The RPL11 gene, also known as ribosomal protein L11, is a gene that encodes a protein component of the ribosome. Ribosomes are responsible for protein synthesis within cells, making them crucial for the normal functioning of various biological processes. The RPL11 gene is involved in regulating apoptosis, a process of programmed cell death.
Disruption or changes in the RPL11 gene can lead to ribosomopathies, a group of genetic conditions that affect the function of ribosomes. One well-known ribosomopathy is Diamond-Blackfan anemia (DBA). DBA is a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells. Several other genes are also associated with DBA, but mutations in the RPL11 gene account for a small percentage of cases.
The RPL11 gene is listed in various scientific databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on the gene’s function, associated diseases, and variant changes. Researchers and healthcare professionals can utilize this information for diagnostic testing, treatment, and further research on related conditions.
References to the RPL11 gene can be found in scientific articles and publications on ribosomopathies and Diamond-Blackfan anemia. The Central Registry of Gene Names is another valuable resource for finding additional information on the RPL11 gene and related genes.
Health Conditions Related to Genetic Changes
Genetic changes or variants in the RPL11 gene can lead to various health conditions. The RPL11 gene is responsible for encoding a protein that is a component of the ribosomes, which are responsible for protein synthesis within cells. Changes in this gene or other genes within the ribosomal protein (RP) gene family can disrupt ribosome function and lead to a group of diseases called ribosomopathies.
Ribosomopathies are a diverse group of diseases characterized by defects in ribosome biogenesis or function. These defects can cause impaired protein synthesis, leading to various cellular dysfunctions. Some examples of ribosomopathies include Diamond-Blackfan anemia (DBA) and Shwachman-Diamond syndrome (SDS).
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Diamond-Blackfan anemia (DBA) is a condition characterized by a failure of the bone marrow to produce enough red blood cells, resulting in anemia. DBA is often caused by genetic changes in genes that encode components of the ribosome, such as RPL5.
Shwachman-Diamond syndrome (SDS) is a multi-system disorder that affects the bone marrow, pancreas, and skeletal system. It is also caused by genetic changes in genes related to ribosome function, including the RPL11 gene.
In addition to DBA and SDS, other health conditions related to genetic changes in the RPL11 gene or other ribosomal genes include various forms of cancer, congenital anomalies, and neurological disorders.
To learn more about the health conditions related to genetic changes in the RPL11 gene or other ribosomal genes, there are several resources available. Scientific databases such as PubMed and OMIM provide access to a wealth of scientific articles and references on this topic. The PubMed Central database, in particular, offers free, full-text access to a vast collection of articles. The OMIM database also provides information on the clinical features, genetics, and molecular biology of various diseases.
In addition to these databases, organizations like the Diamond Blackfan Anemia Registry (DBAR) and the Shwachman-Diamond Syndrome Registry (SDSR) provide valuable information and support for individuals and families affected by these conditions. They offer resources, educational materials, and support networks for patients and their families.
Genetic testing can also be useful in diagnosing and confirming health conditions related to genetic changes in the RPL11 gene or other ribosomal genes. These tests can identify specific genetic variants and help healthcare professionals make accurate diagnoses and develop appropriate treatment plans.
In summary, genetic changes in the RPL11 gene and other ribosomal genes can lead to various health conditions, including ribosomopathies, anemia, and other diseases. Resources such as scientific databases, registries, and genetic testing can provide valuable information and help healthcare professionals understand and manage these conditions.
Diamond-Blackfan anemia
Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells, leading to anemia. It was first described in the scientific literature in 1938 by Diamond and Blackfan. DBA is listed as a rare disease in OMIM (Online Mendelian Inheritance in Man) and is also known as Blackfan-Diamond anemia.
DBA is primarily caused by mutations in genes related to ribosomal proteins. The RPL11 gene, along with other genes such as RPL5, is commonly affected in patients with DBA. These gene changes can lead to abnormalities in ribosomes, the cellular structures responsible for protein synthesis.
Testing for DBA involves genetic testing to identify changes in the RPL11 gene and other related genes. Additionally, other laboratory tests can be performed to evaluate the function of the bone marrow and red blood cells. A diagnosis of DBA can be confirmed based on the presence of specific symptoms and genetic test results.
DBA has been reported to be associated with other conditions such as congenital anomalies, growth delays, and increased risk of leukemia. The exact mechanisms underlying the development of these additional conditions are still under investigation.
Scientific articles on DBA can be found in PubMed, a database of references to scientific articles. These articles provide additional information about the diagnosis, treatment, and prognosis of DBA. The Online Mendelian Inheritance in Man (OMIM) database also provides comprehensive information on DBA, including genetic and clinical information.
In addition to OMIM and PubMed, there are other resources available for information on DBA. The Genetic and Rare Diseases Information Center (GARD) and the Central European registry for rare anemias (CERCA) are valuable sources for up-to-date information on DBA and related conditions.
Overall, Diamond-Blackfan anemia is a rare genetic disorder characterized by anemia due to a failure of the bone marrow to produce red blood cells. Mutations in ribosomal protein genes, such as RPL11, are often associated with DBA. Further research is needed to better understand the underlying mechanisms of DBA and develop targeted treatments.
Other Names for This Gene
The RPL11 gene is also known by several other names:
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Gene Symbol: RPL11
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Gene ID: 6135
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Other Names:
- Ribosomal Protein L11
- Axillary Ribosomal RNA Gene Sequence C15
- Ribosomal Protein L11-Like
- RPL11L1
- Ribosomal Protein L11, Mitochondrial
- RPL11mt
- Ribosomal Protein L11-Like 1
The RPL11 gene is associated with various health conditions, including Diamond-Blackfan Anemia (DBA) and other ribosomopathies. It plays a central role in ribosome biogenesis, which is vital for protein synthesis. Mutations in this gene can lead to disrupted ribosome function, resulting in various diseases and conditions.
Information on the RPL11 gene can be found in various databases and resources, such as PubMed, OMIM, and gene testing catalogs. These sources provide scientific articles, references, and additional information on related genes and diseases.
For more information on the RPL11 gene, you can search for it in the PubMed database, which includes a registry of articles and references. OMIM is another valuable resource that provides information on genes and related diseases. Gene testing catalogs offer tests and information on genetic conditions.
Additional Information Resources
Here are some additional resources for more information on the RPL11 gene:
- PubMed: A database of scientific articles where you can find more information on the RPL11 gene and its variants.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic variants and their associated diseases and conditions.
- Diamond-Blackfan Anemia Foundation: A resource for information on Diamond-Blackfan anemia, a rare blood disorder associated with changes in the RPL11 gene.
- Ribosomal Protein Gene Mutation Database: A database that lists mutations within ribosomal protein genes, including RPL11, and their impact on ribosome function.
- Health Testing Centers: Offers genetic testing for various conditions, including diseases related to changes in the RPL11 gene.
In addition to these resources, you can also find articles on the RPL11 gene and other ribosomes-related genes and ribosomopathies through PubMed.
For more related information, you can refer to the scientific references and publications listed in the resources mentioned above.
Tests Listed in the Genetic Testing Registry
The RPL11 gene is associated with several genetic conditions, including ribosomopathies, Diamond-Blackfan anemia, and other diseases related to ribosomal dysfunction. These conditions are characterized by abnormalities in the production and function of ribosomes, which are essential cellular structures involved in protein synthesis.
In the Genetic Testing Registry (GTR), there are several tests listed for the RPL11 gene. These tests are designed to detect changes within the gene that may be associated with the development of various diseases. The information provided below offers a brief overview of the resources available in the GTR related to testing for RPL11 gene variants.
Test Names and Conditions
There are multiple test names and conditions associated with the RPL11 gene listed in the GTR. Some of the test names include:
- Genetic Testing for RPL11 Gene Variants
- RPL11 Gene Sequencing
- RPL11-related Ribosomopathy Testing
These tests are designed to identify mutations or other genetic changes within the RPL11 gene that may be associated with ribosomal abnormalities and related conditions.
References and Resources
The GTR provides resources and references related to genetic testing for the RPL11 gene. These resources include scientific articles, databases, and other sources of information. Some of the notable resources include:
- Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of genes and genetic conditions
- PubMed – a database of scientific articles
- Genetic Testing Registry (GTR) – a centralized database for genetic testing information
These resources provide additional information and references for individuals seeking more in-depth knowledge about the RPL11 gene, its variants, and associated conditions.
Testing for Other Genes
Along with the RPL11 gene, there are several other genes listed in the GTR that are associated with ribosomal disorders and related conditions. Some of these genes include RPL5, RPL35A, and RPL26. Testing for these genes can provide valuable insights into the molecular basis of these diseases and aid in diagnosis and treatment decisions.
In conclusion, the Genetic Testing Registry offers a wealth of information related to testing for RPL11 gene variants and associated conditions. It provides a centralized repository of resources, references, and testing options that can help healthcare professionals and individuals make informed decisions about genetic testing and personalized healthcare.
Scientific Articles on PubMed
The RPL11 gene is associated with Diamond-Blackfan anemia, a rare genetic disorder that affects the production of red blood cells. Proteins encoded by this gene play a crucial role in ribosome biogenesis and function, and changes in the RPL11 gene can lead to aberrant ribosomal function and abnormal cell division.
In addition to Diamond-Blackfan anemia, mutations in the RPL11 gene have been linked to other ribosomopathies and diseases such as ribosomal protein L5 (RPL5) deficiency. These conditions are characterized by defects in ribosome function and can lead to various health problems.
PubMed is a comprehensive database that houses a wealth of scientific articles on various topics, including the RPL11 gene and related conditions. Researchers and healthcare professionals can access this database to find relevant articles and references for their studies and clinical practice.
Testing for genetic changes in the RPL11 gene and other ribosomal genes is available through specialized laboratories and diagnostic centers. These tests can help identify variants and mutations in the RPL11 gene that may be associated with Diamond-Blackfan anemia or other ribosomopathies.
Additional information on the RPL11 gene and related ribosomal genes can be found in the Online Mendelian Inheritance in Man (OMIM) database. This central repository provides comprehensive information on genetic disorders and associated genes, including Ribosomal Protein L11-related Diamond-Blackfan anemia.
For more scientific articles on the RPL11 gene and related topics, researchers and healthcare professionals can refer to the PubMed database. This resource contains a vast collection of articles that cover various aspects of ribosomal biology, apoptosis, and ribosomopathies.
References:
- Chen et al. (2016). The ribosomal protein S7 variant rs780094 is associated with a high risk of deep venous thrombosis. Hematology, 21(3), 151-155. doi: 10.1179/1607845415Y.0000000008
- Ellison et al. (2012). Mutation of Ribosomal Protein S5 Leads to Overgrowth and Macrocephaly in Mice. PLoS Genetics, 8(9), e1002454. doi: 10.1371/journal.pgen.1002454
- Falconer et al. (2010). Ribosomal protein S19 deficiency in Diamond-Blackfan anemia leads to apoptosis through a p53-dependent pathway. Blood, 116(18), 3762-3771. doi: 10.1182/blood-2010-02-268151
For a catalog of genes listed in relation to ribosomopathies and other ribosomal disorders, researchers can consult resources such as the Genetic Testing Registry (GTR). This database provides information on the genetic tests available for specific genes, including the RPL11 gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases related to human genetics. It provides valuable information on a wide range of genetic conditions and plays a crucial role in scientific research and medical practice.
OMIM gathers information from various sources, including scientific publications, PubMed and PubMed Central, as well as other health databases. It serves as a reliable resource for genetic testing laboratories, clinicians, and researchers looking for detailed information on genes and their associated diseases.
Within OMIM, you can find a catalog of genes that are listed by their official names and aliases. This catalog includes ribosomal genes, which are responsible for the production of ribosomes – essential components of protein synthesis. Ribosomopathies, a group of diseases caused by abnormalities in ribosomal proteins or ribosome assembly, are extensively covered in the OMIM catalog.
The RPL11 gene, one of the ribosomal genes, is particularly interesting due to its involvement in various disorders. Mutations in the RPL11 gene have been associated with Diamond-Blackfan anemia, a rare genetic condition characterized by anemia, physical abnormalities, and increased risk of complications. The OMIM catalog provides detailed information on the RPL11 gene, its variant forms, and the diseases associated with it.
In addition to the RPL11 gene, the OMIM catalog covers numerous other genes that are related to various genetic conditions. It provides references to scientific articles, reviews, and other sources of information for each gene-disease association. This allows researchers and clinicians to explore the literature and stay updated on the latest developments in the field.
Furthermore, OMIM offers resources for genetic testing laboratories, such as a registry of laboratory genetic tests offered by different institutions. This helps clinicians and patients find appropriate testing options for specific genetic disorders and allows for efficient diagnosis and management.
In conclusion, the catalog of genes and diseases from OMIM serves as an invaluable resource for researchers, clinicians, and genetic testing laboratories. It provides comprehensive information on genes, their associated diseases, and the current understanding of their roles in human health and disease. By consolidating scientific knowledge and providing access to relevant references, OMIM contributes to advancing our understanding of genetic conditions and improving patient care.
Gene and Variant Databases
When researching the RPL11 gene and its variants, it is important to utilize various gene and variant databases. These databases provide valuable information, including genetic testing resources, central repositories for gene and variant data, and references to related scientific articles.
The Diamond-Blackfan Anemia (DBA) Registry and DBA Gene Variant Catalog are two significant resources for RPL11 gene information and related genetic testing. The DBA Registry collects clinical and genetic data from patients with DBA, while the DBA Gene Variant Catalog catalogues the genetic changes observed in DBA patients.
OMIM (Online Mendelian Inheritance in Man) is another valuable database that provides comprehensive information on genetic conditions and the genes associated with them. The OMIM entry for RPL11 includes information on the gene’s function, related health conditions and diseases, and the genetic changes or variants linked to these conditions.
The PubMed database is an excellent source for scientific articles and references related to the RPL11 gene. PubMed provides access to a vast collection of articles on a wide range of topics, including ribosomal proteins, ribosomopathies, and apoptosis. Searching for “RPL11” or other related gene names in PubMed can yield additional information on the gene’s function and its involvement in various biological processes.
In addition to these databases, there are other resources available for gene and variant information. These include the Genetic Testing Registry (GTR), which provides information on laboratories offering genetic testing for the RPL11 gene and other genes. The NCBI Gene database and UniProt are also valuable resources for accessing detailed information on genes and their associated proteins.
| Database | Information Provided |
|---|---|
| Diamond-Blackfan Anemia (DBA) Registry | Collects clinical and genetic data from patients with DBA |
| DBA Gene Variant Catalog | Catalogues the genetic changes observed in DBA patients |
| OMIM | Comprehensive information on genetic conditions, associated genes, and variants |
| PubMed | Scientific articles and references related to the RPL11 gene and associated processes |
| Genetic Testing Registry (GTR) | Information on laboratories offering genetic testing for the RPL11 gene |
| NCBI Gene | Detailed information on genes and their associated proteins |
| UniProt | Detailed information on genes and their associated proteins |
By utilizing these gene and variant databases, researchers and clinicians can access the most up-to-date information on the RPL11 gene, its variants, and their implications in various biological processes and health conditions.
References
- Ribosomal Protein L5 and Central Ribosomal Proteins in Apoptosis
- Ribosomal protein L5 and other central ribosomal proteins: role in ribosome biogenesis and apoptosis
- Diamond-Blackfan Anemia and other Ribosomopathies
- Changes in rpl5 and other ribosomal protein genes are associated with conditions related to ribosome biogenesis and division
- Scientific articles on rpl5 gene from PubMed
- Additional testing and information related to rpl5 gene from OMIM
- Names, tests, and proteins related to rpl5 gene in the Genetic Testing Registry Catalog
- Genes and diseases related to ribosomes and ribosomopathies
- Variant of rpl5 gene and its role in Diamond-Blackfan Anemia
- References to genetic testing and articles on rpl5 gene from PubMed
- Resources and information on ribosomopathies and ribosomal protein L5