Abstract)
  • Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. (http://www.ncbi.nlm.nih.gov/pubmed/20960466?dopt=Abstract)
  • Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet. 2008 May 1;17(9):1253-63. doi: 10.1093/hmg/ddn015. Epub 2008 Jan 29. (http://www.ncbi.nlm.nih.gov/pubmed/18230666?dopt=Abstract)
  • Ellis SR, Gleizes PE. Diamond Blackfan anemia: ribosomal proteins going rogue. Semin Hematol. 2011 Apr;48(2):89-96. doi: 10.1053/j.seminhematol.2011.02.005. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21435505?dopt=Abstract)
  • Farrar JE, Dahl N. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. Semin Hematol. 2011 Apr;48(2):124-35. doi: 10.1053/j.seminhematol.2011.02.003. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21435509?dopt=Abstract)
  • Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2. (http://www.ncbi.nlm.nih.gov/pubmed/17186470?dopt=Abstract)
  • Ito E, Konno Y, Toki T, Terui K. Molecular pathogenesis in Diamond-Blackfan anemia. Int J Hematol. 2010 Oct;92(3):413-8. doi: 10.1007/s12185-010-0693-7. Epub 2010 Sep 30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20882441?dopt=Abstract)
  • Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. doi: 10.1016/j.hoc.2009.01.004. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19327583?dopt=Abstract)
  • Narla A, Hurst SN, Ebert BL. Ribosome defects in disorders of erythropoiesis. Int J Hematol. 2011 Feb;93(2):144-9. doi: 10.1007/s12185-011-0776-0. Epub 2011 Feb 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21279816?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6229)
  • OMIM: RIBOSOMAL PROTEIN S24 (http://omim.org/entry/602412)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2012
Published: July 7, 2014