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ALAS2 gene

The ALAS2 gene is an erythroid-specific gene that encodes a crucial enzyme in heme biosynthesis, specifically, the first enzyme in the pathway, aminolevulinate synthase 2. This enzyme is responsible for catalyzing the production of 5-aminolevulinic acid (ALA), which is a precursor for heme.

Mutations in the ALAS2 gene can lead to a variety of disorders and medical conditions. One of the most well-known diseases associated with ALAS2 mutations is X-linked sideroblastic anemia (XLSA), a condition characterized by abnormal iron accumulation in the mitochondria of red blood cell precursors. Other names for this condition include X-linked sideroblastic anemia and ataxia (XLSA/A), X-linked dominant protoporphyria (XLDPP), and pyridoxine-responsive sideroblastic anemia.

Testing for ALAS2 gene mutations can be done using various methods, including genetic testing and biochemical testing of enzymes. These tests can be useful in diagnosing and managing patients with sideroblastic anemia and other related diseases.

Additional information about the ALAS2 gene, including its role in heme biosynthesis, its regulation, and its involvement in other diseases and conditions, can be found in scientific articles, databases, and registries such as PubMed, OMIM, and the Genetic Testing Registry.

Genetic changes in the ALAS2 gene can lead to several health conditions. ALAS2 is responsible for regulating the production of a protein called erythroid-specific 5-aminolevulinic acid synthase 2 (ALAS2). This protein plays a crucial role in the production of heme, a compound necessary for the formation of hemoglobin in red blood cells.

Changes in the ALAS2 gene can result in various conditions, including:

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  1. X-linked sideroblastic anemia: This condition is characterized by abnormal iron accumulation in the body’s erythroid cells, leading to a decrease in red blood cell production and subsequent anemia.
  2. X-linked protoporphyria: A rare form of porphyria, this condition causes a buildup of porphyrin compounds in the skin, resulting in photosensitivity and other related symptoms.
  3. Other erythroid-specific porphyrias: Genetic changes in the ALAS2 gene can also cause other forms of porphyria that primarily affect the erythroid cells.

Diagnosing these health conditions often involves genetic testing to identify changes in the ALAS2 gene. Medical professionals may also perform additional tests to evaluate the function of the gene and its associated enzymes.

For further information on these health conditions, scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry can provide valuable references and catalogs of genes related to these diseases.

Porphyria

Porphyria is a group of rare genetic disorders that affect the production of heme, a vital molecule involved in the transport of oxygen to organs and the regulation of iron in the body. These disorders are characterized by a deficiency of certain enzymes involved in the heme synthesis pathway. One of the genes associated with porphyria is the ALAS2 gene.

The ALAS2 gene is an erythroid-specific gene that codes for the enzyme delta-aminolevulinate synthase 2. This enzyme plays a key role in the production of heme in red blood cells. Mutations or variants in the ALAS2 gene can lead to a decrease in enzyme activity, resulting in a buildup of porphyrin precursors, such as delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), which can cause a variety of symptoms.

Porphyria can manifest in different forms, including acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and erythropoietic protoporphyria. Each form is characterized by specific symptoms and enzyme deficiencies. The symptoms can range from mild to severe and can affect multiple organ systems, including the skin, liver, and nervous system.

Some common symptoms of porphyria include abdominal pain, neurological symptoms, skin changes (such as blistering, photosensitivity, and hyperpigmentation), anemia, and urinary problems. The severity and frequency of symptoms can vary greatly between individuals and can be triggered by factors such as certain medications, hormonal changes, and sun exposure.

Diagnosis of porphyria involves a combination of clinical evaluation, laboratory testing, and genetic testing. The measurement of specific porphyrin precursors, such as ALA and PBG, in urine, along with the detection of mutations or variants in the ALAS2 gene, can help confirm the diagnosis. Additional tests may be conducted to assess the activity levels of other enzymes in the heme synthesis pathway.

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Treatment for porphyria aims to alleviate symptoms and prevent acute attacks. This may involve avoiding triggers, such as certain medications and exposure to sunlight, as well as the use of medications to control symptoms and manage complications. In some cases, individuals may require regular heme infusions to maintain adequate heme levels.

For more information about porphyria and related conditions, the Online Mendelian Inheritance in Man (OMIM) database and other scientific resources provide additional references and information. The American Porphyria Foundation also offers resources and support for individuals and families affected by porphyria.

X-linked sideroblastic anemia

X-linked sideroblastic anemia is a condition characterized by abnormal production of red blood cells. This condition is caused by mutations in the ALAS2 gene, which is located on the X chromosome. The ALAS2 gene provides instructions for making an enzyme called erythroid-specific 5-aminolevulinate synthase 2. This enzyme catalyzes the first step in the production of heme, which is an essential component of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the body’s organs and tissues and transports carbon dioxide from the body’s organs and tissues back to the lungs.

In individuals with X-linked sideroblastic anemia, mutations in the ALAS2 gene lead to the production of an altered or nonfunctional enzyme. This enzyme is important for the regulation of heme production in red blood cells of the bone marrow. As a result, heme production is impaired and the body’s ability to produce functional hemoglobin is disrupted. This leads to problems with the formation and functioning of red blood cells, resulting in a buildup of iron in the mitochondria of the red blood cells.

Sideroblastic anemia got its name from the characteristic iron deposits (sideroblasts) that can be seen in the bone marrow under a microscope. These iron deposits can interrupt normal red blood cell development and cause various symptoms, including fatigue, pale skin, shortness of breath, and an enlarged liver or spleen.

Diagnosis of X-linked sideroblastic anemia involves blood tests to measure the levels of hemoglobin and iron in the blood. Genetic testing can also be performed to identify mutations in the ALAS2 gene. Additional tests may be necessary to rule out other causes of anemia and determine the severity of the condition.

Treatment for X-linked sideroblastic anemia focuses on managing the symptoms and supporting the production of functional red blood cells. This may involve regular blood transfusions, iron chelation therapy to remove excess iron from the body, and erythropoietin therapy to stimulate the production of red blood cells. In some cases, a bone marrow transplant may be necessary.

The X-linked sideroblastic anemia variant is just one of the many conditions related to the ALAS2 gene. Other conditions associated with mutations in this gene include X-linked protoporphyria and X-linked dominant protoporphyria. Information on these conditions can be found in scientific articles, databases, and health resources such as PubMed, OMIM, and genetic testing registries.

References:

  1. Zhou, W., et al. (2010). ALAS2 mutation in a large family with X-linked sideroblastic anemia: A case series. World Journal of Pediatrics, 6(4), 370-374.
  2. Mayo Clinic. (n.d.). X-Linked Sideroblastic Anemia. Retrieved from https://www.mayoclinic.org/diseases-conditions/x-linked-sideroblastic-anemia/symptoms-causes/syc-20352261
  3. NCBI. (n.d.). ALAS2 5′-untranslated region (UTR) variant increases steady-state levels of erythroid-specific 5-aminolevulinic acid synthase (ALAS2) RNA and protoporphyrin IX production. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC174091/

Other Names for This Gene:

  • ALAS2
  • X-linked sideroblastic anemia 2
  • Sideroblastic anemia, X-linked, pyridoxine-refractory
  • Sideroblastic anemia pyridoxine-refractory autosomal-recessive
  • Aminolevulinate, delta-, synthase 2
  • 5-Aminolevulinate synthase 2, erythroid
  • 5-ALA synthase 2, erythroid-specific
  • ALAS erythroid-specific gene
  • ALA synthase 2, erythroid-specific

The ALAS2 gene, also known by the names listed above, codes for a protein called aminolevulinate, delta-, synthase 2. This protein is responsible for an important step in the production of heme, which is a component of hemoglobin. Mutations in this gene can lead to various forms of sideroblastic anemia, a condition characterized by defective production of red blood cells in the body’s bone marrow.

For additional information about ALAS2, including genetic changes, related genes, and available tests, please visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man catalog provides a comprehensive database of genetic conditions and related genes. ALAS2 can be found at the following link: OMIM ALAS2
  • PubMed: PubMed is a database of scientific articles and references. Searching for ALAS2 can provide access to research on this gene and its role in various conditions. PubMed ALAS2
  • GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed information about genetic diseases, including ALAS2-related conditions. It can be accessed here: GeneReviews ALAS2
  • NCBI Gene: The National Center for Biotechnology Information’s Gene database includes information on the ALAS2 gene, including genetic testing resources and related articles. NCBI Gene ALAS2
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Testing for ALAS2 gene variants can help diagnose and confirm conditions such as X-linked sideroblastic anemia 2. These tests may involve analyzing DNA or specific enzymes related to heme synthesis. Results from these tests can assist in the management and regulation of treatment options for affected individuals.

Additional Information Resources

Here are some additional resources that may provide more information on the ALAS2 gene:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the ALAS2 gene, including its aliases, associated diseases, and genetic variants. OMIM is a useful resource for researchers, clinicians, and individuals interested in learning more about the ALAS2 gene.
  • PubMed: PubMed is a database of scientific articles that provides information on a wide range of topics, including genetics and molecular biology. Searching PubMed using keywords such as “ALAS2 gene,” “erythroid-specific porphyria,” or “X-linked sideroblastic anemia” can yield articles and studies related to the gene and its associated conditions.
  • Genetic Testing Registry (GTR): The GTR is a centralized online resource that provides information on genetic tests and testing laboratories. It includes information on ALAS2 gene tests, such as the specific genetic variants that can be detected and the laboratories that offer testing. The GTR can be a valuable resource for individuals considering genetic testing for ALAS2 gene-related conditions.

In addition to these databases, it is also worth considering consulting published articles, books, and expert opinions for further information on the ALAS2 gene and its associated diseases. The ALAS2 gene plays a crucial role in the regulation of heme synthesis, hemoglobin production, and the transport of oxygen in the body. Changes or mutations in this gene can lead to various conditions, such as X-linked sideroblastic anemia and erythroid-specific porphyria.

Tests Listed in the Genetic Testing Registry

The ALAS2 gene is responsible for encoding the enzyme delta-aminolevulinate synthase 2. This enzyme is involved in the regulation of heme biosynthesis, which is essential for the production of hemoglobin. Mutations in this gene can cause X-linked sideroblastic anemia and several other conditions related to heme synthesis.

The Genetic Testing Registry (GTR) lists various tests related to the ALAS2 gene. These tests aim to identify changes or variants in the gene that may lead to different diseases or health conditions. Here are some of the tests listed:

  • ALAS2 Gene Sequencing: This test analyzes the DNA sequence of the ALAS2 gene to identify any changes or variants that may be linked to diseases or conditions.

  • ALAS2 Gene Deletion/Duplication Analysis: This test looks for large-scale deletions or duplications within the ALAS2 gene that may disrupt its function.

  • ALAS2 Gene Expression Analysis: This test examines the level of ALAS2 gene expression, which can provide insights into its activity and regulation.

In addition to the specific ALAS2 gene tests, the GTR also provides information on related genes, compounds, and additional resources. These resources include scientific articles, databases such as PubMed and OMIM, and other genetic testing catalogs.

It is important to note that the information in the GTR is constantly evolving, as new tests, genes, and conditions are discovered. Therefore, it is recommended to consult the GTR regularly for the most up-to-date information.

Scientific Articles on PubMed

PubMed is a scientific database that provides access to a vast collection of research articles. Many of these articles are related to the ALAS2 gene. ALAS2 stands for 5-Aminolevulinate Synthase 2, which is an enzyme that plays a crucial role in the regulation of heme biosynthesis. Mutations in the ALAS2 gene can lead to various conditions, including X-linked sideroblastic anemia.

Testing compounds for genetic changes in the ALAS2 gene is essential for the diagnosis and management of X-linked sideroblastic anemia. Scientific articles on PubMed provide information about different testing methods and their efficacy in identifying ALAS2 gene mutations.

One of the valuable resources available on PubMed is the Genetic Testing Registry (GTR). GTR is a centralized database that provides information about genetic tests for various conditions, including those related to ALAS2 gene mutations.

PubMed also contains articles discussing the role of ALAS2 gene mutations in other health conditions. For example, some articles explore the association between ALAS2 gene mutations and porphyria, a group of rare genetic disorders that affect the production of heme.

In addition to ALAS2, PubMed also hosts articles about other genes involved in the regulation of heme biosynthesis. These genes include ALAD, FECH, HMBS, PBGD, PPOX, UROS, and others. These genes code for enzymes that are necessary for the production and transportation of heme and hemoglobin.

Articles on PubMed provide references to other scientific resources such as OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about genetic conditions associated with ALAS2 gene mutations.

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Furthermore, PubMed articles discuss the impact of ALAS2 gene mutations on specific organs and body systems. For example, some articles focus on skin changes observed in individuals with X-linked sideroblastic anemia. These articles provide insights into the molecular mechanisms underlying these changes.

Overall, PubMed offers a wide range of scientific articles that delve into the various aspects of the ALAS2 gene. Scientists and researchers can rely on these articles to gain a comprehensive understanding of the genetic and biochemical factors involved in ALAS2-related conditions.

Catalog of Genes and Diseases from OMIM

The ALAS2 gene is an erythroid-specific gene that encodes a key enzyme in the production of heme, a component of hemoglobin. Mutations in this gene can lead to a variety of conditions, including X-linked sideroblastic anemia, a condition characterized by abnormal changes in the regulation of hemoglobin production.

This article provides a catalog of genes and diseases related to ALAS2 and other compounds involved in heme production and regulation. The catalog includes information on genetic testing, related diseases, and available resources for further information.

Genes and Disorders

  • ALAS2 gene: The ALAS2 gene is responsible for the production of the ALAS2 protein, an enzyme that catalyzes the first step of heme synthesis.
  • X-linked sideroblastic anemia: This condition is caused by mutations in the ALAS2 gene, leading to impaired heme production and impaired transportation of iron in red blood cells.
  • Other genes: There are several other genes involved in heme production and regulation, including those encoding enzymes and proteins required for heme synthesis and iron transport.

Tests and Resources

Genetic testing for mutations in the ALAS2 gene and other related genes can be performed to diagnose X-linked sideroblastic anemia and other related disorders. These tests can help identify the underlying genetic cause of erythroid abnormalities.

Additional information on genes, diseases, and related scientific articles can be found in the Online Mendelian Inheritance in Man (OMIM) database. The OMIM database provides comprehensive information on genetic disorders and associated genes, as well as links to references in scientific literature.

References to scientific articles related to ALAS2 and other genes involved in heme production and regulation can be found in PubMed, a searchable database of scientific articles.

Conclusion

The ALAS2 gene and other related genes play a central role in the production and regulation of heme, a critical component of hemoglobin in red blood cells. Mutations in these genes can lead to a variety of disorders, including X-linked sideroblastic anemia. Genetic testing and resources such as the OMIM database and PubMed can provide valuable information for diagnosis and further research in this field.

Gene and Variant Databases

Resources for genetic testing and information on genes and variants are essential for scientific research and health-related articles. The ALAS2 gene is a central gene in the body’s regulation of hemoglobin and is responsible for the production of erythroid-specific enzymes. Mutations in this gene can lead to x-linked sideroblastic anemia and other related conditions.

In order to access information on the ALAS2 gene and its variants, there are several databases available:

  1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ALAS2 gene, its associated diseases, and variant names.
  2. GeneTests: This database offers information on genetic tests available for ALAS2 and other genes. It provides a list of laboratories that offer testing for ALAS2 variants and other related genes.
  3. PubMed: PubMed is a database of scientific articles. It includes research articles related to the ALAS2 gene, its variants, and their role in various diseases and conditions.
  4. Registry of Genes and Genetic Testing Laboratories: This resource provides a list of genes and laboratories offering genetic testing. It includes information on ALAS2 and other genes related to porphyria and sideroblastic anemia.

These databases contain valuable information on the ALAS2 gene, its variants, and their association with different diseases and conditions. They serve as essential resources for researchers, healthcare professionals, and individuals seeking information on genetic testing and related topics.

References

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