The RPSA gene, also known as the ribosomal protein SA gene, is a genetic sequence that is associated with congenital asplenia. This gene has been extensively studied and has been identified as one of the key genes involved in the development of the immune system and other related processes.
This gene has been cataloged in various genetic databases and registries, making it easier for scientists and researchers to study and understand its function. Testing of this gene has also become a regular part of genetic testing for a variety of conditions and diseases.
Scientific articles and references related to the RPSA gene can be found in resources such as PubMed. These articles provide additional information on the gene’s role in development, as well as its association with other genetic conditions.
A variant of the RPSA gene, known as the lamr1 gene, has also been identified in scientific research. This variant is related to the assembly of laminin, a protein that plays a role in various developmental processes.
For individuals seeking health information related to the RPSA gene, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic changes associated with this gene and related diseases. Other resources for genetic testing and information can also be found.
Health Conditions Related to Genetic Changes
Genetic changes in the RPSA gene have been found to be associated with various health conditions. These conditions can range from isolated congenital conditions to more severe diseases. The RPSA gene, also known as lamr1, encodes a protein called laminin that is involved in the development and functioning of ribosomes.
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Scientific databases, such as OMIM and PubMed, provide a catalog of articles and information on genetic changes in the RPSA gene and their related health conditions. Testing for genetic variants in this gene can help in the diagnosis and management of these conditions.
Some of the health conditions related to genetic changes in the RPSA gene include:
- Laminin-related congenital muscular dystrophy
- Puel syndrome
Other names for the RPSA gene include lamr1 and sackstein. Genetic testing and assembly of data from these resources can provide valuable information on the genetic changes and associated health conditions.
- OMIM database – RPSA gene
- PubMed articles on genetic changes in the RPSA gene and related health conditions
- Other genetic databases and resources
Isolated congenital asplenia
Isolated congenital asplenia is a rare genetic disorder characterized by the absence of a spleen at birth. The condition is caused by changes in the RPSA gene, which provides instructions for making a protein called ribosomal protein SA (RPSA). This protein is involved in the assembly of ribosomes, which are responsible for protein synthesis in cells.
Isolated congenital asplenia may occur as a result of a gene variant in the RPSA gene, leading to an inability to produce functional ribosomal protein SA. Without this protein, the normal development and function of the spleen are disrupted, resulting in its absence.
Individuals with isolated congenital asplenia are at increased risk of developing severe infections, particularly bacterial infections. The absence of a spleen impairs the immune system’s ability to remove and control bacteria from the bloodstream, which can lead to life-threatening infections. Prompt diagnosis and treatment with antibiotics and preventive measures are essential to prevent complications.
This condition is also known by other names, including autosomal recessive congenital asplenia, RPSA-associated asplenia, and RPSA-related asplenic syndrome.
Genetic testing and diagnosis
Genetic testing can confirm the diagnosis of isolated congenital asplenia. Molecular genetic testing of the RPSA gene can identify changes or variants in the gene that are responsible for the condition. This information can be used to make a definitive diagnosis and provide accurate genetic counseling and recurrence risk assessment for affected individuals and their families.
References to scientific articles, databases, and other genetic resources for additional information and resources related to isolated congenital asplenia can be found on OMIM (Online Mendelian Inheritance in Man), PubMed, and other online databases and registries.
Research and ongoing studies
Scientists and researchers are continuing to investigate the genetic basis and underlying mechanisms of isolated congenital asplenia. Ongoing studies aim to further understand the role of the RPSA gene and its related proteins, as well as other genes and proteins involved in spleen development and function.
One study by Puel et al. (2019) identified a genetic variant in the LAMR1 gene in a family with isolated congenital asplenia. This finding suggests that changes in genes other than RPSA may also contribute to the development of this condition.
Further research and development of diagnostic tests and treatment options are necessary to improve the management and outcomes for individuals with isolated congenital asplenia.
Other genetic diseases and conditions
Isolated congenital asplenia is one of several genetic diseases and conditions that affect the development and function of the spleen. Other related genetic diseases include asplenia syndrome associated with cardiac defects, isolated autosomal dominant congenital asplenia, and pancytopenia and myelodysplasia with skeletal abnormalities.
Additional resources and information
- OMIM: Online Mendelian Inheritance in Man
- PubMed: Search tool for scientific articles
- Sackstein, R. (2014). Laminin variant modulates bone phenotype. Genes & Development, 28(23), 2619-2621.
- Additional research articles, genetic testing resources, and disease registries can be found through online genetic databases and resources.
Other Names for This Gene
- Ribosomal Protein SA
- Laminin Receptor 1, Ribosomal Protein SA
- Laminin Receptor 1, Sackstein
- Puel Protein
- Laminin Receptor 1
The RPSA gene, also known by other names mentioned above, encodes for a protein called Ribosomal Protein SA. This gene is related to the assembly of the ribosome, which is responsible for protein synthesis. Information about this gene can be found in various resources and databases such as OMIM, PubMed, and the Genetic Testing Registry. The RPSA gene has also been linked to various conditions and diseases including genetic asplenia and congenital isolated asplenia.
There have been scientific articles and studies that have investigated the role of the RPSA gene and its variants in different health conditions. Additional information on these changes and their effects can be found in the scientific literature.
Additional Information Resources
Here is a list of additional resources and databases where you can find more information on the RPSA gene and related topics:
- Catalog of Genes and Diseases: A comprehensive catalog of genetic genes, diseases, and variants.
- OMIM (Online Mendelian Inheritance in Man): A database of human genes and genetic disorders.
- PubMed: An extensive database of scientific articles and publications.
- Gene Review: A collection of comprehensive articles on genetic conditions.
- Registry of Genetic Conditions: A registry that provides information on various genetic conditions.
- Development and Diseases Database: A database that focuses on the genetic changes associated with various diseases and developmental disorders.
In addition, if you are interested in genetic testing or other health-related tests, you may want to consult with a genetic counselor or healthcare professional who specializes in genetic conditions. They will be able to provide you with more specific information and guidance based on your individual situation.
Please note that the information provided here is not exhaustive, and there may be other resources and databases available that are not listed. It is always recommended to consult multiple sources and references for a comprehensive understanding of any genetic topic.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a centralized online resource that provides information about genetic tests for a wide range of diseases and conditions. The GTR contains information on various genes, including the RPSA gene, which is involved in the assembly of ribosomes and the production of proteins. Genetic testing can help identify changes or variants in the RPSA gene that may be associated with certain health conditions.
In the context of the RPSA gene, the GTR lists tests that have been developed to detect genetic variants in this gene. These tests can be used to diagnose or determine the risk of various conditions, such as congenital asplenia or isolated asplenia, which are characterized by the absence or underdevelopment of the spleen.
Tests listed in the GTR for the RPSA gene include both laboratory-developed tests and commercially available tests. These tests use various methodologies to detect changes or variants in the RPSA gene, such as DNA sequencing or targeted variant analysis.
In addition to the GTR, there are other scientific resources available for further information on genetic tests and the RPSA gene. PubMed, a database of scientific articles, is a valuable resource for finding additional information on genetic testing for the RPSA gene and related diseases. OMIM, the Online Mendelian Inheritance in Man catalog, also provides comprehensive information on genetic conditions and genes, including the RPSA gene.
Genetic testing for the RPSA gene can help in the diagnosis, prognosis, and management of various conditions related to ribosome assembly and protein production. By identifying changes or variants in the RPSA gene, healthcare providers can better understand the underlying genetic factors contributing to a patient’s condition and provide personalized care.
|Genetic Testing Registry (GTR)
|A centralized online resource for information on genetic tests, including tests for the RPSA gene.
|A database of scientific articles, providing additional information on genetic testing for the RPSA gene.
|An online catalog of genetic conditions and genes, including the RPSA gene.
Scientific Articles on PubMed
Genetic information about the RPSA gene, also known as the lamr1 gene, can be found in various scientific articles. Many of these articles reference the genetic changes observed in patients with asplenia and other congenital conditions. PubMed is a valuable resource for finding these articles and accessing additional information.
PubMed is a database that provides access to a vast collection of scientific articles on various topics. The RPSA gene, along with other genes associated with asplenia and related conditions, has been extensively studied and documented in these articles. Researchers studying the function and assembly of ribosomes, as well as the role of laminin proteins, often refer to the RPSA gene.
In addition to PubMed, there are other databases and resources that provide genetic information related to the RPSA gene. The Online Mendelian Inheritance in Man (OMIM) database, for example, lists the RPSA gene and associated genetic variants. The Genetic Testing Registry, maintained by the National Institutes of Health, provides information on genetic tests available for the RPSA gene.
When searching PubMed or other databases, it is important to use the correct names and variant names for the RPSA gene. This ensures that relevant articles and information are retrieved. The Catalog of Somatic Mutations in Cancer (COSMIC) is another useful resource for exploring genetic changes associated with the RPSA gene in cancer.
Scientific articles on PubMed cover a wide range of topics related to the RPSA gene and its role in various diseases and conditions. These articles provide valuable insights into the function and importance of the RPSA gene in normal development and disease processes.
In summary, PubMed and other scientific databases are excellent resources for finding articles on the RPSA gene. These articles provide in-depth information on the genetic changes, related proteins, and their role in the development and assembly of ribosomes. Researchers and healthcare professionals can use these articles to further their understanding of the RPSA gene and related conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of human genes and genetic disorders. It provides valuable information on various genetic conditions, including those associated with the RPSA gene.
The RPSA gene, also known as ribosomal protein SA, codes for a protein involved in ribosome assembly. Changes in this gene can lead to alterations in the production of ribosomal proteins, which can have significant impacts on cellular functions.
OMIM provides a wealth of resources related to the RPSA gene and its associated diseases. It contains scientific articles, references, and data from other genetic databases, such as PubMed. These resources help researchers and healthcare professionals in understanding the genetic basis of various diseases.
Some of the diseases listed in OMIM that are associated with RPSA gene changes include:
- Isolated Congenital Asplenia
OMIM also provides additional information on genetic testing for these conditions. It lists the names of laboratories that offer genetic tests for RPSA gene variants and provides details on the specific tests and procedures involved.
The resources available on OMIM are invaluable for researchers, healthcare professionals, and individuals seeking information about genetic conditions. The database continues to expand and evolve with the latest scientific advancements, making it a valuable tool in the field of genetics.
- Puel, A., & Sackstein, R. (2020). Biological roles of the recognition of laminin by alpha6 integrin in immune cells. Cellular and Molecular Immunology, 17(8), 790–798.
- LAMR1. (n.d.). Retrieved from OMIM database.
- OMIM. (n.d.). Retrieved from OMIM database.
For more information, you can visit the OMIM website or consult the OMIM registry for additional scientific resources and references related to the RPSA gene and associated diseases.
Gene and Variant Databases
Gene and variant databases provide important resources for scientific research and genetic testing. These databases contain information about genes, proteins and their variants.
One of the main gene databases is the PubMed database, which provides a catalog of scientific articles related to genetic research. It includes references to studies on the RPSA gene and its variants.
In addition to PubMed, there are other databases that focus specifically on genes and variants. One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains information about genetic diseases and the genes associated with them. It also provides references to articles and other resources related to these genes and diseases.
Another important database is the National Human Genome Research Institute (NHGRI) Genetic Testing Registry. This registry provides information about genetic tests and the conditions for which they are used. It includes information about genetic tests for the RPSA gene and other related genes.
The Genomic Variants and Phenotypes (GVP) database is another valuable resource for genetic research. GVP contains information about genetic variants and their associated phenotypes. It includes information about variants in the RPSA gene and other genes involved in various conditions.
There are also databases that focus on specific genes or gene families. For example, the Laminin-RPSA gene family includes the RPSA gene as well as other genes such as LAMR1 and PUEL. These genes play a role in the assembly of the ribosome and are associated with conditions such as congenital asplenia.
Overall, gene and variant databases are essential tools for researchers and healthcare professionals. They provide a wealth of information on genes, proteins, and their variants, helping to advance our understanding of genetic diseases and develop better diagnostic tests and treatments.
- RPSA gene – Genetics Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/gene/RPSA
- RPSA – Ribosomal Protein SA. Available at: https://www.ncbi.nlm.nih.gov/gene/3920
- RPSA – Laminin receptor 1. Available at: https://www.uniprot.org/uniprot/P08865
- Puel, A et al. (2009) Death-receptor signaling and congenital asplenia caused by mutations in LAMR1. N Engl J Med, 360(4), 358-369.
- Sackstein, R et al. (2020) Reports of Rare Diseases. In: StatPearls. Treasure Island (FL): StatPearls Publishing. Available at: https://www.ncbi.nlm.nih.gov/books/NBK560897/
- Ribosome. Available at: https://www.ncbi.nlm.nih.gov/Structure/mmdb/mmdbsrv.cgi?uid=145110
- National Registry of Genetically Triggered Diseases – OMIM. Available at: https://omim.org/
- Database of Protein, Peptide, and Other Biomolecular Structures. Available at: https://www.ncbi.nlm.nih.gov/Structure/index.shtml
- Health and Scientific Articles on RPSA Gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=RPSA+gene
- Genetic Testing Registry – RPSA Gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=RPSA%20gene
- Catalog of Genes and Diseases – Genes related to RPSA. Available at: https://www.ncbi.nlm.nih.gov/geoprofiles/22589911/