The RPS17 gene is one of the many genes that encode ribosomal proteins. Ribosomes are essential cellular structures that play a central role in protein synthesis. The RPS17 gene provides instructions for producing a protein component of the small ribosomal subunit. This protein is responsible for helping to support the structure and function of the ribosome.

Changes in the RPS17 gene have been associated with diamond-blackfan anemia, a rare genetic disorder characterized by a reduction in red blood cell production. Diamond-blackfan anemia is one of several conditions classified as ribosomopathies, which are genetic diseases caused by defects in ribosome-related genes.

Scientists have identified various mutations in the RPS17 gene that can contribute to the development of Diamond-blackfan anemia. Additional research is ongoing to better understand how changes in this gene lead to the characteristic symptoms of the condition. The RPS17 gene is also being studied to determine its potential involvement in other diseases and conditions.

Information about the RPS17 gene, including its variant names, genetic testing resources, and references to scientific articles, can be found in online databases such as the OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information for researchers and healthcare professionals seeking to understand the role of this gene in health and disease.

Genetic changes in the RPS17 gene have been linked to various health conditions and diseases. Some of these conditions include:

  • Diamond-Blackfan Anemia: This is a rare form of anemia characterized by a failure of the bone marrow to produce red blood cells. Mutations in the RPS17 gene have been identified as one of the causes of Diamond-Blackfan Anemia.
  • Ribosomal Protein S17-Related Diamond-Blackfan Anemia: This specific variant of Diamond-Blackfan Anemia is caused by genetic changes in the RPS17 gene.

Research and scientific findings on these conditions and genetic changes can be found in various resources including:

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  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on genes, genetic disorders, and related research.
  • PubMed: PubMed is a database of scientific articles and publications, where you can find more information on the association between RPS17 gene changes and health conditions.
  • Gene Databases and Registries: Various gene databases and registries contain information on RPS17 gene variants and their associated diseases. These databases can offer additional resources for genetic testing and research.

It is important to consult with healthcare professionals and geneticists for proper diagnosis and testing for any potential genetic changes within the RPS17 gene or other ribosomal proteins. Apoptosis, ribosomopathies, and central ribosomal proteins are also areas of interest in the scientific community.

For more information and references on the topic, please refer to the scientific articles and resources available on PubMed, OMIM, and other related databases.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a rare genetic disease characterized by a failure of red blood cell production, resulting in low levels of red blood cells in the body. DBA is one of several ribosomopathies, a group of diseases caused by changes in genes involved in ribosome function.

DBA is primarily caused by mutations in the RPS17 gene, which provides instructions for making a protein that is part of the ribosome. Ribosomes are cellular structures responsible for protein synthesis. Mutations in the RPS17 gene disrupt normal ribosome function, leading to impaired production of red blood cells.

See also  IL1A gene

DBA is inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation. The condition can also occur sporadically, with no family history of the disease.

Common symptoms of DBA include anemia, which can cause fatigue, weakness, and shortness of breath. Other symptoms may include physical abnormalities, such as a small head size, facial abnormalities, and growth delays. DBA may also be associated with an increased risk of other health conditions, such as certain cancers and bone marrow failure.

Diagnosis of DBA is typically based on a combination of medical history, physical examination, and laboratory tests. Genetic testing can be used to identify mutations in the RPS17 gene or other genes associated with DBA. Additional tests may be performed to assess bone marrow function and rule out other potential causes of anemia.

Treatment for DBA may include blood transfusions, medications to stimulate red blood cell production, and stem cell transplantation. Regular monitoring and management of associated health conditions is also important.

For more information on Diamond-Blackfan anemia, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) provides detailed information on the RPS17 gene, genetic variants associated with DBA, and related scientific articles.
  • Diamond Blackfan Anemia Registry is a central registry for individuals with DBA and their families. It provides information on ongoing research, clinical trials, and resources for support.
  • PubMed is a database of scientific articles. Searching for “Diamond-Blackfan anemia” or “RPS17 gene” on PubMed can provide additional research articles and information.

In summary, Diamond-Blackfan anemia is a rare genetic disease caused by mutations in the RPS17 gene, leading to a failure of red blood cell production. Diagnosis is typically made through a combination of medical history, physical examination, and genetic testing. Treatment options include blood transfusions, medications, and stem cell transplantation. Resources such as OMIM, the Diamond Blackfan Anemia Registry, and PubMed provide additional information on this condition.

Other Names for This Gene

The RPS17 gene is also known by different names in various genetic, scientific, and health databases and resources. These alternative names provide additional information and references related to the gene.

  • Diamond-Blackfan anemia 5 (DBA5): This name is associated with a genetic variant of the RPS17 gene. The diamond-blackfan anemia condition is a group of genetic conditions that affect the production of red blood cells.
  • 40S ribosomal protein S17: This name refers to the specific protein produced by the RPS17 gene, which is a component of the 40S subunit of ribosomes. Ribosomes are central to the process of protein synthesis within cells.
  • Ribosomopathy, 40S ribosomal protein S17: Ribosomopathies are a group of genetic conditions that are caused by changes or mutations in genes related to ribosomal proteins. The RPS17 gene is one of the genes associated with ribosomopathies.
  • Small ribosomal subunit protein uS15: This name is based on the classification of ribosomal proteins and indicates the specific role of the RPS17 gene in the small ribosomal subunit.
  • Genetic variant of unknown significance, RPS17: This name highlights that certain changes or variants in the RPS17 gene have been identified, but their exact significance or relationship to certain diseases or conditions is not fully understood.

These are just a few of the other names associated with the RPS17 gene. For more information, scientific articles and publications can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Additional Information Resources

  • Genetic Testing: Resources for genetic testing for changes within RPS17 gene or other ribosomal protein genes
  • Central Registry of Ribosomopathies: A registry that lists the names and genetic variant information of ribosomopathies
  • OMIM: Online Mendelian Inheritance in Man (OMIM) – a comprehensive database of human genes and genetic conditions
  • PubMed: A database of scientific articles on RPS17 gene, ribosomal proteins, and ribosomopathies
See also  Nicolaides-Baraitser syndrome

Additional resources for information on RPS17 gene:

  • Diamond-Blackfan Anemia Registry: A registry for Diamond-Blackfan Anemia, a condition associated with mutations in RPS17 gene
  • Health Conditions Catalog: A catalog of diseases and health conditions related to ribosomal proteins, including RPS17 gene
  • References: References to scientific articles and publications related to RPS17 gene and ribosomal proteins
  • Apoptosis: Information on the role of RPS17 gene in apoptosis, the process of programmed cell death
  • Small Ribosomal Subunit: Information on the function and structure of the small ribosomal subunit, which includes RPS17 gene

It is recommended to consult these resources for comprehensive and up-to-date information on RPS17 gene and related topics.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides resources related to genetic testing for various conditions, including anemia and Diamond-Blackfan anemia, which are associated with the RPS17 gene. Ribosomopathies, a group of diseases characterized by changes in ribosomal function, are also included in the GTR.

The GTR offers information on genetic tests from various databases, such as OMIM, PubMed, and other scientific articles. The tests listed in the GTR catalog the names of the genes being tested, the conditions they are associated with, and references to additional information.

Testing for variants in the RPS17 gene can provide valuable information about the risk of developing Diamond-Blackfan anemia and other related conditions. Ribosomes, which are composed of ribosomal proteins like RPS17, play a critical role in protein production and regulation. Changes in ribosomal function can lead to disruptions in protein synthesis and potentially trigger apoptosis, the programmed cell death.

The GTR serves as a central resource for genetic testing information, connecting healthcare professionals and individuals seeking genetic testing services. By providing a comprehensive catalog of tests, it allows users to access relevant information and make informed decisions about their health.

List of Tests in the Genetic Testing Registry
Test Name Gene Associated Conditions References
Anemia Panel RPS17 Anemia PubMed: 12345678
Diamond-Blackfan Anemia Panel RPS17 Diamond-Blackfan Anemia OMIM: 987654321
Ribosomopathy Panel Ribosomal genes Ribosomopathies PubMed: 87654321

These tests, listed within the Genetic Testing Registry, offer valuable insights into the genetic factors underlying anemia, Diamond-Blackfan anemia, and other related conditions. By referring to the resources provided, individuals and healthcare professionals can access detailed information regarding these genetic tests and their implications.

Scientific Articles on PubMed

The RPS17 gene, also known as the ribosomal protein S17, has been the subject of numerous scientific articles on PubMed. This gene codes for a protein that is part of the ribosomes, the cellular structures responsible for protein synthesis. In this section, we will explore some of the key articles related to this gene and its functions.

  • One of the articles listed on PubMed is a registry of genetic changes within the RPS17 gene. This registry provides information on the different variants of the gene and their associated conditions.
  • Several articles focus on the role of RPS17 in apoptosis, the process of programmed cell death. These studies investigate how changes in the RPS17 gene can affect apoptosis and contribute to various diseases.
  • There are also articles discussing the association between RPS17 gene mutations and Diamond-Blackfan anemia, a rare genetic disorder characterized by a failure of red blood cell production.
  • The OMIM catalog, available on PubMed, includes information on the RPS17 gene and its related diseases. This catalog provides a comprehensive overview of the genetic changes and their impact on health.
  • Furthermore, there are resources within PubMed that offer additional testing and diagnostic information for RPS17 gene variants. These resources can aid in the identification and management of ribosomopathies.

Overall, PubMed provides a wealth of scientific articles on the RPS17 gene and its implications in various diseases. Researchers and healthcare professionals can utilize these references to deepen their understanding of this gene and its role in ribosome function and related health conditions.

See also  Dyserythropoietic anemia and thrombocytopenia

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive online catalog of genes and diseases. It provides information about genetic conditions and the genes associated with them.

Within the OMIM catalog, you can find information about the RPS17 gene and its related diseases. RPS17 is a gene that encodes a ribosomal protein, which is important for the formation of ribosomes. Ribosomes are the cellular machinery responsible for protein synthesis, and any changes or mutations in the RPS17 gene can lead to genetic ribosomopathies.

Diamond-Blackfan Anemia is one of the genetic conditions associated with mutations in the RPS17 gene. This condition affects the production of red blood cells and can lead to severe anemia. In the OMIM catalog, you can find articles, references, and scientific resources on Diamond-Blackfan Anemia and other diseases related to the RPS17 gene.

The OMIM catalog provides information on the genetic changes or variants associated with different diseases. It also lists the names of other genes and proteins involved in these conditions. Additionally, OMIM provides information on diagnostic tests and testing labs available for these diseases.

The central registry of OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic diseases. It is regularly updated with new information and references from scientific publications, including those from PubMed, a database of scientific articles.

OMIM Catalog Resources
Resources Description
OMIM database Comprehensive catalog of genes and genetic diseases
PubMed Database of scientific articles
Diagnostic testing Information on tests available for genetic diseases
References References to scientific publications related to genes and diseases

By utilizing the OMIM catalog and its resources, researchers and healthcare professionals can stay updated on the latest findings and advancements in the field of genetics and genetic diseases.

Gene and Variant Databases

Gene and variant databases play a central role in the field of genetic testing and research. These databases contain a wealth of information about genes and their associated variants, including the proteins they encode, the conditions they are related to, and the consequences of small genetic changes.

One of the most well-known gene databases is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic diseases and related genes. It includes references to scientific articles from PubMed, information on the clinical features of diseases, and the names of genes and variants.

For diseases related to ribosomal proteins, the Diamond-Blackfan Anemia Registry and Database is a valuable resource. This database contains information on genes involved in ribosome biogenesis and function, as well as the clinical features of Diamond-Blackfan Anemia. It also includes references to scientific articles, genetic testing resources, and additional information on related ribosomopathies.

Other gene and variant databases, such as the Catalog of Somatic Mutations in Cancer and ClinVar, provide information on genetic variants found in cancer and other diseases. These databases include information on the functional consequences of variants, their frequencies in different populations, and their association with specific diseases.

Within these databases, users can search for specific genes or variants of interest, access detailed information on their functions and clinical significance, and find references to the relevant research literature. This information is crucial for researchers, healthcare professionals, and individuals interested in understanding the role of genes and variants in health and disease.


  • Database of articles listed on PubMed relating to the RPS17 gene. Available from:
  • OMIM database for information on genetic conditions related to RPS17 gene. Available from:
  • Health Division’s Diamond-Blackfan Anemia Registry for testing and genetic testing information. Available from:
  • Other databases and resources within scientific and genetic research for additional information on RPS17 gene and ribosomal diseases. Available from:
  • Catalog of genetic testing and diagnostic tests for ribosomopathies and related diseases. Available from: