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The LDHB gene encodes the lactate dehydrogenase-B (LDH-B) enzyme, which is one of the four subunits of lactate dehydrogenase. LDH-B is responsible for the conversion of L-lactate to pyruvate. The LDHB gene is also known by other names, such as LDH2 and LDHM.

The LDHB gene is listed on various genetic databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. Multiple articles and scientific resources have made available information on this gene and its related genetic conditions. Testing for LDHB gene variants and deficiency can be done through different genetic tests, which are often available through testing catalogs and genetic testing companies.

Changes in the LDHB gene can lead to various conditions and diseases. One well-known variant is the LDHB deficiency, which results in the accumulation of lactate in the body. This can cause health problems and symptoms such as muscle weakness, fatigue, and exercise intolerance. A detailed registry of LDHB gene variations and related information is maintained to help researchers and healthcare professionals better understand these conditions and provide accurate diagnoses and treatments.

Overall, the LDHB gene plays a crucial role in the conversion of lactate to pyruvate and is associated with various genetic conditions. Its importance is highlighted by the vast amount of scientific literature and resources available on this gene and its variants. Researchers continue to explore the functions and implications of the LDHB gene in various diseases and disorders related to lactate metabolism.

Genetic changes in the LDHB gene can lead to various health conditions. LDHB, which stands for lactate dehydrogenase-B, is a gene that provides instructions for making one of the subunits of the lactate dehydrogenase enzyme.

Lactate dehydrogenase is an enzyme that plays a crucial role in the process of converting pyruvate into lactate. It consists of two different subunits, LDHA and LDHB, with LDHB being one of the subunits encoded by the LDHB gene.

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Changes or mutations in the LDHB gene can result in the production of a defective LDHB subunit or a decrease in the amount of LDHB produced. These genetic changes can lead to various health conditions related to LDHB deficiency.

One health condition associated with LDHB deficiency is exercise intolerance. The lack of functional LDHB impairs the ability of the body to convert pyruvate into lactate during physical activity, leading to fatigue and muscle weakness.

Additionally, genetic changes in the LDHB gene have been linked to other metabolic disorders, including lactic acidosis. Lactic acidosis is a condition characterized by the buildup of lactic acid in the blood, which can cause symptoms such as nausea, vomiting, and rapid breathing.

For further information on the health conditions related to LDHB genetic changes, there are several resources available. Scientific articles can be found on PubMed, a database of biomedical research literature. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic diseases, including those related to LDHB. Genetic testing companies also offer tests that can detect genetic changes in the LDHB gene.

In conclusion, genetic changes in the LDHB gene can result in various health conditions related to LDHB deficiency. Additional information and resources on these conditions can be found in scientific articles, the OMIM catalog, genetic testing companies, and other databases.

See also  PLAGL1 gene

Lactate dehydrogenase deficiency

Lactate dehydrogenase deficiency, also known as LDH-B deficiency, is a genetic condition that affects the production of the enzyme lactate dehydrogenase. This enzyme plays a crucial role in the production of energy in cells by converting pyruvate to lactate. Mutations in the LDHB gene can lead to a decrease or absence of this enzyme, resulting in a build-up of pyruvate and a decrease in lactate production.

A registry of individuals with LDH-B deficiency has been created to gather information on the different forms of the condition and their impact on health. Genetic testing is available to identify mutations in the LDHB gene and confirm a diagnosis of LDH-B deficiency. This testing can also help identify carriers of the gene mutation and provide information on the risk of passing on the condition to future generations.

Scientific databases such as OMIM, PubMed, and other resources provide additional information on LDH-B deficiency and related diseases. These databases catalog genetic changes in the LDHB gene, as well as changes in other genes and conditions associated with LDH-B deficiency.

References to articles and studies on LDH-B deficiency can be found in these databases, providing further insight into the condition and potential treatment options. Changes in the LDHB gene can lead to different forms of LDH-B deficiency, and understanding these variations can help guide treatment decisions.

Genetic testing for LDH-B deficiency is typically performed through blood or saliva samples. The results of these tests can help healthcare providers determine appropriate treatment strategies and provide information on the prognosis for individuals with LDH-B deficiency.

Overall, resources such as the LDHB gene registry, genetic testing, scientific databases, and related articles contribute to a better understanding of lactate dehydrogenase deficiency and the development of targeted interventions for affected individuals.

Other Names for This Gene

  • LDHB gene
  • Lactate dehydrogenase B
  • LDH-B
  • Pyruvate dehydrogenase B
  • Lactate dehydrogenase 1B
  • LDH-1 subunit B

This gene is also known by several other names in scientific literature and databases. These names are used to refer to the same gene and its different forms and variants. They are used in genetic testing, research articles, and resources related to genetic conditions and health information.

The LDHB gene is listed in databases such as PubMed, OMIM, and the Catalog of Genes and Genetic Diseases. These resources provide information on the gene’s function, genetic changes, associated diseases, and scientific references.

LDHB codes for the protein lactate dehydrogenase subunit B, which is one of the subunits that make up the enzyme lactate dehydrogenase. This enzyme plays a crucial role in converting pyruvate to lactate, and its deficiency or changes in its genetic sequence can lead to various health conditions.

Understanding the different names and forms of the LDHB gene is important when researching genetic conditions and conducting genetic tests. It helps ensure accurate interpretation of test results and facilitates communication among healthcare professionals, researchers, and individuals affected by these conditions.

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic diseases and traits. It includes genetic information on the LDHB gene, as well as other genes and conditions related to lactate dehydrogenase-B deficiency. You can find more information on the OMIM website.

  • PubMed: PubMed is a widely-used database of scientific articles. Searching for “LDHB” or “lactate dehydrogenase-B” in PubMed can help you find relevant articles and studies on this gene and its different variants. It is a valuable resource for finding more information on the LDHB gene and related conditions.

  • Genetic Testing: Genetic testing can be performed to detect changes in the LDHB gene. Different types of tests are available, including sequencing of the gene, testing for specific variants, and more. These tests can provide valuable information on the LDHB gene and its role in certain diseases or conditions. Consult with a healthcare professional or a genetic testing provider for more information on the available testing options.

  • Other Genetic Resources: In addition to OMIM and PubMed, there are other databases and resources that provide information on the LDHB gene, its subunits, and variant forms. These resources can include genetic databases, scientific catalogs, and other sources of genetic information. Some examples include gene-specific databases, such as the GeneCards database, which provides detailed genetic and functional information on genes like LDHB.

See also  SPG11 gene

Tests Listed in the Genetic Testing Registry

The LDHB gene, also known as lactate dehydrogenase-B, produces a subunit of the enzyme lactate dehydrogenase. Genetic testing can be used to identify changes (variants) in this gene that are associated with different health conditions and diseases.

The Genetic Testing Registry lists the following tests related to LDHB:

  • LDH deficiency: This test detects variants in the LDHB gene that can cause lactate dehydrogenase deficiency, which is a rare metabolic disorder.
  • Pyruvate dehydrogenase complex deficiency: This test detects variants in the LDHB gene that are associated with this condition, which affects the body’s ability to convert pyruvate into energy.

These tests provide important information for genetic counselors, healthcare professionals, and individuals interested in their genetic health. They help in the diagnosis and management of related conditions.

Additional resources for scientific and genetic information about LDHB and related genes can be found in databases such as OMIM, PubMed, and other genetic testing and health resources.

It’s important to note that the information in the Genetic Testing Registry is constantly updated as new tests are developed and as knowledge about genes and genetic conditions advances. Therefore, it’s recommended to regularly check the registry for any changes or updates in the listed tests.

Scientific Articles on PubMed

The LDHB gene, also known as lactate dehydrogenase B, encodes a protein that is involved in the conversion of pyruvate to lactate. Mutations in this gene can lead to various conditions and diseases that can have an impact on health.

The OMIM database is a valuable resource for researchers studying genetic diseases and provides information on the genetic changes associated with different forms of LDHB deficiency. The database lists scientific articles, genetic testing resources, and additional information on this gene.

PubMed is another useful database for finding scientific articles related to LDHB. Using keywords such as “LDHB gene” or “lactate dehydrogenase B,” researchers can find relevant articles on the topic. These articles can provide insight into the role of LDHB in different diseases and conditions.

Genetic testing can be done to identify mutations or variants in the LDHB gene. This type of testing can help diagnose LDHB deficiency and guide treatment plans. It can also provide information on the inheritance pattern of the condition and help with family planning.

The LDHB gene has two subunits, LDHB-A and LDHB-B, and mutations in either subunit can lead to LDHB deficiency. The LDHB gene is a part of a larger gene family called lactate dehydrogenase genes, which also includes other forms of lactate dehydrogenase enzymes.

The LDHB gene is listed in various genetic databases and catalogs, such as OMIM and the NCBI Gene database. These resources provide information on the gene structure, protein function, and associated diseases. Researchers can use these databases to explore the various aspects of the LDHB gene.

Scientists are constantly conducting research on the LDHB gene and its role in different diseases and conditions. By studying scientific articles on PubMed, researchers can stay up to date with the latest findings and contribute to our understanding of LDHB and its implications for health.

See also  COL11A2 gene

Catalog of Genes and Diseases from OMIM

The OMIM database provides comprehensive information on genetic genes and diseases, including the LDHB gene. LDHB, also known as lactate dehydrogenase-B, is responsible for the conversion of pyruvate to lactate. Changes or variations in this gene can lead to LDHB deficiency, a genetic condition associated with the build-up of lactate in the body.

In the OMIM database, LDHB is listed under various names, including LDH-B, TS, LD1-B, and NFDM1. The gene has different forms or variants, which are documented in the registry with specific reference numbers and associated information. This information includes scientific articles, references to other databases, and related genetic testing resources.

For LDHB deficiency and related diseases, OMIM provides a catalog of conditions and their associated genes. In this catalog, you can find information on the symptoms, inheritance patterns, and genetic tests available for diagnosing these conditions. Additionally, OMIM references relevant articles from PubMed and other scientific sources for further reading.

OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. Its catalog of genes and diseases, including LDHB and related conditions, ensures access to up-to-date information on genetic disorders and the genes involved in their development.

References:

  • LDHB gene – OMIM Entry: https://omim.org/entry/150100
  • LDH-B gene – OMIM Entry: https://omim.org/entry/150100

Additional Resources:

Gene and Variant Databases

When researching diseases and genetic conditions related to the LDHB gene, it is important to consult various gene and variant databases for information. These databases provide a comprehensive catalog of genetic variants, their associated diseases, and relevant scientific articles.

One of the most widely used gene databases is GenBank, which is maintained by the National Center for Biotechnology Information (NCBI). GenBank contains a large collection of DNA sequences, including the LDHB gene.

Another useful database is PubMed, which is a repository of scientific articles. By searching for “LDHB gene” in PubMed, one can find a wealth of information on the gene’s function, role in different diseases, and potential therapeutic targets.

For a more focused approach, there are specific databases that cater to genetic information related to the LDHB gene. One example is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders and their associated genes. OMIM lists LDHB gene as one of the genes responsible for the deficiency of lactate dehydrogenase-B.

When searching for genetic variants of the LDHB gene, the Human Gene Mutation Database (HGMD) is a valuable resource. HGMD provides curated information on genetic variants and their association with various diseases.

In addition to these databases, there are also genetic testing resources available for detecting variants in the LDHB gene. These testing resources can be utilized to identify specific genetic variants that may be implicated in certain diseases or conditions.

It is important to note that different databases may provide different versions of the LDHB gene sequence, as well as variations in gene names and subunits. Therefore, it is advisable to consult multiple databases and cross-reference the information found.

Overall, gene and variant databases play a key role in understanding the LDHB gene’s function, its association with various diseases, and the potential implications for diagnosis, treatment, and research.

References

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