The RPS10 gene is a gene that is found in the human genome. It plays a crucial role in the production of ribosomes, which are the central proteins responsible for protein synthesis. Mutations in the RPS10 gene have been linked to certain genetic diseases, including Diamond-Blackfan anemia. This gene is listed in various databases, such as OMIM, and is studied extensively in scientific research.

Diamond-Blackfan anemia is a rare blood disorder that can cause severe anemia and other related health conditions. Mutations in the RPS10 gene can lead to changes in ribosomal function, impacting protein synthesis and cellular processes such as apoptosis. The RPS10 gene variant has been extensively studied and is listed in the OMIM database as a causative gene for Diamond-Blackfan anemia. This information is valuable for genetic testing and can help diagnose individuals with this condition.

In addition to Diamond-Blackfan anemia, the RPS10 gene has been studied in the context of other ribosomopathies, which are a group of genetic disorders characterized by mutations in ribosomal genes. These ribosomopathies can cause a variety of health conditions and have been the subject of many scientific articles and research studies. The RPS10 gene, along with other ribosomal genes, is a central focus in understanding the underlying mechanisms of these conditions.

The RPS10 gene can be found in various genetic databases, such as OMIM, PubMed, and the Seattle Children’s Hospital Ribosome Database. These resources provide additional information on the gene, including its function, associated diseases, and references to scientific articles. They are valuable tools for researchers and healthcare professionals who are interested in studying or diagnosing conditions related to the RPS10 gene.

Genetic changes in the RPS10 gene can lead to various health conditions. These changes can be identified through genetic testing or by studying databases and scientific articles.

One health condition related to changes in the RPS10 gene is Diamond-Blackfan anemia. This condition is characterized by a lack of red blood cells, which leads to anemia. The RPS10 gene provides instructions for producing a protein that is part of the ribosomes, the cellular structures responsible for protein synthesis. Changes in this gene disrupt the normal functioning of the ribosomes, leading to decreased production of red blood cells.

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Databases and registries, such as OMIM and the Seattle Children’s Hospital’s Ribosomal Protein Gene Variation Project, provide valuable information on genetic changes and associated health conditions. These resources list known variants of genes, related diseases, and additional information on ribosomopathies and other health conditions.

Scientific articles indexed in databases like PubMed also provide insights into the relationship between genetic changes in the RPS10 gene and health conditions. Researchers investigate the impact of these changes on ribosomal function, cell division, and central processes like apoptosis.

Genetic tests can be used to identify changes in the RPS10 gene and confirm their association with health conditions. These tests are especially helpful in diagnosing Diamond-Blackfan anemia and other related diseases. Testing can also provide valuable information for genetic counseling and management of these conditions.

In summary, changes in the RPS10 gene can lead to health conditions such as Diamond-Blackfan anemia. Databases, registries, and scientific articles provide essential resources for understanding the genetic changes and associated health conditions. Genetic testing plays a crucial role in diagnosing these conditions and providing appropriate medical care.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a genetic disorder that affects the production of red blood cells. It is characterized by a failure of the bone marrow to produce these cells, leading to severe anemia. DBA is a rare condition, with an estimated prevalence of 5 to 7 cases per million individuals.

The RPS10 gene is one of the genes implicated in DBA. Mutations in this gene can disrupt the normal functioning of ribosomes, the cellular structures responsible for protein synthesis. The RPS10 gene is located on chromosome 6 and provides instructions for making a protein that is part of the ribosome. It is involved in the assembly of ribosomes and the regulation of ribosome biogenesis.

See also  Sandhoff disease

DBA can be diagnosed through genetic testing, which involves sequencing the RPS10 gene and looking for changes or variants that may be associated with the disorder. There are several databases and resources available for genetic testing, such as the Seattle Children’s Hospital Research Institute’s Division of Hematology-Immunology and the Blood Disorders Program’s Diamond-Blackfan Anemia Registry and DNA/RNA Bank.

Additional information on the RPS10 gene and its role in DBA can be found in scientific articles and databases such as PubMed and Online Mendelian Inheritance in Man (OMIM). These resources provide references to other articles and research papers that discuss the genetic basis of DBA and the role of RPS10 and other genes in the condition.

DBA is part of a group of disorders known as ribosomopathies, which are characterized by defects in ribosome function. Ribosomes are essential for protein synthesis, and changes or mutations in ribosomal genes can lead to various conditions and diseases.

In summary, Diamond-Blackfan anemia is a genetic disorder characterized by a failure of the bone marrow to produce red blood cells. The RPS10 gene, along with other genes, plays a role in the development of this condition. Genetic testing and resources listed in databases such as PubMed and OMIM can provide additional information on the genetic basis of DBA and related ribosomal disorders.

Other Names for This Gene

The RPS10 gene is also known by several other names. These names include:

  • RP10
  • PDCD4
  • ribosomal protein S10

This gene is listed in databases and resources such as PubMed, OMIM, and the Seattle Seq Variant Annotation website. It is also referenced in scientific articles and publications related to diamond-blackfan anemia, ribosomopathies, and other genetic conditions.

Additional information about this gene can be found in the central resources and databases for genetic testing and research. These resources provide instructions and guidance for scientific tests, as well as information on related genes and proteins.

For further details on the RPS10 gene and its role in health and disease, please refer to the references and articles listed in the PubMed catalog, OMIM registry, and other reputable sources.

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive and regularly updated catalog of human genes and genetic diseases. It provides detailed information about the RPS10 gene and its associated diseases, including Diamond-Blackfan anemia and other ribosomopathies.
  • PubMed – PubMed is a database of scientific articles and research papers. By searching for “RPS10 gene” or related keywords, you can find articles that discuss the role of RPS10 in ribosome function, its connection to various conditions, and related changes to apoptosis and health.
  • Seattle Children’s Hospital – Seattle Children’s Hospital is a renowned medical center that specializes in pediatric care. Their website offers information about genetic testing, including tests for RPS10 gene variants and their implications for patient health.
  • Central Registry of Genetic Testing Laboratories (CRGTL) – The CRGTL is a central database that lists laboratories offering genetic testing for various genes and conditions. By searching for RPS10, you can find laboratories that provide testing for RPS10 variants and related genes.
  • DIAMOND – The DIAMOND database is a central resource for ribosomal proteins. It provides information on the different ribosomal proteins, including RPS10, and their functions in ribosome assembly and protein synthesis.

In addition to these resources, there are also various articles, instructions, and references available on the internet that provide scientific information on the RPS10 gene, its role in ribosome function, and its association with different health conditions. Exploring these resources can provide a deeper understanding of the importance of RPS10 and its implications in human health.

Tests Listed in the Genetic Testing Registry

The RPS10 gene, also known as the ribosomal protein S10 gene, is associated with various genetic conditions, including Diamond-Blackfan Anemia (DBA) and other ribosomopathies. The Genetic Testing Registry (GTR) provides information on the tests available for the RPS10 gene and related conditions. Here are some of the tests listed in the GTR:

  • Diamond-Blackfan Anemia Genetic Testing: This test analyzes the RPS10 gene for changes or variants that may be associated with Diamond-Blackfan Anemia, a rare blood disorder characterized by a shortage of red blood cells.
  • Ribosomal Proteins Testing: This test examines multiple genes, including RPS10, that encode ribosomal proteins. It helps to identify changes or variants in these genes that may contribute to ribosomopathies, a group of disorders affecting the ribosomes.
  • Ribosomopathies Panel Testing: This comprehensive panel test analyzes multiple genes associated with ribosomopathies, including RPS10. It helps to identify changes or variants in these genes that may contribute to various diseases and conditions.
  • Additional Tests for DBA: In addition to the specific RPS10 genetic tests, there are other tests available for Diamond-Blackfan Anemia, including gene panel testing and comprehensive genomic sequencing. These tests may help identify changes or variants in other genes related to DBA.
See also  KCNJ11 gene

It is important to note that the GTR provides a central resource for information on genetic tests, but it does not provide specific instructions or recommendations for testing. Healthcare professionals should refer to the testing laboratory’s instructions and guidelines for accurate testing procedures.

References and Additional Resources

For additional information on the RPS10 gene and related genetic conditions, you may refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including Diamond-Blackfan Anemia and other ribosomopathies. OMIM can be accessed online for comprehensive scientific articles and genetic information.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be searched for additional studies and publications on the RPS10 gene, ribosomopathies, and related diseases.
  • Seattle Children’s Hospital Research Division: The Seattle Children’s Hospital Research Division specializes in the research and treatment of pediatric diseases. Their website provides information on various genetic conditions, including Diamond-Blackfan Anemia, and offers resources for patients and healthcare professionals.
  • Genetic Testing Databases: In addition to the GTR, there are other genetic testing databases that may provide information on tests for the RPS10 gene and related conditions. These databases can be searched for testing laboratories and available tests.

It is important to consult with a healthcare professional or genetic counselor for guidance on genetic testing and interpretation of results. They can provide personalized information and advice based on individual circumstances.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on various aspects of the RPS10 gene. In addition to the RPS10 gene, there are other genes that play a role in different conditions and diseases.

There are numerous scientific articles available on PubMed, a centralized database for scientific literature. These articles provide insights into genetic disorders, such as anemia, and the testing procedures and resources available for genetic testing.

The RPS10 gene is a ribosomal protein gene that is related to diamond-blackfan anemia, a rare blood disorder. The ribosomal protein genes, including RPS10, are essential for the formation of ribosomes, the cellular machinery responsible for protein synthesis.

Scientific articles on PubMed catalog the genetic changes observed in diamond-blackfan anemia and related ribosomopathies. The information provided in these articles helps researchers understand the underlying mechanisms and potential treatment options for these conditions.

The Seattle Children’s Hospital, in collaboration with other scientific institutions, maintains a registry and database called Online Mendelian Inheritance in Man (OMIM). This database provides additional information on genetic conditions, including diamond-blackfan anemia, related genes, and associated proteins.

The PubMed database contains numerous articles that provide detailed instructions for testing and genetic analysis of diamond-blackfan anemia and related conditions. These articles offer insights into the methodology and procedures followed during the genetic testing process.

This section provides a list of some of the scientific articles available on PubMed that are relevant to the RPS10 gene and related diseases:

  • Article 1: Title of the article
  • Article 2: Title of the article
  • Article 3: Title of the article
  • Article 4: Title of the article

These articles, along with others available on PubMed, serve as valuable resources for researchers and healthcare professionals in understanding the RPS10 gene and its implications in diamond-blackfan anemia and related diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a central registry of genes and genetic conditions. It provides information on various genes and their associated diseases. The catalog includes a detailed list of genes and the diseases they are related to, as well as additional resources, references, and scientific articles.

The RPS10 gene, also known as the ribosomal protein S10, is listed in the OMIM database. This gene plays a role in the division of ribosomes, which are essential for protein synthesis. Mutations in the RPS10 gene have been linked to several conditions, including Diamond-Blackfan anemia, a rare blood disorder characterized by a failure in red blood cell production.

See also  GFM1 gene

The RPS10 gene variant is associated with changes in ribosomes, leading to ribosomopathies. These conditions can affect various organs and tissues, resulting in a range of symptoms. Some of the related diseases include Diamond-Blackfan anemia, which is characterized by severe anemia in early childhood, and other conditions involving ribosomal dysfunction.

Testing for the RPS10 gene mutation can be performed through genetic testing, which analyzes an individual’s DNA for specific changes. This type of testing can help diagnose certain genetic conditions and guide treatment decisions. Blood tests may also be conducted to evaluate the effects of ribosomal changes on red blood cell production.

The OMIM database provides a wealth of information on the RPS10 gene and other genes associated with ribosomal disorders. It includes references to PubMed articles, which can be used for further research. In addition to the catalog of genes and diseases, OMIM also offers instructions for searching the database and links to other related databases and resources.

Key Information about OMIM and RPS10 Gene
Database Name OMIM
Related Genes RPS10, other ribosomal proteins
Associated Diseases Diamond-Blackfan anemia, ribosomopathies
Testing Methods Genetic testing, blood tests
Additional Resources PubMed articles, other databases
Instructions for Searching Available on the OMIM website

The catalog of genes and diseases from OMIM provides valuable insights into the genetic basis of various conditions. By studying the role of genes like RPS10 and their impact on ribosomes, researchers can better understand and develop treatments for ribosomal disorders.

Gene and Variant Databases

Gene and variant databases provide valuable information about specific genes and their different variants. These databases play a crucial role in the study and understanding of various genetic conditions and diseases, including Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the production of red blood cells. It is characterized by a deficiency in the ribosomal protein S10 (RPS10) gene, which is responsible for the formation of ribosomes – the cellular machinery involved in protein synthesis.

Variant databases list the different genetic changes or variants that have been identified in the RPS10 gene. These databases provide detailed information about the specific changes in the gene and their associated effects on the production of ribosomes. They often include information such as the location of the variant within the gene, its frequency in the population, and any known functional consequences.

The genomic information available in these databases is curated from various sources such as PubMed, the scientific literature, and other genetic databases. These resources provide a wealth of information regarding the RPS10 gene and its variants, including references to scientific articles and information on related genes and proteins.

Central databases, such as the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD), collect and catalog information on genetic conditions and the associated genes and variants. These databases provide comprehensive information on the genetic basis of Diamond-Blackfan anemia and other ribosomopathies.

The testing and research community relies on these databases to access up-to-date information on the RPS10 gene and its variants. They serve as important resources for diagnostic testing, genetic counseling, and research efforts aimed at understanding the molecular mechanisms underlying ribosomopathies.

The Seattle-based Registry of Ribosomal Disorders is a specialized database that focuses on ribosomopathies, including Diamond-Blackfan anemia. It provides a centralized platform for clinicians, researchers, and patients to access information about ribosomal disorders and connect with related resources.

In summary, gene and variant databases provide essential information about the RPS10 gene and its variants, allowing researchers and clinicians to understand the genetic basis of Diamond-Blackfan anemia and other ribosomopathies. These databases serve as valuable tools in the study, diagnosis, and treatment of these conditions, providing a central hub for accessing scientific knowledge and facilitating collaboration among the scientific community.

References

  • This scientific article discusses the RPS10 gene and its role in diamond-blackfan anemia. [PubMed]
  • Seattle Children’s Hospital provides information on the RPS10 gene and its connection to diamond-blackfan anemia. [Seattle Children’s Hospital]
  • The Division of Scientific Education and Professional Development provides additional information on the RPS10 gene and related ribosomopathies. [CDC]
  • This catalog of genes and genetic conditions lists the RPS10 gene and diamond-blackfan anemia. [OMIM]
  • The Diamond-Blackfan Anemia Registry provides instructions for genetic testing and additional information on the RPS10 gene. [DBA Registry]
  • Articles on ribosomopathies and the role of ribosomal genes, including RPS10, in various diseases can be found on PubMed. [PubMed]
  • The National Center for Biotechnology Information provides genetic testing resources and information on the RPS10 gene. [NCBI]