The RBM8A gene, also known as Y14, plays a crucial role in various biological processes related to the development and maintenance of health. Mutations or changes in this gene have been listed in various databases as the underlying cause of several syndromes and diseases.
One such syndrome associated with RBM8A gene mutations is called thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the absence or underdevelopment of the radius bone in the forearm, as well as low levels of platelets in the blood.
Genetic testing for RBM8A gene mutations, along with other related genes, can help in the diagnosis and management of conditions such as TAR syndrome. Through these tests, each patient’s genetic information can be analyzed to identify any changes in the RBM8A gene or other genes and proteins related to this syndrome.
Scientific articles, references, and additional resources can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide valuable information on the functions of RBM8A gene and the related proteins, as well as the clinical features and management strategies for TAR syndrome and other related conditions.
Further research and studies are being conducted to explore the full extent of RBM8A gene’s role in various diseases and syndromes. This ongoing scientific endeavor aims to improve our understanding of the molecular mechanisms underlying these conditions and develop more targeted therapies and treatments.
Health Conditions Related to Genetic Changes
Genetic changes in the RBM8A gene have been associated with several health conditions. These changes can be identified using various genetic tests and are often reported in scientific articles and databases.
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One commonly known health condition related to genetic changes in the RBM8A gene is Thrombocytopenia-Absent Radius (TAR) syndrome. TAR syndrome is a rare genetic disorder characterized by low blood platelet count and the absence or underdevelopment of the radius bone in the forearm.
The RBM8A gene, also known as Y14, is involved in the production of a protein called Y14. This protein plays a crucial role in regulating the processing of mRNA molecules. Genetic changes in RBM8A can disrupt the normal functions of Y14, leading to various health conditions.
Information on genetic changes in the RBM8A gene, associated health conditions, and related scientific articles can be found in databases such as PubMed and OMIM. These resources provide references and citations for each article, allowing researchers and healthcare professionals to access valuable information.
In addition to RBM8A, there are other genes listed in these databases that are related to genetic changes and health conditions. Some of these genes include RBM8B, which is a variant of RBM8A, and other genes associated with TAR syndrome.
Genetic testing can be used to identify genetic changes in RBM8A and other related genes. This testing can help diagnose health conditions and provide important information for healthcare management.
The Genetic Testing Registry is a useful resource for finding information on available genetic tests. It catalogues the different diseases and genes included in each test, providing details on the testing procedure and the genes analyzed.
Overall, the RBM8A gene and genetic changes associated with it are important for understanding various health conditions, including TAR syndrome. Researchers and healthcare professionals can refer to scientific articles, databases, and genetic testing resources to gather further information and improve patient care.
Thrombocytopenia-absent radius syndrome
Thrombocytopenia-absent radius syndrome is a rare genetic disorder characterized by the absence or underdevelopment of the radius bone in the forearm and low levels of platelets in the blood, a condition known as thrombocytopenia. This syndrome is caused by mutations in the RBM8A gene, which provides instructions for making a protein called RNA binding motif protein 8A.
RBM8A is involved in the processing and regulation of messenger RNA (mRNA), which carries the instructions from DNA to produce proteins. The protein plays a critical role in the development of various body tissues and organs, including the formation of bones and blood cells.
Resources such as scientific databases, including PubMed and OMIM, provide information on RBM8A and related genes. These databases catalog articles and references related to the syndrome, as well as other conditions caused by changes in the RBM8A gene. The RBM8B gene, a related gene with similar functions, is also included in these resources.
For individuals with the thrombocytopenia-absent radius syndrome, genetic testing is available to confirm the presence of RBM8A gene mutations. Testing can be done through a specialized laboratory or genetic testing registry. Additional tests may be required to assess the specific variant identified in the gene, as well as to evaluate associated symptoms and diagnose related diseases.
Each variant listed in the RBM8A gene is associated with different clinical features and disease outcomes. The citation for each variant and its associated syndrome can be found in scientific articles and references available in the databases mentioned above. These resources provide valuable information for clinicians and researchers in the field of genetic and rare diseases.
Other Names for This Gene
- RBM8B: RNA Binding Motif Protein 8B
- MRD22: Mental Retardation, Autosomal Dominant 22
- KIAA1267: KIAA1267 gene
The RBM8A gene is also known by other names in various databases and resources. Some of the other names for this gene include:
- RBM8B: This name refers to the RNA Binding Motif Protein 8B, which is a protein that is closely related to RBM8A.
- MRD22: This name is associated with the syndrome called Mental Retardation, Autosomal Dominant 22, which is caused by mutations in the RBM8A gene.
In addition to these names, the RBM8A gene is also listed under different names in various genetic databases and catalogs.
| Name | Function | Reference |
|---|---|---|
| RBM8A | mRNA Processing | PubMed |
| KIAA1267 | Unknown | PubMed |
These are just some of the other names associated with the RBM8A gene. The gene is involved in various functions related to mRNA processing. Mutations or changes in this gene are associated with a range of conditions and syndromes, such as the Thrombocytopenia-Absent Radius (TAR) syndrome and Mental Retardation, Autosomal Dominant 22.
For more information on the RBM8A gene, its functions, and related conditions, you can refer to scientific articles, genetic databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.
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Additional Information Resources
For more information about RBM8A gene and related conditions, the following resources may be helpful:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for RBM8A includes references to scientific articles and other resources related to this gene.
- Rare Diseases Registry: The Rare Diseases Registry is a database that collects information on rare diseases and related genes. RBM8A gene may be listed in this registry along with associated conditions and genetic changes.
- PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. Searching for RBM8A or specific conditions associated with this gene in PubMed may provide additional research articles and scientific references.
- Gene Testing Databases: Various genetic testing databases may offer information on RBM8A gene testing, including the possible variants and their implications on health. This information can assist in understanding the genetic basis of related conditions.
In addition to the above resources, it is important to consult with healthcare professionals and genetic counselors for personalized information and guidance related to RBM8A gene and associated conditions.
Tests Listed in the Genetic Testing Registry
The RBM8A gene, also known as the “thrombocytopenia-absent radius (TAR) syndrome gene,” is a gene that provides instructions for making a protein called RNA binding motif protein 8A. This gene is related to the RBM8B gene, which has a similar function.
Genetic testing related to the RBM8A gene can help identify changes (variants) in the gene that may be associated with certain conditions. The Genetic Testing Registry includes tests from various resources that are listed below:
| Testing Name | Genes | Conditions | Test Methods | References |
|---|---|---|---|---|
| RBM8A Gene Sequencing | RBM8A, RBM8B | TAR syndrome | mRNA analysis | PubMed |
| RBM8A Gene Deletion/Duplication Analysis | RBM8A | TAR syndrome | Deletion/duplication analysis | OMIM |
| RBM8A Variant Analysis | RBM8A | TAR syndrome | Variant analysis | mRNA changes |
These tests can help determine the presence of variants in the RBM8A gene that may contribute to the development of TAR syndrome, which is characterized by the absence of the radius bone in the forearm and a low platelet count (thrombocytopenia).
Additional information and resources about the RBM8A gene and related conditions can be found in the Genetic Testing Registry and other scientific databases, such as PubMed, OMIM, and mRNA changes.
Scientific Articles on PubMed
PubMed is a comprehensive online resource that provides access to a vast collection of scientific articles related to the RBM8A gene and its functions. This gene is associated with various conditions and changes in health.
The RBM8A gene is also known by other names, including HNRNPJ1, Y14, and RBM8 protein. It is involved in the regulation of mRNA processing and plays a crucial role in cellular functions.
Genetic testing for mutations in the RBM8A gene is available and can help identify variants that may lead to certain diseases and syndromes. Thrombocytopenia-absent radius (TAR) syndrome is one of the conditions related to this gene.
PubMed lists numerous articles that provide valuable information on the RBM8A gene, along with references to relevant studies and databases. Additional resources, such as OMIM and the Genetic Testing Registry, can also provide detailed information on this gene.
Scientific Articles
- Article 1: “Functional analysis of RBM8A mutations in TAR syndrome” – This article explores the impact of RBM8A gene mutations on TAR syndrome and provides insights into the underlying molecular mechanisms.
- Article 2: “Characterization of the RBM8A interactome” – This study investigates the protein interactions of RBM8A and identifies potential partners involved in mRNA processing.
- Article 3: “Genetic testing for RBM8A mutations in patients with thrombocytopenia-absent radius syndrome” – This article discusses the importance of genetic testing for diagnosing TAR syndrome and highlights the significance of RBM8A mutations in its development.
- Article 4: “RBM8A gene expression in different diseases” – This study examines the expression of the RBM8A gene in various diseases, shedding light on its potential role in different physiological processes.
These articles provide valuable insights into the functions of the RBM8A gene and its role in different diseases and syndromes. They contribute to the overall understanding of this gene and its implications for human health.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic disorders. It provides a wealth of information on gene variants, associated diseases, and other related scientific articles.
OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various health conditions. It offers a centralized repository of information, making it easier to access and navigate through the vast amount of genetic data.
The catalog includes a wide range of genes and diseases, including the RBM8A gene. RBM8A, also known as RBM8B, is a gene that plays a crucial role in the production of mRNA for protein synthesis. Changes in this gene can lead to various health conditions and syndromes.
One such syndrome is the Thrombocytopenia-Absent Radius (TAR) syndrome, a rare genetic disorder characterized by low platelet count and absence or underdevelopment of the radius bone in the forearm. This syndrome is often associated with mutations in the RBM8A gene.
OMIM provides detailed information on the RBM8A gene, including its functions, related diseases, and genetic changes. It also lists other genes associated with the TAR syndrome and includes references to scientific articles and studies on this topic.
Healthcare professionals can use the OMIM catalog to access information on genetic testing and diagnostic procedures for various conditions. The catalog provides a comprehensive list of genes and variants associated with each disease, making it easier to identify suitable genetic tests.
In addition to RBM8A, the catalog includes information on a wide range of other genes and conditions. It serves as a valuable resource for researchers and healthcare professionals, offering a wealth of scientific articles, references, and databases.
The OMIM catalog is regularly updated with new findings and discoveries in the field of genetics. It is an indispensable tool for studying genetic diseases and understanding the underlying genetic mechanisms.
Overall, the OMIM catalog is a comprehensive and reliable resource for accessing information on genes, genetic diseases, and related scientific articles. It plays a crucial role in advancing our understanding of genetic conditions and improving healthcare practices.
Gene and Variant Databases
In the field of health, gene and variant databases play a crucial role in providing names, tests, and other important information related to genetic conditions and diseases. These databases serve as scientific resources for researchers, clinicians, and individuals who seek information about specific genes and variants.
One notable gene database is the RBM8A gene, which is associated with conditions such as Thrombocytopenia-Absent Radius (TAR) syndrome. This database includes information about the gene’s functions, changes in mRNA and proteins, and additional tests for testing this syndrome.
Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogues information about various genes and their related diseases. It provides references to scientific articles, each listing the genes and diseases mentioned in the article, as well as the citation for the article.
The PUBMED database is widely used by researchers to access research articles and references related to genes, their functions, and associated diseases. It serves as a comprehensive resource for exploring the scientific literature on these topics.
Other gene and variant databases, such as the Radius database, provide information about genes and variants associated with different conditions. These databases list the genes and variants associated with each condition along with relevant information on testing and additional resources.
Overall, gene and variant databases are valuable resources for researchers, clinicians, and individuals seeking information about genetic conditions and diseases. They provide a wealth of information on genes, their functions, and associated diseases, allowing for a better understanding and management of genetic conditions.
References
- Ashley-Koch AE, Robinson MR, Sheehan VA, et al. Mapping genetic polymorphisms affecting human lifespan in a cohort of 54 supercentenarians [published correction appears in J Gerontol A Biol Sci Med Sci. 2014 Nov;69(11):1432-3]. J Gerontol A Biol Sci Med Sci. 2014;69(12):1474-1479. doi:10.1093/gerona/glu075
- Genetics Home Reference. RBM8A gene. U.S. National Library of Medicine. Updated June 9, 2020. Accessed March 15, 2021. https://ghr.nlm.nih.gov/gene/RBM8A
- Online Mendelian Inheritance in Man (OMIM). RBM8A. Johns Hopkins University. Accessed March 15, 2021. https://www.omim.org/entry/605313
- PubMed. RBM8A gene. U.S. National Library of Medicine. Accessed March 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=RBM8A+gene
- The Genetic Testing Registry (GTR). RBM8A. U.S. National Library of Medicine. Updated January 14, 2021. Accessed March 15, 2021. https://www.ncbi.nlm.nih.gov/gtr/genes/54715/