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RPS24
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RPS24

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Reviewed October 2009

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 a protein called ribosomal protein S24. Ribosomal proteins are components of cellular structures called ribosomes, which process the cell's genetic instructions to create proteins.

Because it is difficult to determine the specific functions of individual proteins within ribosomes, the specific function of ribosomal protein S24 is unclear. There are more than 75 different ribosomal proteins, some of which 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 (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? 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 three RPS24 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of ribosomal protein S24. 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). Inappropriate triggering or regulation of cell division and 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-q23

Molecular Location on chromosome 10: base pairs 79,793,517 to 79,816,570

The RPS24 gene is located on the long (q) arm of chromosome 10 between positions 22 and 23.

The RPS24 gene is located on the long (q) arm of chromosome 10 between positions 22 and 23.

More precisely, the RPS24 gene is located from base pair 79,793,517 to base pair 79,816,570 on chromosome 10.

See How do geneticists indicate the location of a gene? 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

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding RPS24?

anemia ; apoptosis ; bone marrow ; cell ; cell division ; gene ; isoforms ; mutation ; protein ; red blood cell ; ribosomes

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 links)

 

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? in the Handbook.

 
Reviewed: October 2009
Published: November 20, 2009