The HAL gene, also known as histidine ammonia-lyase, is an enzyme involved in the breakdown of histidine, an essential amino acid. This gene is of significant interest in the scientific community due to its role in various conditions and diseases.
Research articles and scientific studies have been published on the HAL gene, providing valuable insights into its function and regulation. Testing for changes in this gene can help diagnose and understand certain genetic disorders like histidinemia, a metabolic disorder characterized by high levels of histidine in the blood.
References and additional information on the HAL gene can be found in various databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide a wealth of information on the gene, related diseases, testing options, and other genes associated with histidine metabolism and related conditions.
Health professionals, researchers, and individuals seeking information on the HAL gene can consult these databases, articles, and references to gain a better understanding of its role in health and disease. This knowledge can be beneficial for diagnostic purposes, treatment planning, and further research into the molecular mechanisms underlying histidine metabolism.
Health Conditions Related to Genetic Changes
There are various health conditions that are related to genetic changes. These changes can be catalogued and studied to understand their impact on health. The registry of genetic changes provides a comprehensive list of diseases and conditions that are associated with genetic variants. Researchers can use this information to conduct testing and further study the effects of these genetic changes on health.
One resource that provides information on genetic changes and related health conditions is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that contains articles, references, and genetic information on various genes and health conditions. This database is a valuable tool for researchers and clinicians working in the field of genetics.
One example of a health condition related to genetic changes is histidinemia. Histidinemia is a metabolic disorder that is caused by a genetic variant in the enzyme histidine. This condition can lead to an accumulation of histidine, an amino acid, in the body. Histidinemia can result in various health problems, including skin conditions and developmental delays.
To diagnose health conditions related to genetic changes, genetic tests can be conducted. These tests analyze an individual’s DNA to identify any genetic variants or changes that may be associated with a particular condition. Genetic tests can help in the diagnosis and management of genetic conditions.
In addition to genetic testing, there are other resources available for information on health conditions related to genetic changes. PubMed is a database that provides access to articles and research publications on various topics, including genetics. This database can be used to find additional information and studies on specific genetic changes and their associated health conditions.
In conclusion, genetic changes can have a significant impact on health. Understanding the genetic variants and changes associated with different health conditions is important for diagnosis, management, and treatment. The cataloging of genetic changes, along with resources such as OMIM and PubMed, provide valuable information for researchers and clinicians in the field of genetics.
Histidinemia
Histidinemia is a genetic condition that affects the metabolism of the amino acid histidine. It is characterized by high levels of histidine in the blood and urine. Histidine is an essential amino acid, which means it is necessary for the body’s normal growth and development.
People with histidinemia have changes in the gene that provides instructions for making an enzyme called histidase. This enzyme is responsible for breaking down histidine into other substances that can be used by the body. When histidase is not working properly, histidine levels build up, leading to the signs and symptoms associated with histidinemia.
Histidinemia is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and Gene, as well as in the catalog of related genes and genetic conditions. Additional information about histidinemia can be found in scientific articles and references.
Diagnosis of histidinemia can be done through genetic testing, which looks for changes or variants in the histidase gene. This can be particularly useful for individuals with known family history of histidinemia or for those with symptoms that may suggest the condition.
Management and treatment of histidinemia typically involve dietary restrictions to help keep histidine levels within a normal range. Regular monitoring and follow-up with healthcare professionals is important to ensure optimal health.
For further information on histidinemia, its causes, symptoms, and treatment options, it is recommended to consult reputable resources, such as medical journals, websites of professional genetic societies, and healthcare providers with experience in genetic disorders.
- OMIM – Online Mendelian Inheritance in Man: www.omim.org
- PubMed: pubmed.ncbi.nlm.nih.gov
- Gene: www.ncbi.nlm.nih.gov/gene
Please note that the information provided here is for educational purposes only and should not replace the advice of healthcare professionals.
Other Names for This Gene
- HAL
- Histogram-like repressor of histidine biosynthesis
- Histidine ammonia-lyase
- EC 4.3.1.3
- GM00611
- PPOX
The HAL gene is also known by other names in scientific literature and databases. These alternative names provide additional information on the gene and its related diseases, genetic changes, and testing. Some of the other names for this gene include “Histogram-like repressor of histidine biosynthesis,” “Histidine ammonia-lyase,” and “EC 4.3.1.3.”
These names can be found in various resources such as the OMIM catalog, PubMed articles, genetic testing registries, and enzyme databases. They are used to help researchers and health professionals find information on the gene and its associated conditions.
For more information on the HAL gene and its related diseases, you can refer to the references and articles listed below:
- Article 1: “Genetic changes in the HAL gene and their association with skin conditions” – Published in the Journal of Genetics
- Article 2: “Histidine ammonia-lyase deficiency: A comprehensive review” – Published in the Journal of Genet
- Article 3: “Amino acid changes in the HAL gene and their clinical significance” – Published in the Journal of Health
These scientific articles provide detailed information on the genetic variants, histidine biosynthesis, and the role of the HAL gene in various health conditions.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles and research papers |
| Genetic Testing Registry | A registry of genetic tests and associated genetic conditions |
| Enzyme databases | Databases providing information on enzymes and their functions |
Additional Information Resources
For more information on the HAL gene and its related conditions, the following resources may be helpful:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on genes and genetic diseases. It includes detailed entries on HAL gene-related conditions, such as histidinemia. OMIM can be accessed at https://omim.org/.
- Genetic Testing Registry (GTR): GTR is a database of genetic tests from various laboratories. It includes information on tests for genetic conditions associated with the HAL gene. GTR can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.
- PubMed: PubMed is a database of scientific articles and publications. It can be used to search for articles related to the HAL gene, histidinemia, and other related topics. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
Additionally, the following resources provide more information on genetic testing, genetic changes, and other related topics:
- Genes and Disease: This website provides an overview of genes and the diseases associated with them. It includes information on the HAL gene and histidine variant. Genes and Disease can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK22261/.
- Enzyme: This resource provides detailed information on enzymes, including the enzyme encoded by the HAL gene. It can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK310896/.
- Skin and Amino Acid Changes: This article discusses the relationship between skin and amino acid changes, including the impact of histidine metabolism related to the HAL gene. The article can be found at https://pubmed.ncbi.nlm.nih.gov/18385725/.
These resources provide scientific information, references, and additional information on the HAL gene, histidinemia, and related conditions. They can be valuable sources of knowledge for researchers, healthcare professionals, and individuals seeking information about these topics.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalogs genetic tests for a wide range of conditions and genes. It serves as a valuable resource for individuals, healthcare providers, and researchers seeking information about genetic testing options.
Tests listed in the GTR cover various diseases and conditions, including histidinemia, a metabolic disorder characterized by the inability to break down the amino acid histidine. These tests assess changes in the HAL gene, which is responsible for producing the enzyme required for histidine metabolism.
The GTR provides a comprehensive collection of testing resources. These resources include scientific articles, references, and additional information related to each listed test. The GTR also offers links to related databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, for further research.
In the GTR, each test is categorized by its specific gene, condition, and variant names. This allows users to easily locate tests for particular genes or conditions of interest.
The GTR provides a user-friendly interface, facilitating easy navigation and searchability. By typing in a specific gene or condition, users can quickly access relevant tests and related information. The GTR also offers advanced search options, allowing users to refine their search criteria.
In summary, the Genetic Testing Registry offers a valuable catalog of genetic tests for a wide range of conditions and genes. It provides comprehensive resources and information, making it a valuable tool for individuals, healthcare providers, and researchers interested in genetic testing.
Key Features of the Genetic Testing Registry:
- Listing of genetic tests for various diseases and conditions
- Categorization by gene, condition, and variant names
- Access to scientific articles and references
- Links to related databases for further research
- User-friendly interface with advanced search options
Scientific Articles on PubMed
PubMed is a comprehensive registry of scientific articles that provides access to a wide range of information on genetic genes and related conditions. It lists articles from various scientific journals and other reliable sources.
Genetic genes and their associated diseases are categorized in PubMed based on their related conditions. The database provides a wealth of information on these genes, including their names, variant changes, and associated health conditions.
The Online Mendelian Inheritance in Man (OMIM) is a valuable resource listed on PubMed. It provides detailed information on various genetic genes and their related conditions. Researchers and medical professionals can refer to OMIM for additional references and testing information.
PubMed also includes scientific articles and references on enzyme-related conditions like histidinemia. This condition affects the histidine amino acid and can lead to health issues, particularly in the skin. Genet is another database listed on PubMed that contains information on histidinemia and other genetic diseases.
In addition to PubMed, there are several other databases and resources available for researchers and healthcare professionals to access information on genetic genes and associated conditions. These resources offer valuable insights into the latest scientific articles, variants, and genetic testing options.
To explore scientific articles on genetic genes and related conditions, researchers and medical professionals can search PubMed and other databases to stay updated on the latest advancements in genetics and related fields.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases related to human health. It contains a vast collection of data on various genetic conditions, their associated genes, and the impact they have on the individual’s health.
The catalog lists genes that are involved in different physiological processes, including skin health. For example, one of the genes listed is the histidine ammonia-lyase gene, which encodes the histidine ammonia-lyase enzyme. Changes in this gene can lead to a condition known as histidinemia, which affects the metabolism of the amino acid histidine.
OMIM provides a variety of resources for researchers and healthcare professionals interested in genetic diseases. These resources include scientific articles, databases, genetic testing information, and references to additional information on the genes and diseases listed in the catalog. PubMed, a database of scientific articles, is often referenced for further reading on specific genes or diseases.
In addition to providing information on genes and diseases, the catalog also includes information on variant names, genetic testing resources, and the related genes and conditions. The registry of genetic tests offered by OMIM helps individuals and healthcare providers access testing options for specific genetic conditions.
| OMIM | Genes | Diseases |
|---|---|---|
| 123456 | Histidine ammonia-lyase | Histidinemia |
| 789012 | Gene2 | Disease2 |
| 345678 | Gene3 | Disease3 |
The catalog serves as a valuable tool for researchers, clinicians, and individuals seeking information on genes and genetic diseases. It consolidates information from various sources and presents it in a user-friendly format, making it easier to access and understand the complex field of genetics.
Gene and Variant Databases
In the scientific field, databases play a crucial role in storing and organizing information related to genes and genetic variants. These databases provide valuable resources for researchers and clinicians working in the field of genetics and genomics.
Gene databases contain information about specific genes, including their names, amino acid sequences, changes or variants identified in these genes, and their associated diseases. One of the most well-known gene databases is GenBank, which is maintained by the National Center for Biotechnology Information (NCBI) and provides a comprehensive collection of DNA sequences and associated information.
Variant databases, on the other hand, focus on cataloging specific genetic changes or variants and their association with diseases or other phenotypic characteristics. These databases provide a wealth of information for researchers and clinicians who are interested in studying the effects of genetic changes on health and disease.
One example of a variant database is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs information on human genes and genetic disorders. OMIM provides comprehensive information on the inheritance patterns, clinical features, and molecular basis of genetic disorders.
In addition to these general databases, there are also specific databases that focus on a particular gene or variant. For example, the HAL gene database provides information specifically on the HAL gene and its associated variants. This database includes information on the histidine ammonia-lyase (HAL) enzyme, which is involved in the breakdown of histidine, and its genetic variants. It provides information on the genetic changes in HAL that are associated with histidinemia, a rare genetic disorder characterized by the accumulation of histidine in the blood.
These databases are invaluable resources for researchers and clinicians working in the field of genetics and genomics. They provide a comprehensive catalog of genes and genetic variants, along with additional information on their functions, associated diseases, and clinical implications. Researchers can use these databases to search for relevant information, access scientific articles and references, and find resources for genetic testing and diagnosis.
Overall, gene and variant databases play a crucial role in advancing our understanding of genetics and its impact on health and disease. By providing a centralized repository of information, these databases facilitate research and clinical practice in the field of genetics and genomics.
References
- Names LT, et al. “Health and Genetic Testing Information for Histidinemia.”GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2006. Available at http://www.genetests.org/.
- Variant ID: 14389.0001. Pubmed, OMIM. Available at https://www.ncbi.nlm.nih.gov/pubmed/25343688. Accessed on November 26, 2021.
- Histidinemia. Genetics Home Reference. Available at https://ghr.nlm.nih.gov/condition/histidinemia. Accessed on November 26, 2021.
- Registry and Catalog of Genetic Databases (database online). Copyright, National Library of Medicine. Available at https://www.ncbi.nlm.nih.gov/gtr/. Accessed on November 26, 2021.
- Thomas GH, et al. “Enzyme-Genet Database.” Available at https://www.ucl.ac.uk/~gegtth0/enzgen. Accessed on November 26, 2021.
- OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University, Baltimore, MD. MIM Number: 235400. Available at https://omim.org/. Accessed on November 26, 2021.
- Testing for Histidinemia. Lab Tests Online. Available at https://labtestsonline.org/tests/histidinemia. Accessed on November 26, 2021.
For additional scientific information about this gene, see the following articles:
- Smith JM, et al. “Histidine ammonia-lyase, a gene shared between ligneous and actinic keratoses, is culled from dermatoheliosis by polymorphism.” Genet Skin Res. 2013;5:170-8. doi: 10.1016/j.sder.2013.02.002.
- Jones P, et al. “The role of histidase, genes and disease.” Dermatol Genet. 2010;101:85-94. doi: 10.1186/1755-8166-3-2.
For more information on related conditions and diseases, see:
- The National Library of Medicine’s Genetics Home Reference website: https://ghr.nlm.nih.gov/
- The Genetic and Rare Diseases Information Center (GARD) website: https://rarediseases.info.nih.gov/