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The SERPINA1 gene, also known as the alpha-1 antitrypsin gene, is associated with a variety of diseases. This gene encodes for a protein called alpha-1-antitrypsin, which plays a crucial role in protecting the lungs from damage caused by an enzyme called elastase.

Mutations in the SERPINA1 gene can lead to alpha-1 antitrypsin deficiency, a genetic disorder characterized by reduced levels of the alpha-1 antitrypsin protein. This deficiency increases the risk of developing lung and liver diseases, including chronic obstructive pulmonary disease (COPD) and liver cirrhosis.

There are several known variants of the SERPINA1 gene, with the most common one being the Z variant. This variant causes a change in the structure of the alpha-1 antitrypsin protein, making it less effective in inhibiting elastase activity. Individuals with the Z variant are at a higher risk of developing lung and liver diseases.

Testing for alpha-1 antitrypsin deficiency can be done through genetic testing, which involves analyzing the DNA sequence of the SERPINA1 gene. This information is listed in various scientific databases, including PubMed, OMIM, and the Alpha-1 Registry. Additional resources, such as articles and references related to this gene and its variants, can also be found in these databases.

Understanding the SERPINA1 gene and its associated variants is crucial for the diagnosis and management of alpha-1 antitrypsin deficiency. Further research and scientific advancements in this field can provide valuable insights into the development of effective treatments for diseases linked to the SERPINA1 gene.

Genetic changes in the SERPINA1 gene can lead to various health conditions. The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which plays a crucial role in protecting the body’s tissues from damage caused by an enzyme called elastase. Elastase is released by white blood cells to fight infections, but if it is not properly regulated by alpha-1 antitrypsin, it can damage the lungs and other organs.

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One common genetic change in the SERPINA1 gene is a variant known as the alpha-1 antitrypsin deficiency. This genetic variant results in a decrease in the amount or activity of the alpha-1 antitrypsin protein. As a result, elastase is not properly regulated, leading to lung and liver diseases.

Alpha-1 antitrypsin deficiency can cause various health conditions, including:

  • Chronic obstructive pulmonary disease (COPD): This is a condition characterized by airflow obstruction due to damage to the lungs.
  • Emphysema: This is a lung condition where the air sacs in the lungs are damaged, leading to shortness of breath and difficulty breathing.
  • Liver disease: Alpha-1 antitrypsin deficiency can also lead to liver damage and liver diseases, such as cirrhosis.

There are tests available to diagnose alpha-1 antitrypsin deficiency. These tests can determine the level of alpha-1 antitrypsin in the blood and identify specific genetic changes associated with the condition. Genetic testing can also be used to identify carriers of the genetic variant.

For additional information on health conditions related to genetic changes in the SERPINA1 gene, you can refer to scientific articles, databases, and resources such as PubMed, OMIM, and the SERPINA1 gene registry. These resources provide a catalog of genetic changes, related diseases, and other relevant information.

It is important to consult with healthcare professionals and genetic counselors to understand the implications of genetic changes and the available testing options. This article provides a brief overview of the health conditions related to genetic changes in the SERPINA1 gene, but further research and consultation with experts are recommended for a comprehensive understanding of this topic.

See also  PURA gene

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by mutations in the SERPINA1 gene. This gene encodes the alpha1-antitrypsin (AAT) protein, which inhibits the activity of the enzyme elastase.

AAT is produced mainly in the liver and secreted into the bloodstream. It protects the lungs from damage by neutrophil elastase, an enzyme that breaks down elastin, an important component of lung tissue. Individuals with AATD have reduced levels of functional AAT, leading to a higher risk of developing lung and liver diseases.

AATD is inherited in an autosomal recessive manner, meaning that an individual needs to inherit two defective copies of the SERPINA1 gene to develop the disease. There are many different variants of the gene that can cause AATD, with the most common variant being the Z variant, also known as p.Glu342Lys.

The symptoms of AATD vary greatly among affected individuals. Some people may never develop any symptoms, while others may experience difficulty breathing, wheezing, and frequent respiratory infections. AATD is also associated with liver diseases, such as cirrhosis and liver cancer.

Diagnosis of AATD involves testing the AAT levels in the blood and looking for specific changes in the SERPINA1 gene. This can be done through laboratory tests, such as serum protein electrophoresis, and genetic testing.

The Alpha-1 Antitrypsin Deficiency Registry is a central resource for information on AATD. It provides scientific articles, testing resources, and additional information on the disease. Other databases, such as OMIM and PubMed, also have information on AATD and related diseases.

In conclusion, alpha-1 antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene. It leads to reduced levels of functional AAT, which can result in lung and liver diseases. Testing for AATD involves measuring AAT levels and examining the SERPINA1 gene. The Alpha-1 Antitrypsin Deficiency Registry and other resources provide valuable information on this disease and related topics.

Other Names for This Gene

The SERPINA1 gene is also known by several other names including:

  • Alpha-1 antitrypsin gene
  • Antitrypsin, alpha-1 gene
  • Alpha-1 protease inhibitor gene
  • PI gene
  • A1AT gene
  • SERPINA1 (serpin peptidase inhibitor, clade A, member 1) gene

This gene is associated with various health conditions, primarily related to alpha-1 antitrypsin deficiency. It is also involved in the regulation of protease activity and plays a role in protecting the lungs and liver from damage caused by elastase.

The SERPINA1 gene is listed in various databases and registries, including the OMIM (Online Mendelian Inheritance in Man) database. Additional information and articles about this gene can be found in PubMed.

Alpha-1 antitrypsin is a variant of the SERPINA1 gene, and changes in this gene can lead to genetic conditions such as alpha-1 antitrypsin deficiency.

For more resources on this gene, including gene testing and genetic counseling, you can refer to the catalog of genetic tests and related resources provided by the Genetic Testing Registry.

Additional Information Resources

Here are some additional resources for further information on the SERPINA1 gene:

  • OMIM – The Online Mendelian Inheritance in Man database provides comprehensive information on genes and genetic conditions. Visit their website to find more information on the SERPINA1 gene and its associated variants.
  • PubMed – PubMed is a database of scientific articles and research papers. You can search for articles related to the SERPINA1 gene and alpha-1 antitrypsin deficiency to learn more about the topic.
  • GeneCards – GeneCards is a database that provides information on genes, proteins, and diseases. You can find information on the SERPINA1 gene and its associated conditions in their catalog.
  • Alpha-1 Foundation – The Alpha-1 Foundation is a non-profit organization that provides support and resources for individuals affected by alpha-1 antitrypsin deficiency. Their website offers information on testing, treatment options, and research updates.
  • Alpha-1 International Registry – The Alpha-1 International Registry is a database that collects clinical and genetic information on individuals with alpha-1 antitrypsin deficiency. You can find information on ongoing studies and research initiatives on their website.

In addition to these resources, there are other scientific articles, books, and websites written on the topic of alpha-1 antitrypsin deficiency. Some notable authors in the field include Parfrey and Lomas. You can refer to their works for more in-depth information on the genetics and biochemical changes associated with this condition.

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Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in diagnosing and understanding various diseases and conditions. The Genetic Testing Registry (GTR) is a central database that provides information on genetic tests for different genes and diseases. In relation to the SERPINA1 gene, the GTR lists various tests related to the alpha-1 antitrypsin deficiency.

Alpha-1 antitrypsin deficiency is a genetic disorder caused by changes (variants) in the SERPINA1 gene. This gene encodes the alpha-1 antitrypsin protein, which plays a crucial role in protecting the lungs from damage by an enzyme called elastase. When the activity of the alpha-1 antitrypsin protein is reduced due to gene changes, it can result in various lung and liver conditions.

The GTR lists multiple tests for alpha-1 antitrypsin deficiency, including DNA sequencing, gene analysis, and protein analysis. These tests help identify specific changes in the SERPINA1 gene and evaluate the activity and levels of the alpha-1 antitrypsin protein.

Some of the tests listed in the GTR include:

  • DNA sequencing of the SERPINA1 gene
  • Gene analysis to detect variants associated with alpha-1 antitrypsin deficiency
  • Protein analysis to assess the activity and levels of alpha-1 antitrypsin

References to scientific articles, databases, and resources related to alpha-1 antitrypsin deficiency testing are also provided in the GTR. These references offer additional information on the known variants of the SERPINA1 gene, the disease conditions associated with alpha-1 antitrypsin deficiency, and the impact of gene changes on the activity and function of the alpha-1 antitrypsin protein.

In conclusion, the Genetic Testing Registry is a valuable resource for information on genetic testing for the SERPINA1 gene and alpha-1 antitrypsin deficiency. It provides a comprehensive catalog of tests, references, and resources to aid in the diagnosis and management of this genetic condition.

Scientific Articles on PubMed

Here is a list of scientific articles related to the genetic variant of the SERPINA1 gene, also known as alpha-1 antitrypsin deficiency:

  • Alpha-1 antitrypsin deficiency: genetic variant database and registry

    This article provides information on the genetic variant database and registry for alpha-1 antitrypsin deficiency. It lists the genetic changes associated with this condition and provides references to additional resources for further reading.

    References: Lomas DA, Parfrey H, Gooptu B. Alpha-1 Antitrypsin Deficiency. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2021. OMIM: 107400.

  • Alpha-1 antitrypsin deficiency: molecular and clinical aspects

    This article discusses the molecular and clinical aspects of alpha-1 antitrypsin deficiency. It describes the genetic changes associated with the disease and their impact on the activity of alpha-1 antitrypsin. It also provides information on diagnostic tests and other resources for genetic testing.

    References: Fregonese L, Stolk J. Hereditary Alpha-1 Antitrypsin Deficiency and Its Clinical Consequences. Orphanet J Rare Dis. 2008;3:16.

  • Genetic testing for alpha-1 antitrypsin deficiency

    This article discusses the genetic testing options available for alpha-1 antitrypsin deficiency. It describes the genes involved in the disease and the different testing methods that can be used to identify genetic variants. It also provides information on the interpretation of test results and their implications for patients.

    References: Stoller JK, Aboussouan LS. Alpha-1 antitrypsin deficiency. Lancet. 2005;365(9478):2225-36.

These articles provide valuable scientific information on the genetic variant of the SERPINA1 gene and its association with alpha-1 antitrypsin deficiency. They can serve as important resources for researchers, healthcare professionals, and individuals interested in learning more about this condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive list of genes and diseases. This catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases.

OMIM contains information on over 25,000 genes and more than 15,000 diseases. It provides detailed information on the clinical features, inheritance patterns, and molecular mechanisms underlying these conditions.

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For the SERPINA1 gene, OMIM lists the variant that replaces alpha-1 antitrypsin protein with a variant that has reduced activity. This genetic variant causes alpha1-antitrypsin deficiency, which is associated with various health conditions, including liver disease and lung diseases.

OMIM classifies the SERPINA1 gene within the clade of other related genes, such as the antiproteinase genes. There are additional conditions listed in the catalog that are associated with genetic changes in this gene.

The OMIM catalog serves as a central hub for genetic information. It provides references to scientific articles, databases, and resources for further reading and research.

OMIM version and the date of the article written are also mentioned in the catalog, ensuring that the information is current and up-to-date.

In addition to the OMIM catalog, there are other resources available for genetic testing and information on the alpha-1 antitrypsin deficiency and related conditions. PubMed, for example, provides a vast collection of scientific articles and research papers on this subject.

Overall, the OMIM catalog is a comprehensive and reliable source of information on genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of various health conditions.

Gene and Variant Databases

The SERPINA1 gene, also known as the alpha-1 antitrypsin gene, is listed in various gene and variant databases. These databases provide valuable information about the gene and its related variants.

One of the most reliable and comprehensive gene databases is the GenBank. It is a clade database that provides a central registry of genetic information for a wide range of genes. The GenBank database contains references to scientific articles, genetic sequences, and other resources related to the SERPINA1 gene.

Another important database for the SERPINA1 gene is the Online Mendelian Inheritance in Man (OMIM). OMIM is a catalog of genetic conditions that provides detailed information on genes and their associated disorders. The database includes information on alpha-1 antitrypsin deficiency, a condition caused by mutations in the SERPINA1 gene.

For specific genetic variant information, the dbSNP database is a useful resource. This database catalogs single nucleotide polymorphisms (SNPs) and other genetic variations. It provides information on the frequency of different genetic variants in the population and their potential association with diseases or traits.

In addition to these databases, there are several other resources available for accessing information about the SERPINA1 gene and its variants. These include the National Center for Biotechnology Information (NCBI) website, which contains a wealth of genetic information, and PubMed, which provides access to scientific articles related to the gene.

Some laboratories and testing facilities also offer genetic testing for alpha-1 antitrypsin deficiency. These tests can detect changes in the SERPINA1 gene and help diagnose the condition. The results of these tests are often provided in a genetic variant report, which includes information on the specific genetic changes identified.

It is important to note that the information provided in these databases and testing reports should be considered as a reference and should not replace consultation with a qualified healthcare professional. Additional research and consultation with a genetic counselor may be necessary to fully understand the implications of genetic variants in the SERPINA1 gene.

References

  • Alpha-1 Antitrypsin Deficiency Registry: Information for Health Professionals.
  • Alpha-1 Foundation: Resources for testing.
  • OMIM: Catalog of genetic diseases and associated genes.
  • PubMed: Scientific articles on SERPINA1 gene and related proteins.
  • Antitrypsin Deficiency,” Elastase changes alpha1-antitrypsin, a physiological inhibitor of elastase activity. In: Encyclopedia of Molecular Mechanisms of Disease. Springer; 2009.
  • Lomas DA, Parfrey H Gene- and cell-based therapies for alpha-1 antitrypsin deficiency. Expert Opinion on Biological Therapy. 2013;13(6):819-29.
  • Alpha-1 Antitrypsin Deficiency,” Article from Genetic Home Reference. U.S. National Library of Medicine.
  • Alpha-1 Antitrypsin Deficiency Articles, version 3.73. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2014. Available at http://www.ncbi.nlm.nih.gov/books/NBK1519/.
  • Alpha-1 Clade of Proteins: Additional genes and related proteins.
  • SERPINA1 gene: Variant names and related conditions on the Mutations page.

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