RARS2 gene

Published Categorized as Genetics
RARS2 gene

The RARS2 gene, also known as arginyl-tRNA synthetase 2, is responsible for the production of a molecule called arginyl-tRNA synthetase. This molecule plays a crucial role in the assembly of proteins in our bodies. Mutations in the RARS2 gene can lead to various genetic diseases and health conditions.

Many articles and scientific databases, such as OMIM and PubMed, have listed the RARS2 gene as a cause for diseases like pontocerebellar hypoplasia and other conditions. These changes in the RARS2 gene can be detected through genetic testing, which is a valuable tool for diagnosing and understanding these conditions.

The RARS2 gene is part of a larger group of genes called tRNA synthetases, which are responsible for attaching specific amino acids to transfer RNA molecules. This process is essential for accurate protein synthesis in our cells. Variants or mutations in the RARS2 gene can disrupt this process, leading to a variety of health problems.

For individuals and families affected by diseases associated with the RARS2 gene, resources like genetic registries, testing laboratories, and research articles provide additional information and support. These resources can help individuals and their healthcare providers understand the genetic basis of their condition and explore potential treatment options.

Researchers continue to study the RARS2 gene and its role in various diseases, aiming to develop improved diagnostic tests and targeted therapies. By unraveling the complexities of this gene and its interactions with other molecules, scientists hope to better understand and treat the conditions associated with RARS2 gene mutations.

Health Conditions Related to Genetic Changes

Genetic changes in the RARS2 gene can lead to various health conditions. These changes can affect the production or functioning of the RARS2 gene and its associated protein, which is responsible for encoding an enzyme called mitochondrial arginyl-tRNA synthetase.

Arginyl-tRNA synthetase is involved in the process of protein synthesis, specifically in the attachment of the amino acid arginine to transfer RNA (tRNA) molecules. This is a crucial step in the production of proteins in cells.

Changes in the RARS2 gene can lead to a condition called pontocerebellar hypoplasia (PCH), which is a rare genetic disorder characterized by underdevelopment of the cerebellum and the pons, parts of the brain that are involved in muscle coordination and other functions.

There are different types of pontocerebellar hypoplasia, and changes in the RARS2 gene have been identified as a cause for PCH type 7. This condition is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated RARS2 gene to develop the condition.

Individuals with pontocerebellar hypoplasia type 7 may experience symptoms such as developmental delay, intellectual disability, seizures, and problems with movement and coordination.

To diagnose RARS2-related health conditions, genetic testing can be performed. This involves analyzing the DNA of an individual to identify any changes or variants in the RARS2 gene. This can be done through various methods, such as sequencing the entire gene or targeted analysis of specific regions of interest.

There are several resources available for individuals seeking more information on RARS2 gene-related conditions. Online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and references related to this gene and its associated conditions.

The Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR) also provide information on genetic changes and associated health conditions. These resources list the names of specific genetic changes and provide information on the diseases they may cause.

Genetic changes in the RARS2 gene can cause other diseases and conditions as well. Additional scientific articles and resources can be found through searching these databases and references.

It is important for people with RARS2 gene-related conditions to receive appropriate medical care and support. Genetic counseling can help affected individuals and their families understand the inheritance pattern of these conditions and make informed decisions.

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia is a genetic condition that affects the development of the brainstem (ponto) and cerebellum. It is caused by changes in the RARS2 gene, which provides instructions for making a molecule called mitochondrial phenylalanyl-tRNA synthetase (RARS2).

Pontocerebellar hypoplasia can be inherited in an autosomal recessive pattern, meaning that both copies of the RARS2 gene in each cell have mutations. The specific mutations in the RARS2 gene lead to a shortage of functional mitochondrial phenylalanyl-tRNA synthetase. This shortage impairs the production of tRNA proteins, which are crucial for the synthesis of proteins within mitochondria.

Pontocerebellar hypoplasia can also be caused by other genetic variants or changes in genes related to RARS2. Additional related conditions include diseases caused by changes in other tRNA synthetase genes.

Genetic testing can be used to identify changes in the RARS2 gene and other genes associated with pontocerebellar hypoplasia. These tests can provide valuable information for diagnosis, treatment, and genetic counseling. Healthcare professionals can use this information to develop personalized management plans for individuals with pontocerebellar hypoplasia and their families.

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Resources such as databases, catalogs, and scientific articles in PubMed can provide further information on pontocerebellar hypoplasia, RARS2, and related conditions. The Online Mendelian Inheritance in Man (OMIM) registry is a valuable resource for information on genetic diseases.

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Other Names for This Gene

The RARS2 gene has also been referred to by other names:

  • RARSL2
  • LRS2
  • RAR2S
  • bA524O15.2 (RARS2)

These other names reflect different naming conventions and alternative sources of genetic information. The RARS2 gene is referenced by various scientific articles, databases, and resources related to genetics and health conditions. For example, the Online Mendelian Inheritance in Man (OMIM) database lists RARS2 as a variant associated with pontocerebellar hypoplasia, whereas the National Institutes of Health’s Genetic Testing Registry (GTR) includes RARS2 on its list of genes available for testing.

In addition to the RARS2 gene, these databases and resources may also include other related genes, proteins, and conditions. The RARS2 gene is classified as a tRNA synthetase, a molecule involved in protein synthesis. Changes (variants) in the RARS2 gene can cause genetic conditions such as pontocerebellar hypoplasia.

For more information on the RARS2 gene and related conditions, you can refer to the scientific literature, databases like PubMed, and resources provided by organizations specializing in genetic research and testing.

Additional Information Resources

  • Cause: The RARS2 gene is responsible for producing a protein called mitochondrial arginyl-tRNA synthetase. Changes or variant in this gene can result in the development of certain diseases and conditions.

  • Tests: Genetic testing for the RARS2 gene can be performed to identify any changes or mutations that may be present. This can help in diagnosing and understanding the associated diseases and conditions.

  • Names: The RARS2 gene is also known by other names, such as mitochondrial arginyl-tRNA synthetase 2 and mitochondrial arginine-tRNA ligase 2.

  • Proteins: The RARS2 gene produces the mitochondrial arginyl-tRNA synthetase protein, which is involved in the process of protein synthesis.

  • Pontocerebellar Hypoplasia: Mutations in the RARS2 gene have been linked to a condition called pontocerebellar hypoplasia, which affects the development and function of the brain and the cerebellum.

  • tRNA Synthetase: Mitochondrial arginyl-tRNA synthetase is an enzyme that plays a crucial role in attaching arginine to transfer RNA (tRNA) molecules.

  • Changes and Variants: Different changes or variants in the RARS2 gene can result in various diseases and conditions, including pontocerebellar hypoplasia.

  • Other Genetic Conditions: Genetic changes in the RARS2 gene have also been associated with other conditions and diseases, apart from pontocerebellar hypoplasia.

Additional information on the RARS2 gene, genetic testing, and related diseases can be found in the following resources:

  1. Online Mendelian Inheritance in Man (OMIM) – This database provides comprehensive information on the RARS2 gene and associated diseases. Access OMIM for RARS2 here.

  2. PubMed – A collection of scientific articles and research papers on the RARS2 gene and related topics can be found in the PubMed database. Access PubMed for RARS2 here.

  3. Genetic Testing Registry (GTR) – The GTR provides a catalog of genetic tests available for the RARS2 gene. It includes information on the purpose, methodology, and clinical utility of these tests. Access the GTR for RARS2 here.

  4. Scientific Articles and Health Resources – Various health resources and articles about the RARS2 gene and associated conditions can be found on different scientific websites and health platforms.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of diseases and conditions. These tests are used to identify changes or variants in specific genes or proteins that can cause or contribute to certain health-related conditions.

The RARS2 gene is one of the genes that has been listed in the GTR. This gene codes for a molecule called mitochondrial arginyl-tRNA synthetase, which is involved in protein synthesis within the mitochondria. Changes or variants in the RARS2 gene can lead to pontocerebellar hypoplasia, a neurological disorder characterized by underdevelopment of the pons and cerebellum.

Genetic testing for the RARS2 gene can be used to identify these changes or variants in individuals who may be at risk for pontocerebellar hypoplasia. This information can be important for diagnosing the condition and guiding treatment decisions.

In addition to the RARS2 gene, the GTR also lists other genes and proteins that are associated with various diseases and conditions. These resources can be used to find additional tests related to specific genes or proteins of interest.

The GTR provides a comprehensive catalog of genetic tests and associated scientific articles, references, and databases. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information about genetic testing and inherited conditions.

Examples of Genetic Tests Listed in the GTR
Gene/Protein Test Related Diseases/Conditions
RARS2 Gene sequencing Pontocerebellar hypoplasia
BRCA1 Mutation analysis Breast and ovarian cancer
CFTR Deletion/duplication analysis Cystic fibrosis

These examples highlight the diverse range of tests, genes, and conditions listed in the GTR. By providing access to this information, the GTR supports research, diagnosis, and treatment of genetic diseases.

References:

  1. Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/)
  2. OMIM (https://www.omim.org/)
  3. PubMed (https://pubmed.ncbi.nlm.nih.gov/)

Scientific Articles on PubMed

In the study of the RARS2 gene, there have been numerous scientific articles published on PubMed. PubMed is a widely used and trusted resource for scientific literature in the field of health and medicine. It catalogs articles from a variety of publications and provides valuable information on genetic testing, diseases, genetic changes, and related conditions.

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When searching for scientific articles on PubMed related to the RARS2 gene, one can find a wealth of information. PubMed lists articles on various diseases and conditions that are caused by changes or variants in the RARS2 gene. Some of these conditions include pontocerebellar hypoplasia and mitochondrial disorders.

The RARS2 gene is responsible for encoding a molecule called tRNA synthetase, which is involved in protein synthesis. Given the importance of this gene, many researchers have focused on understanding its function and the potential diseases associated with changes in it.

In addition to articles specific to the RARS2 gene, PubMed also provides a plethora of general articles on genetics and related topics. These articles can be helpful in gaining a broader understanding of the genetic basis of diseases and inheritance patterns.

PubMed is a valuable resource not only for scientists and researchers but also for healthcare professionals and people interested in learning more about genetics and genetic conditions. It offers access to a wide range of scientific articles, references, and resources that can aid in further research and understanding.

When using PubMed to search for articles on the RARS2 gene, it is helpful to use keywords such as “RARS2 gene,” “RARS2 variant,” or “RARS2 genetic changes” to narrow down the search results. Additionally, referring to other databases and registries such as OMIM (Online Mendelian Inheritance in Man) can provide additional information and references.

Overall, PubMed serves as a hub for scientific articles and resources related to the RARS2 gene and other genes associated with genetic conditions. Its comprehensive collection of articles provides a valuable platform for researchers and individuals interested in the field of genetics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific resource that provides information on genetic diseases and genes. It serves as a catalog of genes and diseases, offering a wide range of information for scientists, healthcare professionals, and people interested in understanding genetic conditions.

The RARS2 gene, also known as the mitochondrial arginyl-transfer RNA synthetase 2 gene, is listed in the OMIM catalog. This gene is responsible for encoding a protein that plays a vital role in the synthesis of tRNA molecules.

Changes or variations in the RARS2 gene have been shown to cause pontocerebellar hypoplasia, a rare genetic disorder that affects the development of the brain’s pons and cerebellum. Scientific studies and references related to this gene and its associated health conditions can be found in OMIM.

The OMIM catalog provides a registry of genetic diseases and conditions that are associated with specific genes. For each gene, the catalog includes information on the related diseases, their genetic causes, and additional testing resources.

OMIM offers a wealth of information and resources for researchers and healthcare professionals. The catalog includes references to relevant scientific articles, databases, and other online resources that can be used to further investigate the genetics of diseases and related genes.

For people affected by genetic diseases or interested in learning more about a specific condition, OMIM can serve as a valuable source of information. It provides accessible and reliable information on genetic conditions, their causes, and the genes involved.

In summary, OMIM serves as a catalog of genes and diseases, providing comprehensive information on genetic diseases, their causes, and the associated genes. The RARS2 gene is just one example of the many genes and conditions listed in OMIM, offering valuable insights for scientific research, diagnostic testing, and patient care.

Gene and Variant Databases

When studying the RARS2 gene and its related conditions, it is crucial to rely on gene and variant databases that provide comprehensive information. Here are some essential resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It includes information on the RARS2 gene and related conditions, such as pontocerebellar hypoplasia and other diseases caused by changes in this gene.
  • PubMed: PubMed is a vast database of scientific articles that can be searched for information on RARS2 and its associated conditions. It provides additional references and articles that discuss the RARS2 gene and its role in different diseases.
  • GeneTests: GeneTests is a comprehensive online resource that provides information on genetic testing and the genes involved in various conditions. It offers details on tests available for RARS2 and related genes, allowing clinicians and researchers to access relevant testing options.
  • Registry of Hereditary Diseases: The Registry of Hereditary Diseases is a database that collects and classifies information on genetic diseases. It includes a registry for RARS2-related conditions, providing valuable information for healthcare professionals and individuals seeking information about these diseases.

These databases offer valuable resources for those studying the RARS2 gene and related conditions. They provide information on the genetic changes that cause these diseases, as well as testing options, inheritance patterns, and associated proteins and molecules.

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Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.