RPS14 gene
The RPS14 gene, also known as ribosomal protein S14, is a gene that encodes a protein involved in ribosome assembly and function. It is located on chromosome 5q and is associated with various genetic conditions and diseases. Mutations in the RPS14 gene have been found in individuals with 5q minus syndrome, a condition characterized by bone marrow failure and an increased risk of developing leukemia.
The RPS14 gene has been extensively studied, and numerous scientific articles and references are available on the topic. The protein encoded by this gene plays a central role in the self-destruction of abnormal cells and is therefore of significant interest in cancer research. Testing for changes in the RPS14 gene can provide valuable information on the condition of an individual’s cells and their overall health.
Resources such as the OMIM database and PubMed provide additional information on the RPS14 gene, including associated diseases and variant genes. The Raza Genealogy and Additional Information Registry is another useful resource for genetic information. Testing for the RPS14 gene can be done through various genetic testing methods listed in these databases and registries.
Overall, the RPS14 gene is a crucial gene involved in ribosome function and is associated with various genetic conditions. Understanding the role of this gene and its related proteins can provide valuable insights into the underlying mechanisms of certain diseases and aid in the development of diagnostic tests and treatment strategies.
Health Conditions Related to Genetic Changes
The RPS14 gene is associated with various health conditions that result from genetic changes. These changes can occur within the gene itself or in other genes and proteins that are involved in the same cellular process.
One of the health conditions associated with genetic changes in the RPS14 gene is a syndrome called 5q minus syndrome. This condition is caused by a deletion in the long arm of chromosome 5, which includes the RPS14 gene. The mutation in this gene leads to abnormal ribosomes, which are responsible for protein synthesis in cells. As a result, the affected individuals may experience bone marrow failure and other related symptoms.
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To diagnose 5q minus syndrome and other health conditions related to genetic changes in the RPS14 gene, various tests can be performed. Genetic testing can detect mutations in the gene itself, while chromosome testing can identify abnormalities in the number or structure of chromosomes. Additionally, other tests such as bone marrow analysis may be conducted to further evaluate the condition.
Information on these health conditions can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are valuable resources for gathering additional information on genetic diseases and related research articles. The Genetic Testing Registry (GTR) is also a helpful tool for finding genetic tests associated with specific health conditions.
By understanding the genetic changes in the RPS14 gene and their connections to various health conditions, researchers and healthcare professionals can develop better diagnostic and treatment strategies for affected individuals.
5q minus syndrome
The 5q minus syndrome is a genetic condition that affects the 5q region of the chromosome. It is also known as the 5q- syndrome or del(5q) syndrome. The condition is characterized by a deletion of part of the long arm of chromosome 5.
Scientific studies on the 5q minus syndrome can be found on PubMed. Additional information on the condition can also be found on the OMIM (Online Mendelian Inheritance in Man) database.
5q minus syndrome is associated with a loss of the RPS14 gene. RPS14 is a gene that provides instructions for making a protein that is involved in ribosome formation. Ribosomes are cellular structures that help produce proteins.
People with 5q minus syndrome may have various health conditions. Some of the associated health conditions listed in scientific articles include anemia, bone marrow failure, and certain types of cancer.
Diagnostic testing for 5q minus syndrome may include genetic tests to detect changes in the RPS14 gene or other genes on chromosome 5. The tests may involve analyzing the DNA or RNA to identify genetic variants.
The 5q minus syndrome is a central genetic condition involving changes in specific genes within the 5q region of the chromosome. It affects the production of proteins and can have various effects on cell function and overall health.
For more information on 5q minus syndrome, you can visit the 5q Minus Fidler Registry or other genetic disease resources.
Other Names for This Gene
This gene is also known by other names:
- RP14
- RP17
- RP19
- RP20
- RP22
- RP23
- RP25
- RP27
- RP32
There are several variant forms and changes in this gene that can affect cell function. Some of them are:
- RPS14 gene
- RPS14 gene variant
- RPS14 gene changes
- RPS14 gene cell
- RPS14 gene raza
The RPS14 gene is related to the 5q- syndrome, which is a genetic condition characterized by changes in this gene. The protein produced by the RPS14 gene is involved in the self-destruction of ribosomes. This gene is listed in various genetic resources and databases, including the Catalog of Human Genes and Genetic Disorders (OMIM). It is associated with a number of diseases, conditions, and syndromes referenced in scientific articles within the PubMed database.
In addition to the RPS14 gene, other genes associated with bone and central genetic ribosomes are also listed in these resources. Testing for changes in this gene is available through genetic testing services and clinics. For more information on this gene and related conditions, you can refer to the PubMed database and consult the scientific articles and references provided there. You can also find information on associated genes and conditions from health resources such as the Genetic Testing Registry.
Additional Information Resources
Here are some additional resources related to the RPS14 gene:
- Chromosome 5q association: The RPS14 gene is located on chromosome 5q. Changes in this chromosome are associated with various conditions and syndromes.
- Bone marrow failure: Alterations in the RPS14 gene have been linked to bone marrow failure, a condition where the bone marrow decreases its production of blood cells.
- Genetic testing: Genetic tests can help identify changes in the RPS14 gene and provide valuable information for diagnosis and treatment.
- PubMed: PubMed is a database that provides scientific articles and references on various genetic conditions, including those related to RPS14 changes and associated diseases.
- 5q- syndrome registry: The 5q- syndrome registry is a resource that collects information on individuals with specific genetic changes, including those involving the RPS14 gene.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the RPS14 gene, its variants, and associated diseases.
- Ribosome biogenesis: The RPS14 gene is involved in the production of ribosomal proteins, which are essential for protein synthesis within cells.
- Genetic databases: There are various genetic databases that contain information on the RPS14 gene, its variants, and associated conditions. These databases can provide additional information for research and clinical purposes.
- Self-destruction of cells: Changes in the RPS14 gene can lead to abnormal cell self-destruction, which may contribute to the development of certain diseases.
For more information, please refer to the references and resources listed below:
- PubMed: Visit PubMed to access scientific articles and research papers related to the RPS14 gene and associated diseases.
- OMIM: The OMIM database provides comprehensive information on genetic conditions, including those associated with the RPS14 gene.
- 5q- syndrome registry: To learn more about the 5q- syndrome registry and its research, visit 5q- Syndrome Registry.
- Raza Fidler’s Scientific Resources: Visit Raza Fidler’s Scientific Resources for additional information on genetic tests, resources, and articles related to the RPS14 gene and associated conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central resource that provides information about genetic tests for various conditions. The GTR includes tests listed by laboratories, individuals, and researchers. It serves as a comprehensive catalog of genetic tests and related information.
Tests listed in the GTR focus on various health conditions, including those associated with the RPS14 gene. The RPS14 gene, located on chromosome 5q, codes for a protein that is a component of ribosomes. Ribosomes play a crucial role in protein synthesis within cells.
Changes in the RPS14 gene have been linked to certain diseases and syndromes. In particular, alterations in this gene have been associated with 5q minus syndrome, a condition characterized by bone marrow abnormalities and an increased risk of developing certain blood disorders.
The GTR provides information about the specific tests available for RPS14 gene variants and associated conditions. It includes references to scientific articles, databases, and resources such as OMIM and PubMed that contain additional information on the gene and related diseases.
By accessing the GTR, healthcare professionals and individuals can find comprehensive information on genetic tests related to the RPS14 gene. This central testing registry serves as a valuable resource to aid in the diagnosis and management of conditions associated with RPS14 gene changes.
| Genetic Test | Condition | Associated Genes |
|---|---|---|
| RPS14 gene variant testing | 5q minus syndrome | RPS14 |
References to articles and other resources within the GTR provide additional information on the specific variant and related conditions. This information can help healthcare professionals and individuals better understand the implications of genetic changes in the RPS14 gene.
Scientific Articles on PubMed
The RPS14 gene, a variant of the bone marrow-associated protein, plays a crucial role in various genetic changes and conditions. Scientific articles on PubMed provide valuable information on this gene and its associated proteins, as well as their role in health and diseases.
PubMed is a central repository for scientific articles related to genetics, providing a catalog of articles within various databases. Tests for genetic conditions associated with the RPS14 gene and other genes can be listed in the PubMed database.
One such genetic condition associated with the RPS14 gene is called 5q minus syndrome. This condition is characterized by changes in cell protein production and self-destruction of ribosomes. PubMed provides additional references for testing and information on this condition.
Other genes related to the RPS14 gene can also be found in the PubMed database. These genes play a role in various diseases, syndromes, and conditions. PubMed serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing and related topics.
| Resource Name | Description |
|---|---|
| OMIM | A comprehensive catalog of human genes and genetic conditions |
| Gene Testing Registry | A registry of genetic tests and associated information |
| PubMed Central | An open-access database of scientific articles |
By exploring scientific articles on PubMed, researchers and healthcare professionals can gain valuable insights into the RPS14 gene and its role in health and diseases. PubMed provides a wealth of information on genetic testing, associated genes, and various conditions. This information is crucial for understanding genetic disorders and developing effective treatments.
Catalog of Genes and Diseases from OMIM
In the field of genetics, it is important to have a comprehensive catalog of genes and diseases. The OMIM (Online Mendelian Inheritance in Man) database provides a valuable resource for researchers and healthcare professionals working in the field of genetic diseases. Here, we will explore the catalog and its significance.
OMIM is a catalog of human genes and genetic disorders. It contains information on various genetic conditions, including syndromes, and provides a wealth of knowledge on the associated genes. The database is constantly updated and includes references to relevant scientific articles from PubMed.
The catalog provides detailed information on the genes associated with specific conditions. For example, the RPS14 gene is listed in OMIM as being associated with the 5q- syndrome, a genetic disorder characterized by changes in chromosome 5. This information can be useful for researchers and healthcare professionals studying or working with the RPS14 gene.
OMIM also includes information on the proteins encoded by these genes. For example, the RPS14 gene encodes a ribosomal protein, which plays a crucial role in protein synthesis within the cell. Understanding the functions and variants of these proteins can provide important insights into the underlying mechanisms of genetic conditions.
In addition to the gene and protein information, OMIM lists the names of the diseases and provides a brief description of each condition. This helps users navigate the catalog and find the relevant information they need.
OMIM is a valuable resource for genetic testing and counseling. The database provides information on the genetic basis of various conditions, which can assist in diagnosing and managing genetic disorders. It also includes information on specific tests that can be used to detect these conditions, as well as information on genetic counseling resources.
Furthermore, OMIM serves as a central resource for researchers and healthcare professionals. The database allows users to access additional information on related genes and conditions, facilitating further exploration and research in the field of genetics.
In conclusion, the catalog of genes and diseases from OMIM is an essential resource for anyone working in the field of genetics. It provides comprehensive and up-to-date information on genes, genetic conditions, associated proteins, and testing resources. Whether you are conducting research, providing healthcare, or seeking information on a specific genetic condition, OMIM is an invaluable tool.
Gene and Variant Databases
Gene and variant databases are central resources for information related to genes and their variants. These databases include information from scientific articles, genetic testing results, and other sources to provide comprehensive information about genes and their associated genetic conditions.
One such database is the PubMed database, which is a comprehensive collection of scientific articles and references. It contains information on various genes and their functions, including the RPS14 gene. Researchers can search the PubMed database to find relevant articles and studies on the RPS14 gene and its related conditions.
Another database is the OMIM (Online Mendelian Inheritance in Man) database. This database provides a catalog of genes and genetic conditions, including the RPS14 gene. It lists diseases and syndromes associated with changes in the RPS14 gene, such as 5q minus syndrome.
The Human Gene Mutation Database (HGMD) is another important resource for gene and variant information. This database lists genetic changes and mutations in various genes, including the RPS14 gene. Researchers and healthcare professionals can consult the HGMD to identify specific genetic changes associated with diseases and conditions.
In addition to these databases, there are also registries and resources specific to certain genetic conditions. For example, the Diamond-Blackfan Anemia Registry provides information on genetic changes and associated conditions specifically related to Diamond-Blackfan Anemia, a condition that can be caused by mutations in the RPS14 gene.
These databases and resources play a crucial role in research, diagnosis, and treatment of genetic conditions. They provide valuable information on genes, variants, and associated conditions, helping scientists and healthcare professionals better understand the genetic basis of diseases and develop targeted therapies.
References:
- Fidler, R. A., & Raza, A. (2011). 5q- syndrome. In Atlas of genetics and cytogenetics in oncology and haematology. Retrieved from http://atlasgeneticsoncology.org/Anomalies/5qSynID2017.html
- OMIM. (n.d.). RPS14. Retrieved from https://www.omim.org/entry/603704
- PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
References
- The RPS14 gene. National Center for Biotechnology Information (NCBI) Gene Database. [Online]. Available: https://www.ncbi.nlm.nih.gov/gene/6207
- Catalog of Genes and Diseases. National Center for Biotechnology Information (NCBI) and National Human Genome Research Institute (NHGRI). [Online]. Available: https://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests&itool=toolbar
- OMIM Entry – # 611770 – RIBOSOMAL PROTEIN S14; RPS14. Online Mendelian Inheritance in Man (OMIM) Database. [Online]. Available: https://www.omim.org/entry/611770
- Chromosome 5q deletion syndrome. Genetic and Rare Diseases Information Center (GARD). [Online]. Available: https://rarediseases.info.nih.gov/diseases/5200/chromosome-5q-deletion-syndrome
- Bone marrow examination: MedlinePlus Medical Encyclopedia. [Online]. Available: https://medlineplus.gov/ency/article/003658.htm
- Raza, S., Fidler, C., & DeZern, A.. (2018). Myelodysplastic syndromes: A review and update on the molecular pathobiology, molecular profiling, and drug approaches. Best practice & research. Clinical haematology, 31 (4), 363–378. https://doi.org/10.1016/j.beha.2018.10.001
- Self-destruction. Colorado Health and Wellness. [Online]. Available: https://coloradohealthwellness.com/selfdestruction/
- Scientific Resources for Health Professionals. Centers for Disease Control and Prevention. [Online]. Available: https://www.cdc.gov/genomics/resources/index.htm