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TXNL4A gene is a human gene. It is also known as the U5-15KD gene and belongs to the spliceosomal genes group. This gene has been linked to a genetic disorder called Burn-McKeown syndrome, which is characterized by various physical and intellectual disabilities. The TXNL4A gene plays a crucial role in the alternative splicing process, where it is involved in the maturation of messenger RNA molecules.

According to the information obtained from the scientific databases such as PubMed, OMIM, and other genetic testing resources, mutations in the TXNL4A gene have been associated with Burn-McKeown syndrome. These variations in the gene can lead to changes in the structure or function of the gene product, resulting in the symptoms observed in affected individuals.

As of now, there are additional genes associated with similar conditions or diseases related to the TXNL4A gene. These genes can be found in the genetic testing registry and other scientific publications. Various tests and resources are available for diagnosing and understanding these conditions, with the aim of providing better healthcare and support for individuals affected by these genetic disorders.

Genetic changes in the TXNL4A gene have been found to be associated with various health conditions. The TXNL4A gene, also called the U5-15KD gene, is a component of the spliceosomal complex. It plays an important role in the splicing of pre-messenger RNA, which is essential for proper gene expression.

One health condition related to genetic changes in the TXNL4A gene is the Burn-McKeown syndrome. This syndrome is characterized by intellectual disability, delayed speech and language development, and distinctive facial features. Genetic testing can help identify changes in the TXNL4A gene that are associated with this syndrome. Additional information on the Burn-McKeown syndrome can be found on the Online Mendelian Inheritance in Man (OMIM) database.

Genetic changes in the TXNL4A gene can also be related to other syndromes and diseases. It is important to note that the TXNL4A gene is not the only gene associated with these health conditions. There are many other genes involved, and each gene may have different effects on health.

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Further research and scientific studies are needed to fully understand the role of genetic changes in the TXNL4A gene and their impact on health conditions. The PubMed database can be a valuable resource for accessing scientific articles and references related to this topic. Additionally, genetic testing and diagnostic tests may be available to determine if specific gene changes are present.

For more information on specific gene changes and associated health conditions, it is recommended to consult reputable resources such as the OMIM database, scientific journals, and genetic testing laboratories. These resources can provide comprehensive information on the genes, diseases, and conditions related to the TXNL4A gene and other genes.

References:

  1. OMIM database – TXNL4A gene (link)
  2. PubMed database – TXNL4A gene (link)
  3. Genetics Home Reference – TXNL4A gene (link)

Please note that the listed resources are for informational purposes only and should not be used for diagnosis or treatment without consulting a healthcare professional.

See also  B3GLCT gene

Burn-McKeown syndrome

Burn-McKeown syndrome is a genetic condition caused by changes in the TXNL4A gene. It is also known as U5-15KD or spliceosomal gene-related syndrome.

This syndrome is listed in various genetic databases and registry resources, such as OMIM and Gene Catalog. It is characterized by developmental and growth delays, intellectual disability, facial dysmorphism, and other physical abnormalities.

There have been scientific articles and references related to Burn-McKeown syndrome on PubMed, providing additional information and resources for genetic testing and conditions related to this gene.

Testing for changes in the TXNL4A gene can be done through genetic tests and sequencing. These tests can help in diagnosing the syndrome and provide insights into the underlying genetic variant.

Further research and studies are ongoing to understand the exact mechanism and impact of this gene variant on health and related conditions.

Resources Additional Information
PubMed Scientific articles and references
OMIM Genetic database for rare diseases
Gene Catalog Registry and catalog of genes

Other Names for This Gene

The TXNL4A gene, also known as U5-15KD or REN-BP, is referred to by various names in different research articles, databases, and resources.

Some of the other names for this gene include:

  • Spliceosomal U5-15kD
  • U5 small nuclear ribonucleoprotein 15 kDa protein
  • Ribozyme-binding protein p15.5
  • TSR3
  • U5-15K
  • Burn-McKeown syndrome (associated with genetic variants of this gene)

These additional names may be used in scientific literature, databases, and testing catalogs. The gene is also associated with certain conditions and diseases, and its genetic variants have been identified in different populations. Testing and research on this gene, as well as its related genes and spliceosomal changes, are referenced in articles and resources available for further information.

For more information on this gene, its related genes, diseases, and genetic testing, you can refer to resources such as PubMed, OMIM, health databases, and scientific publications.

Additional Information Resources

For more information on the TXNL4A gene, related genes, and genetic testing, you can refer to the following resources:

  • OMIM Catalog: OMIM is a comprehensive database that provides information on the relationships between genes, genetic variants, and diseases. The catalog lists conditions associated with the gene TXNL4A and related genes.
  • PubMed Database: PubMed is a scientific database that contains a vast collection of research articles. You can search for articles related to TXNL4A, spliceosomal genes, and other genetic changes associated with this gene.
  • Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for a variety of conditions. You can find information on the availability of genetic tests specifically related to the TXNL4A gene.
  • Burn-McKeown Syndrome Organization: The Burn-McKeown Syndrome Organization is a resource for patients and families affected by Burn-McKeown Syndrome, a condition related to defects in the TXNL4A gene. They offer information, support, and resources for individuals with this condition.
  • Additional Resources: There are several other resources where you can find information on the TXNL4A gene and related topics. Some additional resources include gene-specific websites, scientific journals, and genetic databases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a collection of genetic tests and related information provided by various laboratories and healthcare providers. These tests can help in the diagnosis or identification of genetic changes that may be associated with specific diseases or conditions.

In the context of the TXNL4A gene and related syndrome called Burn-McKeown syndrome, several genetic tests are listed in the GTR. These tests focus on the genes involved in the U5-15KD gene, which is a component of the spliceosomal complex.

See also  RYR1 gene

Testing for changes in the TXNL4A gene can provide valuable information about the genetic basis of Burn-McKeown syndrome and related conditions. The GTR provides a comprehensive list of these tests along with their names, available resources, and references to scientific articles and databases.

These tests can help determine if there are any genetic variants or changes in the TXNL4A gene that may be causing or contributing to the development of the syndrome. The results of these tests can assist healthcare providers in making accurate diagnoses and developing appropriate treatment strategies.

Additionally, the GTR provides information about other genetic tests that may be relevant to Burn-McKeown syndrome or similar conditions. This includes tests for genes related to the syndrome, as well as tests for genes involved in related diseases or conditions.

The GTR also provides links to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains detailed information about specific genes, genetic disorders, and associated conditions. These resources can help healthcare providers and researchers access the most up-to-date information about the TXNL4A gene and its role in health and disease.

In conclusion, the GTR serves as a valuable resource for accessing information about genetic tests related to the TXNL4A gene and Burn-McKeown syndrome. It provides a comprehensive list of tests, along with relevant scientific articles, references, and resources. These resources can aid in the diagnosis, management, and research of this rare genetic disorder.

Scientific Articles on PubMed

The TXNL4A gene is a U5-15KD spliceosomal protein that plays an important role in genetic processes. It has been linked to various health conditions and diseases. If you are looking for scientific articles and information on this gene, PubMed is an excellent resource.

PubMed is one of the largest databases of scientific articles in the world. It gathers articles from various reputable sources and allows access to a wide range of scientific literature. PubMed is a valuable tool for researchers and scientists looking for information on specific genes, including TXNL4A.

To find articles related to the TXNL4A gene, you can search for its gene name, “TXNL4A,” in PubMed. This will yield a list of articles that involve this gene. You can further refine your search by adding keywords related to specific conditions or diseases you are interested in.

There are several other databases and resources that can also provide information on the TXNL4A gene. One such resource is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic conditions and genes associated with human diseases. OMIM contains information on the TXNL4A gene and its role in various diseases and syndromes.

Additionally, there are genetic testing and registry databases that can provide information on testing and variant names associated with the TXNL4A gene. These databases can help clinicians and researchers understand the impact of gene changes on health and identify potential conditions that may be associated with specific gene variants.

When searching for information on the TXNL4A gene, it is important to consider the most up-to-date information available. Scientific knowledge and understanding of genes and their roles in health and diseases are constantly evolving. Therefore, it is recommended to review the latest research and findings to ensure you have the most accurate and comprehensive information.

In conclusion, if you are looking for scientific articles and information on the TXNL4A gene, PubMed is a valuable resource. It provides access to a wide range of articles and allows you to explore related genes, diseases, and conditions. Remember to also consult other databases and resources to gather additional information and references.

See also  TAT gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic conditions. It provides extensive information on various genetic disorders, syndromes, and related genes. Researchers and healthcare professionals rely on OMIM to access a comprehensive database of genetic information for clinical and research purposes.

The catalog includes genes and genetic conditions that have been extensively studied and documented through scientific research. Each gene has a unique name, symbol, and description, along with links to additional resources and databases for more detailed information.

OMIM comprises a vast collection of genes associated with various diseases and conditions. One such gene is the TXNL4A gene, also known as the U5-15kD gene. This gene is involved in spliceosomal related pathways and has been linked to the Burn-McKeown syndrome and other related conditions.

The catalog provides information on the variant names and aliases associated with each gene, along with scientific references and articles from PubMed. These references offer insights into the research conducted on specific genes and their role in various diseases.

Genetic Testing and Resources

OMIM serves as an invaluable resource for genetic testing and research. It provides a comprehensive list of genes and associated diseases, enabling healthcare professionals to identify and diagnose genetic disorders accurately. The catalog facilitates the understanding of the underlying genetic causes of diseases and supports the development of targeted therapies.

In addition to the gene and disease information, OMIM also offers resources for genetic testing. These resources help medical professionals and researchers access reliable genetic testing services to confirm the presence of specific genetic variations.

The catalog of genes and diseases from OMIM is continuously updated with the latest scientific discoveries and research findings. It plays a vital role in advancing the field of genetics and improving health outcomes for individuals affected by genetic conditions.

References:

Gene and Variant Databases

When researching the TXNL4A gene and its variants, it is important to consult various gene and variant databases that provide valuable information and references. These databases compile data on genes, variants, and their associations with different diseases and health conditions.

One such database is called the Burn-McKeown Syndrome Gene Catalog. It contains a registry of gene variants associated with Burn-McKeown syndrome, a rare genetic disorder. The catalog provides information on the gene changes, associated symptoms, and available tests.

Another important database is OMIM (Online Mendelian Inheritance in Man). It is a comprehensive resource that provides detailed information on human genes and genetic disorders. OMIM compiles scientific articles, references, and other resources related to genes and their associated conditions.

For gene and variant testing, there are also databases like GeneTests that provide access to laboratories offering genetic testing services. These databases list the tests available for specific genes or syndromes, including the TXNL4A gene. They also provide information on the conditions the tests are used for and additional resources.

When researching specific gene variants, it is important to consult PubMed, a widely used database of scientific articles. PubMed allows users to search for research articles related to specific gene variants, variant names, and related conditions. This can provide additional scientific information and references.

In summary, gene and variant databases provide valuable information and resources for researching the TXNL4A gene and its associated variants. These databases include the Burn-McKeown Syndrome Gene Catalog, OMIM, GeneTests, and PubMed.

References

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