The TRNT1 gene, also known as CCA-adding tRNA nucleotidyltransferase 1, is a gene that is involved in the modification of transfer RNA molecules. Transfer RNA (tRNA) is a type of RNA molecule that is essential for protein synthesis in cells. The TRNT1 gene provides instructions for making a protein that is responsible for adding a specific nucleotide, called CCA, to the end of tRNA molecules.
Changes in the TRNT1 gene can cause a genetic deficiency known as CCA-adding tRNA nucleotidyltransferase 1 deficiency. This rare genetic disorder affects the function of the TRNT1 protein, leading to abnormalities in tRNA molecules. These changes can disrupt the normal process of protein synthesis and cause a range of health conditions.
Information about the TRNT1 gene and its associated genetic disorders can be found in various resources, including scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the TRNT1 gene and its associated diseases. PubMed is another valuable resource for finding scientific articles related to the TRNT1 gene.
Genetic testing can be used to identify changes in the TRNT1 gene and diagnose CCA-adding tRNA nucleotidyltransferase 1 deficiency. Testing may involve analyzing the DNA sequence of the gene or examining the protein produced by the gene.
It is important to note that the TRNT1 gene is just one of many genes involved in protein synthesis and other cellular processes. The functions of these genes are interconnected, and changes in one gene can impact the function of other genes and protein complexes. Many other genetic diseases and conditions are also caused by changes in genes related to tRNA modification and other cellular processes.
In conclusion, the TRNT1 gene is a crucial gene involved in the modification of tRNA molecules. Changes in this gene can lead to a genetic deficiency known as CCA-adding tRNA nucleotidyltransferase 1 deficiency, causing various health conditions. A wealth of information is available on this gene and its associated disorders through scientific articles, databases, and registries, making it easier for researchers and clinicians to understand and address these rare genetic diseases.
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Health Conditions Related to Genetic Changes
Genetic changes in the TRNT1 gene can cause various health conditions. The TRNT1 gene provides instructions for making the enzyme tRNA-nucleotidyltransferase, which is essential for the production of transfer RNA (tRNA) molecules.
tRNA molecules are critical in protein synthesis, as they help decode the information from genes and convert it into functional proteins. Any changes in the TRNT1 gene can disrupt this process and lead to a deficiency of functional tRNA molecules.
Deficiency in tRNA-nucleotidyltransferase can cause a wide range of health conditions, including:
- Neuropathy, myopathy, and encephalopathy
- Intellectual disability
- Epilepsy
- Growth retardation
- Pancytopenia (low blood cell counts)
- Respiratory insufficiency
- Developmental delay
These conditions are often referred to as TRNT1-related diseases or TRNT1-related disorders. They are considered rare and can have varying degrees of severity.
To learn more about these conditions, you can refer to scientific articles and databases that provide information on genetic changes and their associated health effects. Some of these resources include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the TRNT1 gene and related conditions.
- PubMed: PubMed is a database of scientific articles. Searching for “TRNT1 gene” or “TRNT1-related diseases” can provide additional research and clinical information.
- The Human Gene Mutation Database (HGMD): HGMD is a database that collects information on disease-causing mutations in human genes. It provides a list of TRNT1 gene variants associated with specific health conditions.
- The Clinical Genomic Database (Clingen): Clingen is a resource for clinical genetic testing. It provides a curated list of genes associated with genetic disorders and information on available tests.
Understanding the genetic changes in the TRNT1 gene and their impact on health requires comprehensive research and analysis. By referring to these resources, healthcare professionals and researchers can gain valuable insights into the management and treatment of TRNT1-related conditions.
TRNT1 deficiency
TRNT1 deficiency is a rare genetic condition caused by changes (mutations) in the TRNT1 gene. The TRNT1 gene provides instructions for making an enzyme called tRNA-nucleotidyltransferase, which is essential for the production of transfer RNA (tRNA) molecules. These molecules play a crucial role in protein synthesis, as they help to decode the genetic information stored in DNA and convert it into functional proteins.
People with TRNT1 deficiency can experience a wide range of symptoms and health problems, as the condition can affect different systems in the body. Some individuals may have skeletal abnormalities, such as short stature or deformities in the bones and joints. Others may develop heart and kidney problems, immune system dysfunction, or neurological symptoms, such as developmental delays and seizures.
TRNT1 deficiency is listed in the Online Mendelian Inheritance in Man (OMIM) catalog under the number 612907. The Genetic Testing Registry (GTR) also provides information on genetic tests available for this condition.
Diagnosis of TRNT1 deficiency is typically based on the presence of characteristic symptoms and genetic testing. Testing may involve sequencing the TRNT1 gene to identify any mutations or changes that may be causing the condition.
Scientific articles and other resources related to TRNT1 deficiency can be found in the PubMed database and other scientific literature databases. The OMIM catalog and GTR also provide references and additional information on this condition.
Currently, there is no specific treatment for TRNT1 deficiency. Management of the condition typically involves addressing individual symptoms and providing supportive care. This may include physical therapy, medications, and regular monitoring of organ function.
It is important for individuals with TRNT1 deficiency and their families to seek information and support from reputable health resources, such as genetic counseling services and patient advocacy groups. These resources can provide valuable information and assistance in understanding the condition, managing symptoms, and connecting with others affected by TRNT1 deficiency.
Other Names for This Gene
The scientific and genetic name for this gene is TRNT1. It is also known by other names in different systems and resources:
- CCA-adding enzyme 1
- Mitochondrial aminoacyl-tRNA synthetase-like protein
- Nucleotidyltransferase 1
- TRNA nucleotidyl transferase, CCA-adding, 1
- tRNA nucleotidyltransferase 1
- tRNA nucleotidyltransferase, CCA-adding, 1
- tRNA-nucleotidyltransferase, CCA-adding, 1
- tRNA-nucleotidyltransferase, CCA-adding, subunit 1
- TRNA adenylyl/uridylyl transferase 1
- Cytoplasmic tRNA nucleotidyltransferase 1
These names may appear in scientific articles, genetic databases, and other resources related to this gene.
It is important to note that changes in this gene can cause rare diseases and deficiencies. Additional information on the gene can be found in the OMIM database, which lists genetic and phenotypic information for various genes and conditions.
References and articles related to TRNT1 can be found in the PubMed database, which is a valuable resource for accessing scientific literature on genetics and medical research.
Additional Information Resources
If you are interested in learning more about the TRNT1 gene, cca-adding modification, and related scientific information, the following resources can provide you with valuable insights:
- PubMed: A comprehensive database of scientific articles, journal papers, and research studies. You can search for articles related to TRNT1 gene, cca-adding modification, and related conditions.
- OMIM: Online Mendelian Inheritance in Man is a comprehensive database that provides information about genetic diseases and their associated genes. OMIM contains curated information about TRNT1 gene and its role in various diseases and conditions.
- Genetic Testing Registry: This resource provides information about genetic tests and laboratories offering testing for TRNT1 gene-related conditions. It includes details about the test methods, availability, and additional resources.
- Wiley Online Library: An online repository of scientific articles and publications. You can find research papers and studies on TRNT1 gene, cca-adding modification, and related topics.
In addition to these resources, there are other databases and registries that can provide further genetic information about TRNT1 gene and related conditions. These include databases such as Naas Complexes, Genetic Testing Registry, and Catalog of Somatic Mutations in Cancer.
It is important to note that TRNT1 gene deficiencies are rare genetic disorders and may present in various forms. For information on specific variants, testing, and related diseases, consulting genetic specialists and healthcare professionals is recommended.
References:
- Gene: TRNT1 (ncbi.nlm.nih.gov)
- TRNT1 (OMIM)
- Genetic Testing Registry: TRNT1
- Naas Complexes
- Wiley Online Library
- Catalog of Somatic Mutations in Cancer
Tests Listed in the Genetic Testing Registry
The TRNT1 gene, also known as TRNA-Nucleotidyltransferase, CCA-Adding, 1, regulates the addition of the CCA sequence to the 3’ end of transfer RNAs (tRNAs). Mutations in this gene can cause changes in the protein complexes involved in this modification process, leading to genetic deficiencies and rare conditions.
Tests for TRNT1 gene-related disorders are listed in the Genetic Testing Registry, a catalog of genetic tests and related information. This registry provides scientific resources and references from various databases, such as OMIM and PubMed, on genetic diseases and the genes, proteins, and systems involved.
In addition to the TRNT1 gene, the registry includes tests for other genes and variants associated with tRNA-nucleotidyltransferase deficiency and related conditions. This comprehensive listing allows healthcare providers and researchers to access information on available tests and further investigate these genetic disorders.
| Test Name | Disease or Condition |
|---|---|
| TRNT1 Gene Sequencing | TRNT1-related diseases |
| TRNT1 Gene Deletion/Duplication Analysis | TRNT1-related diseases |
| Whole Exome Sequencing | Genetic disorders with overlapping symptoms |
These tests can help identify genetic variations and mutations in the TRNT1 gene, providing valuable information for diagnosing and treating patients with tRNA-nucleotidyltransferase deficiency and related conditions.
For more information on TRNT1 gene testing and related articles, researchers and healthcare providers can refer to the Genetic Testing Registry, as well as scientific publications and health resources such as Wiley Online Library.
Scientific Articles on PubMed
The TRNT1 gene is associated with a rare genetic disorder called TRNT1 deficiency, which affects the production of functional transfer ribonucleic acids (tRNA) in cells. This deficiency leads to various health conditions and diseases.
Scientific articles on PubMed provide additional information about the TRNT1 gene, its related diseases, and testing procedures. The articles cover a wide range of topics, including changes and modifications in the TRNT1 gene, the role of TRNT1 in cca-adding of tRNA, and the impact of TRNT1 deficiency on various systems in the body.
Some of the articles listed on PubMed focus on the identification of TRNT1 variant names and their correlation with specific diseases. These articles provide valuable insights into the genetic basis of TRNT1 deficiency and its implications for diagnostic tests and genetic counseling.
Researchers have also used PubMed to publish articles on other genes that cause similar genetic disorders and their relationships with TRNT1 deficiency. These articles explore the interconnectedness of different genes and highlight the complexity of genetic diseases.
In addition to scientific articles, PubMed provides access to other resources such as genetic databases and registries. These resources offer a comprehensive catalog of information on TRNT1 deficiency and related conditions, facilitating further research and understanding.
Patients, healthcare professionals, and researchers can use PubMed to stay updated on the latest research findings, clinical trials, and treatment options for TRNT1 deficiency. The references in the articles allow readers to explore the sources in more detail and access the full texts of the publications.
In summary, PubMed offers a valuable platform for accessing scientific articles on the TRNT1 gene and its associated diseases. Through this database, researchers can explore the genetic basis of TRNT1 deficiency, its impact on health, and potential testing and treatment options.
| TRNT1 gene | Associated with TRNT1 deficiency |
| Genetic databases | Provide additional resources |
| Scientific articles | Explore TRNT1 deficiency and related diseases |
| Testing and modification | Implications for diagnostic tests |
| Registries | Facilitate further research |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. This scientific resource, provided by Wiley, is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases and conditions.
The TRNT1 gene, also known as CCA-adding enzyme, is listed in the OMIM catalog. This gene is responsible for encoding the tRNA nucleotidyltransferase enzyme, which plays a crucial role in a variety of cellular processes.
Deficiency in the TRNT1 gene can cause a rare genetic disorder known as TRNT1 deficiency. This condition affects the modification of transfer RNA (tRNA) molecules, leading to various health problems.
In the OMIM catalog, the TRNT1 gene is listed along with information about the associated genetic diseases and conditions. Each gene entry provides details about the gene’s function, known variants, associated diseases, and related articles and references.
If you are interested in genetic testing for TRNT1 deficiency or other genetic diseases related to tRNA nucleotidyltransferase modifications, the OMIM catalog can serve as a valuable resource. It provides information on available genetic tests, names of testing laboratories, and additional resources for further information.
The OMIM catalog also offers links to related databases and resources, such as PubMed, where you can find more articles and research papers on TRNT1 deficiency and related topics.
By using the OMIM catalog, researchers, clinicians, and individuals can access a wealth of information about genes, genetic diseases, and the underlying molecular mechanisms. This knowledge can help in understanding the genetic basis of various conditions and guide further research and clinical interventions.
Gene and Variant Databases
A deficiency in the TRNT1 gene has been found to cause various conditions in human health. To understand the genetic changes and modifications associated with this gene, several databases exist that provide comprehensive information on the gene and its variants.
1. PubMed: This scientific database offers a vast collection of articles on TRNT1 gene and its related topics. Researchers and scientists can refer to these articles to gather more knowledge about the gene and its functions.
2. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes, genetic disorders, and their associated phenotypes. It includes data on TRNT1 deficiency and other diseases caused by mutations in this gene.
3. Wiley Registry of Tumor Nomenclature and Naas: These databases specifically focus on the tumor-related variants of the TRNT1 gene. They provide a comprehensive catalog of variant names and their associated conditions.
4. Genetic Testing Registry: This database provides information on various genetic tests available for TRNT1 gene variants. It includes details such as the type of test, the laboratories performing the tests, and the purpose of the tests.
5. TRNADB: Dedicated to tRNA-nucleotidyltransferase (TRNT1) and other genes involved in tRNA modification, this database offers valuable information on the gene, its variants, and the complexes it forms with other proteins.
6. GeneCards: GeneCards serves as a comprehensive resource providing information on genes, including TRNT1, and their associated diseases, proteins, and pathways. It offers a wide range of data on the gene and its functions.
Each of these databases plays a crucial role in facilitating research and understanding of the TRNT1 gene and its variants. Scientists and medical professionals can utilize these resources to gather information, identify potential genetic causes of diseases, and develop appropriate diagnostic and therapeutic approaches.
References
The following references provide additional information on the TRNT1 gene and its related genetic conditions:
- Genetic Testing Registry (GTR): Provides information on testing for genes related to TRNT1 deficiency and other genetic conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr/
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. Information on TRNT1 deficiency and related conditions can be found under OMIM entry number TRNT1. Available at: https://www.omim.org/
- Pubmed: A database of scientific articles. Searching for “TRNT1 gene” or “TRNT1 deficiency” will provide a list of articles related to this gene. Available at: https://pubmed.ncbi.nlm.nih.gov/
Additional resources for genetic information include:
- Genetics Home Reference: Provides consumer-friendly information on genetic conditions, including TRNT1 deficiency. Available at: https://ghr.nlm.nih.gov/
- Wiley Online Library: A collection of scientific articles. Searching for “TRNT1” or “trna-nucleotidyltransferase 1” will yield relevant articles. Available at: https://onlinelibrary.wiley.com/
Changes to this gene, such as genetic modifications or rare variants, can cause diseases and disorders. Proper testing and examination of the TRNT1 gene can provide valuable information on associated conditions.
TRNT1 plays a crucial role in the CCA-adding enzyme complex, which adds the CCA sequence to the 3′ end of transfer RNA (tRNA) molecules. Deficiencies in TRNT1 can lead to various genetic conditions and impact the function of tRNA in cells.