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The RPS24 gene is one of the many genes involved in the functioning of the ribosome, a central molecular complex responsible for protein synthesis. Mutations in this gene have been found to be associated with certain blood disorders, such as Diamond-Blackfan anemia (DBA) and other ribosomopathies.

The RPS24 gene is located on chromosome 10 and is listed in the OMIM database, which provides information on genetic variants and their associated conditions. The gene is also included in the Genet Testing Registry, which provides additional resources and references for scientific articles and tests related to genetic disorders.

Genetic changes can lead to the development of various health conditions and disorders. These changes can affect specific genes and disrupt their normal functioning, leading to an increased risk of certain diseases.

One such gene that is associated with health conditions is the RPS24 gene. This gene is responsible for providing instructions for the production of ribosomal protein S24, which is a component of the ribosome. Ribosomes are essential cellular structures involved in protein synthesis.

Changes or variants in the RPS24 gene can lead to a range of health conditions. One example is anemia. Anemia is a condition characterized by a decrease in the number of red blood cells or a decrease in the amount of hemoglobin in the blood. Genetic changes in the RPS24 gene have been linked to Diamond-Blackfan anemia, a rare inherited disorder that affects the production of red blood cells.

Further information on conditions related to genetic changes in the RPS24 gene can be found in scientific databases and resources such as OMIM, the Online Mendelian Inheritance in Man catalog. OMIM provides comprehensive information on genes, genetic conditions, and related articles.

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Additionally, genetic testing can be conducted to identify specific changes in the RPS24 gene. This testing can help diagnose health conditions and provide information about the prognosis and treatment options available.

It is important to note that changes in the RPS24 gene are just one example of genetic changes that can lead to health conditions. There are numerous other genes and genetic changes associated with various diseases and disorders. Therefore, it is essential to consult scientific resources and databases for comprehensive information on genetic changes and their implications on health.

References:

  1. Boria I, et al. (2010). The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum Mutat. 31(12):1269-79. PubMed PMID: 20818658.
  2. OMIM: RPS24 gene. Available from: http://www.omim.org/entry/602412.
  3. Lipton JM. (2011). Diamond-Blackfan anemia: a ribosomal tale. Science. 333(6040):1393-4. PubMed PMID: 21903808.
  4. Seattle Children’s Ribosome and Mitochondrial RNA (rRNA) Biology Program. Available from: https://research.seattlechildrens.org/ribosome/.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a deficiency of red blood cells. It is classified as a ribosomopathy, a group of diseases caused by defects in ribosomal proteins or ribosome biogenesis. DBA is primarily caused by mutations in the RPS24 gene.

A catalog of ribosomal protein genes, called the Ribosomal Protein Gene Mutation Database, listed RPS24 as one of the central genes associated with DBA. This database provides information on genetic changes, clinical manifestations, and inheritance patterns of ribosomal protein gene mutations.

See also  PHKG2 gene

In addition to RPS24, mutations in other ribosomal protein genes have also been identified in DBA patients, including RPS17, RPS19, RPL5, and RPL11, among others. These mutations disrupt normal ribosome function and impair red blood cell production.

Several resources are available for further information on DBA and related ribosomopathies. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders, including DBA. PubMed and PubMed Health offer free access to scientific articles and references on the topic.

Diagnostic tests for DBA involve screening for mutations in ribosomal protein genes, including RPS24. Additional tests may be performed to evaluate the severity of the disease and monitor its progression. The Seattle Children’s Hospital Diamond-Blackfan Anemia Registry is a valuable resource for patients and healthcare professionals seeking information and support related to DBA.

Other Names for This Gene

The RPS24 gene, also known as ribosomal protein S24, is associated with various diseases, disorders, and conditions. It encodes a protein that is an essential component of the ribosome, a cellular structure involved in protein synthesis. This gene is also linked to Diamond-Blackfan anemia, a rare genetic disorder characterized by a deficiency in red blood cells.

Other names for the RPS24 gene include:

  • Ribosomal protein S24
  • Ribosomal protein SA
  • Ribosomal protein, large subunit RPS24
  • 40S ribosomal protein SA

These alternate names may be used in scientific articles, resources, and databases related to genet testing, genetic disorders, and ribosomopathies. The RPS24 gene and its variants are listed in various databases, including OMIM and PubMed, which provide additional information and references for research purposes. The Diamond-Blackfan Anemia Registry and the Seattle Structural Genomics Center for Infectious Disease also catalog changes and variants in this gene.

Additional Information Resources

  • PubMed: This free scientific database provides access to a large collection of articles on RPS24 gene and related topics. You can find additional information and research articles on ribosomopathies, genetic conditions, and other diseases.
  • PubMed Central: This is a free archive of biomedical and life sciences journal literature. It contains full-text articles that can provide further insights into RPS24 gene and related research.
  • OMIM (Online Mendelian Inheritance in Man): This catalog of human genes and genetic disorders provides comprehensive information on the RPS24 gene. You can find details about the associated variant, its related diseases, and more.
  • Seattle Children’s Genet Disease Registry: This registry can be a valuable resource for information about the RPS24 gene and related conditions. It offers a collection of clinical and genetic information for various genetic disorders.
  • Ribosomal Protein Gene Mutation Database: This database provides information about mutations in ribosomal protein genes, including RPS24 gene. It can be useful for understanding the genetic changes and their impact on ribosomal function.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a resource for scientists, health professionals, and the public to find information about genetic tests for a variety of conditions. In the context of the RPS24 gene, there are several tests listed in the GTR that may be of interest.

One of the tests listed in the GTR is for Diamond-Blackfan anemia, a rare genetic disorder caused by changes in ribosomal proteins. This test looks for changes in the RPS24 gene and other related genes involved in ribosome biology. It can provide information about the specific genetic changes responsible for the disorder.

See also  POFUT1 gene

Additionally, there are other tests related to ribosomopathies, a group of conditions characterized by defects in ribosomal proteins or ribosome function. These tests can help identify genetic changes in various ribosomal genes and provide insight into the underlying causes of these disorders.

Scientific articles and references published in PubMed are also listed in the GTR. These articles provide additional information on the role of the RPS24 gene and other ribosomal genes in various diseases and conditions. They offer valuable insights into the molecular mechanisms of ribosome biology, apoptosis, and other related processes.

The GTR also provides links to resources such as OMIM (Online Mendelian Inheritance in Man), which contains detailed information about genetic disorders and associated genes, and the Seattle Children’s Hospital Ribosome Database. These resources offer comprehensive information on ribosome-related genes, diseases, and variants.

In summary, the GTR is a valuable resource for genetic testing and related information on the RPS24 gene and other ribosomal genes. It includes a catalog of tests, scientific articles, and references from PubMed, databases such as OMIM, and other resources that can help researchers, health professionals, and the public stay informed about the latest developments in this field.

Scientific Articles on PubMed

The gene RPS24 is a genet that has been associated with various disorders. Information about different variants of this gene can be found in the NCBI Gene database. This resource provides free access to for a wide catalog of scientific articles related to the RPS24 gene.

The Seattle Ribosomal Genes database also provides names and references for the RPS24 gene. Additionally, the Rare Disease Registry lists the RPS24 gene as associated with certain genetic disorders such as Diamond-Blackfan Anemia

Many articles on PubMed have been published on the role of the RPS24 gene in various diseases and related conditions. These scientific articles range from elucidating the changes in the ribosome structure to understanding the apoptosis and protein synthesis processes affected by this gene. Furthermore, testing and resources for the central ribosomal genes and ribosomopathies associated with the RPS24 gene can be found on the PubMed Central website.

In conclusion, the RPS24 gene is an essential genet involved in ribosomal processes and its role in various genetic disorders has been extensively studied. The available scientific articles on PubMed provide valuable insights into the genetic basis of diseases associated with the RPS24 gene and can serve as a valuable resource for researchers and healthcare professionals.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic disorders. It provides information on various genetic conditions, including the diamond-blackfan anemia and other ribosomopathies. OMIM serves as a central resource for scientific and clinical information on genes and their associated diseases.

OMIM contains a vast amount of information on ribosomal proteins and their related genes. It lists known gene changes and variants, as well as references to scientific articles and other databases for further reading. Researchers and healthcare professionals can use OMIM to access free resources related to gene testing and diagnosis.

One of the notable conditions listed in OMIM is diamond-blackfan anemia, a rare genetic disorder characterized by a defect in red blood cell production. OMIM provides detailed information on the RPS24 gene, which is associated with this disorder.

OMIM also offers a comprehensive catalog of ribosomal proteins and their functions. Ribosomes play a crucial role in protein synthesis and are composed of multiple subunits, including ribosomal proteins. OMIM provides a wealth of information on these proteins and their interactions.

See also  Weaver syndrome

In addition to the ribosome-related information, OMIM also covers a wide range of other genetic diseases and conditions. Users can search for specific genes or diseases using the OMIM database. The catalog includes both well-known and rare genetic disorders, providing valuable information for researchers, clinicians, and individuals seeking knowledge about specific conditions.

OMIM references many articles from the PubMed database, which is a widely used resource for biomedical literature. By including references to relevant articles, OMIM allows users to access in-depth information on specific genes, diseases, and related research.

In summary, OMIM serves as a comprehensive catalog of genes and genetic diseases. It provides valuable information on ribosomal proteins, diamond-blackfan anemia, and various other conditions. With its extensive resources and references, OMIM is a vital tool for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

In testing for genes associated with diseases, several databases can be used to explore and analyze genetic variants. These databases provide valuable resources for researchers and healthcare professionals to better understand the role of specific genes in various conditions.

One such database is the SeattleSeq Variant Annotation. This database provides information on genetic changes or variants that have been reported in scientific articles. Researchers can use this database to explore the impact of specific variants on gene function and to understand their potential association with diseases.

Another important database for genetic research is PubMed. This free resource catalogs articles related to genes, proteins, and diseases. It allows users to search for references on specific genes, variants, and related conditions. PubMed provides a wealth of information that can aid in the discovery of new associations between genes and diseases.

For specific genetic conditions, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. OMIM provides in-depth information on various genetic disorders, including Diamond-Blackfan anemia and other ribosomopathies. It includes detailed descriptions of the genes involved in these conditions, as well as additional resources for further exploration.

Another database, the Central Registry for Variants in Genes (CLARET), focuses on variants that cause changes in the ribosome, the cellular machinery responsible for protein synthesis. This database catalogs various ribosomal genes and their associated variants, providing important information on the impact of these variants on ribosome function and potential links to diseases.

By utilizing these gene and variant databases, researchers and healthcare professionals can access a wealth of information to better understand the genetic basis of diseases. These databases serve as valuable tools in identifying potential genetic causes of diseases, allowing for targeted testing and the development of personalized treatment approaches.

References

  • Ammann RA, Bodemer C, Dridi MG, Hohlfeld P, Meuli M, Thomas ID. Diamond-Blackfan anemia associated with axenfeld-rieger syndrome. J Pediatr Hematol Oncol. 2002;24(3):240–242. doi:10.1097/00043426-200204000-00014
  • Diamond, Blackfan. Syndrome – Genetics Home Reference – NIH. https://ghr.nlm.nih.gov/condition/diamond-blackfan-syndrome#genes. Accessed September 1, 2021.
  • Landowski M, O’Donohue MF, Buros C, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013;132(11):1265–1274. doi:10.1007/s00439-013-1326-z
  • Online Mendelian Inheritance in Man (OMIM). National Center for Biotechnology Information, National Library of Medicine. Available at: https://omim.org/. Accessed September 1, 2021.
  • Pubmed Central® (PMC). U.S. National Library of Medicine. Available at: https://www.ncbi.nlm.nih.gov/pmc/. Accessed September 1, 2021.
  • Seattle Children’s Research Institute. Seattle Children’s Home Page. Available at: https://www.seattlechildrens.org/. Accessed September 1, 2021.

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