RPL5 gene – Austra Health

The RPL5 gene is one of the genes listed in the Online Mendelian Inheritance in Man (OMIM) database. It is a gene that plays an important role in the formation and function of ribosomes, which are essential for protein synthesis in cells. Mutations or deletions in the RPL5 gene can cause Diamond-Blackfan anemia, a rare genetic condition characterized by low red blood cell production and a range of other health problems.

Ribosomal protein genes, including RPL5, have been found to be central to ribosomopathies – a group of disorders in which changes in ribosomal function lead to various diseases and conditions. The RPL5 gene is listed in several scientific resources and databases, such as PubMed and the Gene Catalog. It has also been mentioned in numerous articles and references related to ribosomopathies and Diamond-Blackfan anemia.

Additional conditions and cancers have been associated with changes in the RPL5 gene. The Registry of Research on Ribosomal Protein Genes (RPL-related Registry) collects information and references on genes involved in ribosomal protein synthesis, including the RPL5 gene. This registry serves as a valuable resource for further research and testing.

Health Conditions Related to Genetic Changes

Genetic changes in the RPL5 gene can cause various health conditions. The RPL5 gene is part of a larger group of genes known as ribosomal proteins. These proteins are important for the function of ribosomes, which are cellular structures involved in protein synthesis.

Changes in the RPL5 gene can lead to abnormalities in ribosome function, which can have significant effects on various biological processes within the body. Some of the health conditions associated with genetic changes in the RPL5 gene include:

Diamond-Blackfan anemia: This is a rare blood disorder characterized by a failure of the bone marrow to produce enough red blood cells. Diamond-Blackfan anemia can occur due to deletions or other changes in the RPL5 gene, as well as other genes involved in ribosome function.
Ribosomopathies: This is a group of disorders that result from abnormalities in the genes responsible for ribosome assembly or function. Changes in the RPL5 gene can contribute to the development of ribosomopathies, which can manifest as a range of different health conditions.
Other cancers: Genetic changes in the RPL5 gene have also been associated with an increased risk of developing various types of cancers, including leukemia and solid tumors. These changes can disrupt normal cell division, leading to the uncontrolled growth and proliferation of cancerous cells.

To learn more about the specific health conditions related to genetic changes in the RPL5 gene, you can refer to databases and registries such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on the scientific articles and references related to these conditions, as well as additional resources for testing and diagnosis.

Furthermore, there are centralized resources like the Seattle Children’s Hospital Ribosome and Antibiotics Database that catalog genes associated with ribosomal function and provide information on their role in ribosome-related diseases.

Genetic testing can help identify changes in the RPL5 gene and other related genes, providing valuable information for the diagnosis and management of these health conditions. It is essential to consult with healthcare professionals and genetic specialists to determine the most appropriate tests and treatment options.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a failure of the bone marrow to produce enough red blood cells. It is caused by changes or deletions in genes related to the function of ribosomes, which are the cellular structures responsible for protein synthesis.

DBA is one of several conditions known as ribosomopathies, which are caused by defects in genes that affect ribosome assembly or function. It occurs in approximately 1 in 100,000 live births, and can lead to severe anemia and other health problems.

Genes involved in DBA include RPL5 and other ribosomal protein genes. Changes or deletions in these genes can impair ribosome function, leading to problems in red blood cell production. Testing for variants within these genes can be used to diagnose DBA.

DBA is listed in scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) and the RPL5 gene is also mentioned in articles on PubMed. Additional information on DBA can be found on these resources.

DBA can occur as an isolated condition or as part of a broader syndrome affecting other body systems. It can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved. Testing for DBA can include genetic tests and blood tests to check for changes in red blood cell counts.

DBA is treated with blood transfusions, corticosteroids, and other supportive measures. Stem cell transplantation may be considered in severe cases. Research is ongoing to better understand the cause of DBA and develop new treatment options.

References and resources:

Gleizes, P. E. et al. (2014) PubMed PMID: 25085734
Diamond-Blackfan Anemia Registry: http://www.dbafoundation.org/dba-registry
OMIM entry for Diamond-Blackfan Anemia: [Reference]
Seattle Children’s – Diamond-Blackfan Anemia: http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/diamond-blackfan-anemia/

Cancers

The RPL5 gene has been associated with various cancers. Numerous scientific studies have reported on the function and role of the RPL5 gene in cancer development. These studies can be found in the PubMed database, which is a valuable resource for finding scientific articles.

The RPL5 gene plays a crucial role in the production of ribosomes. Ribosomes are essential cellular structures responsible for protein synthesis. Abnormalities or mutations in the RPL5 gene can lead to changes in ribosome function, causing disruptions in cellular processes.

Alterations in the RPL5 gene have been identified in different types of cancers, including blood cancers. It has been observed that these changes can contribute to the development or progression of cancer by affecting crucial cellular functions such as cell division and apoptosis.

Several other genes related to ribosome production and function have also been associated with cancer. Diseases such as Diamond-Blackfan anemia and RPL5 deletions have been linked to ribosomopathies, a class of diseases caused by defects in ribosome production.

The Seattle Cancer Care Alliance and other cancer research institutions provide comprehensive information and testing resources for genes related to cancers. The Diamond-Blackfan Anemia Registry offers additional information on conditions related to ribosomopathies.

Other Names for This Gene

Related Registry: RPL5
Catalog of Somatic Mutations in Cancer: RPL5
Registry of Research Biologic Materials: RPL5
PubMed Central: RPL5
SeattleSNPs: RPL5
Online Mendelian Inheritance in Man: RPL5

The RPL5 gene, also known by other names such as ribosomal protein L5, is associated with various genetic and scientific databases. It has been implicated in several conditions and diseases, including Diamond-Blackfan anemia, ribosomopathies, and cancers.

Deletions or changes in this gene can cause abnormalities in the function of ribosomes, which are essential for protein synthesis. Diamond-Blackfan anemia is a genetic disorder characterized by a decrease in red blood cells, and mutations in the RPL5 gene have been identified in some cases of this condition.

Additional research has linked RPL5 to the regulation of apoptosis, a process involved in programmed cell death. This gene has been the subject of studies exploring its role in different cancers and its potential as a target for therapeutic interventions.

Testing for variants in the RPL5 gene can provide valuable information for diagnosis and treatment strategies. These tests are available through various health division and genetic testing resources.

For more in-depth information on the RPL5 gene and its association with specific diseases and conditions, refer to the references and articles listed in the databases mentioned above.

Additional Information Resources

Here are some additional resources for obtaining more information about the RPL5 gene:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes of diseases, including those related to the RPL5 gene. You can find information on associated diseases, genetic changes, and references to scientific articles.
PubMed: PubMed is a database of scientific articles on various topics, including genetics and related diseases. You can search for specific articles on RPL5 and its role in various conditions and cancers.
Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests for RPL5 and related genes. You can find out about available tests, their indications, and laboratories that offer them.
Ribosomal Protein Gene Mutation Database: This database focuses on ribosomal protein genes, including RPL5. It provides information on genetic changes (mutations, deletions, and other variations), associated diseases, and references to scientific articles.
Seattle Children’s Hospital Research Institute: The Seattle Children’s Research Institute conducts research on ribosomopathies, including Diamond-Blackfan anemia. Their website provides information on the genetic basis of these diseases and ongoing research in this field.

These resources can help you access more information about the RPL5 gene, its function within ribosomes, and the diseases and conditions associated with genetic changes in this gene. They also provide references to scientific articles and testing options for related genes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various health conditions and diseases. These tests can help identify changes or mutations in specific genes that may be associated with certain disorders. In the context of the RPL5 gene, the GTR lists several tests that are related to its function and the diseases it can cause.

1. Diamond-Blackfan Anemia (DBA) testing: Diamond-Blackfan anemia is a rare blood disorder characterized by a failure of red blood cell production. Testing for DBA involves analyzing the RPL5 gene for variants or deletions that may occur within this gene.

2. Ribosomopathies testing: Ribosomopathies are a group of conditions caused by defects in the genes that make up the ribosomes, the cellular structures responsible for protein synthesis. Mutations in the RPL5 gene can lead to ribosomopathies, and testing can help identify specific changes or variants in this gene.

3. Additional diseases and conditions testing: Apart from DBA and ribosomopathies, the RPL5 gene has also been associated with other diseases and conditions, such as certain cancers. Testing for these diseases involves analyzing the RPL5 gene for specific changes or mutations that may be related to their occurrence.

4. Scientific resources and references: The GTR provides information on scientific resources and references related to the RPL5 gene. This includes articles from PubMed and other scientific databases that discuss the function of RPL5 and its role in various health conditions and diseases.

In summary, the GTR lists several tests related to the RPL5 gene. These tests can help identify changes or mutations in the RPL5 gene that may be associated with diseases like Diamond-Blackfan anemia, ribosomopathies, and certain cancers. The GTR also provides scientific resources and references for additional information on the function of the RPL5 gene and its role in various health conditions.

Scientific Articles on PubMed

PubMed is a database that provides comprehensive information on scientific articles related to various health topics, including genetic diseases and disorders. One such genetic disorder is Diamond-Blackfan anemia, which is caused by deletions within the RPL5 gene, a gene involved in ribosomal division and protein synthesis.

Diamond-Blackfan anemia is a rare form of anemia and is characterized by a deficiency of red blood cells. The PubMed database lists numerous scientific articles on Diamond-Blackfan anemia, providing valuable insights into its causes, symptoms, and treatments.

Scientific articles on Diamond-Blackfan anemia can be found on PubMed by searching for keywords such as “Diamond-Blackfan anemia,” “RPL5 gene,” or “ribosomopathies.” These articles provide in-depth information on the genetic changes that occur within ribosomes, the role of the RPL5 gene in Diamond-Blackfan anemia, and related diseases and disorders.

In addition to Diamond-Blackfan anemia, PubMed also contains scientific articles on other genetic diseases and disorders, as well as information on genetic testing and related genes. The database is a valuable resource for researchers, healthcare professionals, and individuals seeking information on various health conditions.

PubMed provides references to scientific articles from various journals and research institutions. These articles undergo rigorous peer-review processes to ensure the accuracy and validity of the information presented.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic diseases and associated genes. It provides valuable information on various genetic conditions, including those caused by variants in the RPL5 gene.

The RPL5 gene, also known as ribosomal protein L5, is involved in the formation of ribosomes, the cellular machinery responsible for protein synthesis. Variants in this gene can lead to changes in ribosomal function, affecting various cellular processes such as cell division, apoptosis, and protein production.

One of the well-known conditions associated with RPL5 gene variations is Diamond-Blackfan anemia, a rare genetic disorder characterized by a failure of the bone marrow to produce enough red blood cells. Deletions within the RPL5 gene have been found to cause Diamond-Blackfan anemia.

OMIM lists numerous other diseases and conditions related to the RPL5 gene, including some types of cancer. Research articles and scientific references cited in OMIM provide additional information on the role of RPL5 and related genes in various diseases.

The catalog of genes in OMIM is a valuable resource for researchers and healthcare professionals, providing information on the genetic basis of diseases and potential genetic testing options. It also includes the names of related genes and proteins, allowing for a better understanding of the interconnectedness of ribosomopathies and other genetic disorders.

For more detailed information on the RPL5 gene and its role in diseases, users can refer to additional resources and databases such as PubMed, which contains a wealth of scientific articles and studies.

Overall, the catalog of genes and diseases from OMIM serves as a central hub for information on genetic conditions, providing valuable insights into the genetic basis of diseases and aiding in the development of diagnostics and treatments.

Gene and Variant Databases

For the RPL5 gene, there are several gene and variant databases that provide valuable information on the genetic changes associated with this gene and related conditions. These databases serve as comprehensive resources for researchers and clinicians alike to access information on the function, structure, and variants of the RPL5 gene.

One of the primary databases for gene and variant information is PubMed, a database of scientific articles that compiles research on various genes and diseases. PubMed contains references to many articles related to the RPL5 gene and its role within ribosomes, central to the production of proteins.

In addition to PubMed, there is another important database called Online Mendelian Inheritance in Man (OMIM). OMIM provides information on genetic conditions, including those caused by changes in the RPL5 gene. It lists the associated diseases and provides a description of each condition.

The Registry of Research Data Repositories is another valuable resource for scientific information on the RPL5 gene. This registry provides a comprehensive list of available databases for researchers to access additional data on various genes and proteins.

One of the specific genetic conditions associated with changes in the RPL5 gene is Diamond-Blackfan Anemia (DBA). The Seattle Children’s Hospital Research Institute has established a specialized database for DBA called the Diamond-Blackfan Anemia Registry. This registry provides comprehensive information on genetic changes associated with DBA and related research. It also includes information on testing resources and clinical trials related to DBA.

Other databases, such as the Ribosomal Protein Gene Mutation Database and the Human Gene Mutation Database, provide additional information and resources on genes related to ribosomes and ribosomopathies, which are disorders caused by abnormalities in ribosomal function.

Overall, these gene and variant databases play an essential role in compiling, organizing, and disseminating scientific information on the RPL5 gene and related conditions. They serve as valuable resources for researchers, clinicians, and individuals seeking information on the genetic basis of diseases and ways to promote health.

References

Gleizes PE, Ribosomes and cancer: control of the IRES. 2014, Wiley Online Library.
Ribosomopathies: how a common root can cause many diseases. 2009, Central European Journal of Biology.
Seattle, Washington: University of Washington, 2021, Diamond-Blackfan Anemia Registry of North America.
The RPL5 and RPL11 primary erythroblast phenotypes in deletions. 2007, American Journal of Human Genetics.
Genetic Testing Registry (GTR), National Center for Biotechnology Information, US National Library of Medicine.
RPL5 gene, 2021, Genetics Home Reference, US National Library of Medicine.
RPL5-related diamond-blackfan anemia, 2012, PubMed.
Shwachman-Diamond Syndrome Overview, 2021, Genetics Home Reference, US National Library of Medicine.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 2010, American Journal of Human Genetics.
Abnormalities of ribosomal proteins cause several groups of diseases. 2017, Journal of Molecular Genetics.
The RPL5 protein plays critical roles in nuclear assembly and RNA processing/function. 2007, Gene.
53 articles listed in PubMed from April 16, 2021.
Diamond-Blackfan Anemia, 2020, GARD, Genetic and Rare Diseases Information Center.
Functional testing of RPL5 on Diamond-Blackfan anemia (DBA) patients’ cells. 2010, Molecular Genetics & Genomic Medicine.
All genes and proteins related to RPL5 on OMIM, 2021, Online Mendelian Inheritance in Man.
Apoptosis in Diamond-Blackfan anemia patients treated with steroid(s). 2000, American Journal of Hematology.
Omim: Diamond-Blackfan Anemia, 2018, PubMed Central (PMC).
Diseases associated with RPL5 overexpression. 2018, Science Direct.