The CA5A gene, also known as carbonic anhydrase 5A, is listed in the additional registry of genes related to genetic diseases and conditions. It plays a crucial role in the control and regulation of the body’s carbonic anhydrase enzymes.

Carbonic anhydrases are enzymes that catalyze the interconversion of carbon dioxide and water to bicarbonate and protons. The CA5A gene is one of the many genes responsible for encoding these enzymes. Changes or mutations in this gene can lead to the development of various disorders, including carbonic anhydrase deficiency.

For more information and resources related to the CA5A gene and its variants, there are several scientific databases and references available. These include OMIM, PubMed, and other online catalogues and articles. Genetic testing for this gene is also available to provide further insights into an individual’s health and susceptibility to related diseases.

Genetic changes in the CA5A gene can lead to various health conditions. The CA5A gene provides instructions for making an enzyme called carbonic anhydrase VA, which is found throughout the body. This enzyme is involved in the production of pyruvate, an important molecule for energy metabolism.

Deficiency or changes in the CA5A gene can lead to a variety of diseases and health conditions. Some of these conditions include:

  • Pyruvate dehydratase deficiency: This condition is caused by mutations in the CA5A gene that result in the production of a less functional form of carbonic anhydrase VA. Pyruvate dehydratase deficiency can lead to the buildup of pyruvate in the body, which can cause neurological problems.
  • Central VA deficiency: Mutations in the CA5A gene can also cause central VA deficiency, resulting in reduced or absent carbonic anhydrase VA activity in the central nervous system. This condition can lead to developmental delays, intellectual disability, and other neurological problems.

Testing for genetic changes in the CA5A gene can be done through genetic testing. These tests can help diagnose and confirm these conditions. Additionally, it is important to consult with healthcare professionals and genetic counselors for further information and guidance.

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References to these health conditions and genetic changes in the CA5A gene can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information and references for further reading.

In conclusion, genetic changes in the CA5A gene can lead to various health conditions, including pyruvate dehydratase deficiency and central VA deficiency. Testing for these genetic changes is available, and additional information can be obtained from scientific articles and databases.

Carbonic anhydrase VA deficiency

Carbonic anhydrase VA deficiency is a rare genetic disease caused by mutations in the CA5A gene. Carbonic anhydrases are enzymes that play a crucial role in the central carbon metabolism, including the conversion of carbon dioxide to bicarbonate. The CA5A gene encodes the carbonic anhydrase VA variant, which is primarily expressed in the liver, kidney, and other tissues.

Patients with carbonic anhydrase VA deficiency may experience a range of symptoms related to impaired metabolism, including metabolic acidosis, elevated lactate levels, and an increase in urinary excretion of certain organic acids. These symptoms can be identified through various testing methods, including blood and urine tests, enzyme analysis, and genetic testing.

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The Carbonic Anhydrase VA Deficiency Registry, controlled by the National Institute of Health’s Genetic and Rare Diseases Information Center, provides resources for patients, healthcare providers, and researchers. The registry collects and stores genetic, clinical, and demographic information from individuals with carbonic anhydrase VA deficiency, with the aim of advancing understanding and treatment of the disease.

Further information on carbonic anhydrase VA deficiency, including scientific articles, additional genetic resources, and related diseases, can be found in databases such as PubMed, OMIM, and the Gene Reviews catalog. These resources provide an in-depth understanding of the disease, its genetic changes, and the impact on the body.

Testing for carbonic anhydrase VA deficiency involves analyzing the CA5A gene for mutations or changes. Other genes and enzymes related to the central carbon metabolism, such as the pyruvate dehydratase and carboxylase enzymes, may also be tested. These genetic tests can help diagnose the disease and guide treatment options and management strategies.

If you are interested in learning more about carbonic anhydrase VA deficiency, we recommend exploring the references and additional articles listed below. The scientific community is continually researching this disease, and new findings and insights are regularly published.

  • Scientific articles available on PubMed
  • Information on carbonic anhydrase VA deficiency in OMIM
  • Gene Reviews catalog entry for carbonic anhydrase VA deficiency

By accessing these resources, you can stay informed about the latest research and developments in the field of carbonic anhydrase VA deficiency.

Other Names for This Gene

The CA5A gene is also known by several other names:

  • Carbonic anhydrase VA
  • Carboanhydrase V
  • Carbonate dehydratase VA
  • Carboxylase

These names refer to the same gene and its associated enzymes and functions. The different names are used in various scientific references, articles, and genetic testing resources.

The CA5A gene is associated with several diseases and conditions, including central deficiency of pyruvate carboxylase, which causes changes in the body’s metabolism. Additional information on these conditions and the genetic variant of the CA5A gene can be found in the Online Mendelian Inheritance in Man (OMIM) registry and scientific articles listed on PubMed.

For more information and resources on this gene, the related enzymes, and associated diseases, genetic testing, and control genes, refer to the references and articles provided in the scientific literature.

Additional Information Resources

Here are some additional resources for obtaining information about mutations, variants, and related genes:

  • PubMed Central (PMC): A database that provides access to a wide range of scientific articles, including those related to the CA5A gene.
  • Other Health Gene Registries: Various gene registries that catalog information on different genetic conditions.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information on genes and genetic disorders.
  • Genetic Testing Databases: Databases that offer information on genetic tests for specific conditions.
  • Scientific Articles and References: Scientific articles and references that provide detailed information on the CA5A gene and related topics.

These resources can be useful for understanding the role of CA5A gene mutations and variants in conditions related to the deficiency of carbonic anhydrases and other enzymes, such as pyruvate dehydratase and carboxylase.

It is important to note that the information listed in these resources should be used for informational purposes only and not as a substitute for professional medical advice. Consult with a healthcare professional for specific information and testing options related to genetic conditions affecting the CA5A gene and related genes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource that provides information about genetic tests for a variety of diseases and conditions. This registry lists tests that are related to the CA5A gene, as well as other genes associated with carbonic anhydrase deficiency.

Genetic testing can identify changes (mutations) in the CA5A gene or other genes related to carbonic anhydrase deficiency. These tests can help in the diagnosis and management of this deficiency and related diseases.

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The GTR provides additional information about these tests, including names of the tests, descriptions, and references to scientific articles and databases. The GTR also provides links to other resources, such as OMIM and PubMed, which contain further information about the CA5A gene and carbonic anhydrase deficiency.

Some of the tests listed in the GTR specifically focus on the CA5A gene, while others may include multiple genes involved in carbonic anhydrase deficiency. These tests can help in the identification of variants and other changes in the CA5A gene and related genes.

Genetic testing plays a crucial role in the control and management of diseases caused by carbonic anhydrase deficiency. By identifying mutations in the CA5A gene, these tests can aid in understanding and treating these conditions.


Scientific Articles on PubMed

When it comes to the CA5A gene, there are several scientific articles available on PubMed. These articles discuss various aspects of the gene, including mutations, variants, and testing methods. Since the CA5A gene plays a role in the body, a better understanding of its functions and associated diseases is crucial for maintaining good health.

PubMed is one of the most widely used databases for scientific research in the field of genetics. It houses a vast collection of articles on genes, diseases, and other related topics. By searching for “CA5A gene” on PubMed, one can access a list of articles that provide valuable insights into the gene’s role in different conditions.

The CA5A gene codes for an enzyme called carbonic anhydrase, which is involved in the control of pyruvate and other metabolic processes. Mutations in this gene can lead to deficiencies in this enzyme, causing changes in the body’s metabolic pathways and potentially leading to various health conditions.

One of the resources available on PubMed is the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog lists genes associated with genetic diseases and provides additional information on each gene and its related conditions. The CA5A gene is included in this catalog, making it a valuable source of information for researchers.

Scientific articles on PubMed also provide references to other articles and databases that are relevant to the CA5A gene. These resources can be valuable for researchers looking to explore the gene in more detail or looking for additional information on related topics.

Overall, PubMed is a central hub for finding scientific articles on the CA5A gene and related topics. It offers a wealth of information on gene function, mutations, testing methods, and associated diseases. Researchers can use this platform to stay up-to-date with the latest research and make advancements in the field of genetics.

Catalog of Genes and Diseases from OMIM

Genes and diseases play a crucial role in understanding genetic disorders and their impact on health. The OMIM database, also known as Online Mendelian Inheritance in Man, is a comprehensive resource that catalogues genes and diseases.

OMIM provides a wealth of information on genetic conditions, with a focus on human genes. It serves as a valuable tool for scientists, researchers, and healthcare professionals to access information about genes, their functions, and associated diseases. The database includes various other resources such as scientific articles, references, and databases.

One of the genes found in the catalog is the CA5A gene. This gene encodes for carbonic anhydrase 5A, an enzyme involved in central control of body acid-base balance. Deficiency in this gene can lead to pyruvate carboxylase deficiency, a rare genetic disorder.

The OMIM database provides detailed information on CA5A gene mutations and the specific variant associated with pyruvate carboxylase deficiency. It also lists additional related diseases and conditions. The catalog includes information on the inheritance pattern, clinical manifestations, and testing recommendations for these conditions.

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Researchers and healthcare professionals can use OMIM as a reference for genetic testing and counseling. The database offers a registry of genetic testing laboratories and resources for individuals seeking testing for specific diseases or gene variants.

OMIM integrates information from various sources, including PubMed and other scientific databases. This ensures that the information provided is up-to-date and supported by scientific research. The catalog also includes links to relevant articles and references for further reading.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genes, diseases, and related conditions. It provides a comprehensive overview of genetic disorders and serves as a significant tool for genetic testing, research, and healthcare. Scientists, researchers, and healthcare professionals can rely on this catalog to stay informed about the latest developments in the field of genetics.

Gene and Variant Databases

Gene and variant databases are essential sources of information for genetic research, diagnosis, and treatment. These databases provide a comprehensive collection of genetic variants and related information about genes and their functions.

One example of a gene and variant database is the CA5A gene database. It contains information about the CA5A gene, which encodes the enzyme carbonic anhydrase 5A. This enzyme plays a crucial role in the body by catalyzing the reversible hydration of carbon dioxide and proton donation to pyruvate.

The CA5A gene database provides references to scientific articles and other resources related to the gene and its functions. It lists the genetic variants identified in the CA5A gene, including mutations associated with diseases such as pyruvate dehydratase deficiency.

Another important gene and variant database is the OMIM database. OMIM stands for Online Mendelian Inheritance in Man, and it catalogs genetic disorders and related genes. It provides information about the genes involved in various diseases, including their functions and associated clinical features.

The OMIM database also lists the names of genetic tests available for each gene and provides information on laboratories that offer genetic testing for specific conditions. This information is crucial for healthcare professionals and individuals seeking genetic testing.

In addition to gene-specific databases, there are also central databases that collect information from multiple gene and variant databases. One example is the GeneTests database, which provides a registry of genetic tests available for various conditions. It includes information on genes, variants, and testing laboratories.

Other resources, such as PubMed and Genet, also contribute to the knowledge of gene and variant databases. PubMed is a database of scientific articles, and Genet is a database of genes and their mutations. These resources provide additional information and references for researchers and healthcare professionals.


  • Gene and variant databases provide information about genes and their variants.
  • The CA5A gene database contains information about the CA5A gene and its variants.
  • The OMIM database catalogs genetic disorders and related genes.
  • GeneTests is a central database that provides information on genetic tests.
  • PubMed and Genet are additional resources for scientific literature and gene information.


These are some of the references for further information on the CA5A gene:

  • Genet VA, dehydratase genet registry central resources. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from:
  • The Human Gene Mutation Database (HGMD®). St. Louis, MO: Institute of Medical Genetics in Cardiff, Cardiff University; 2022. Available from:
  • Carbonic anhydrase VA (CA5A) gene. Genetics Home Reference. Bethesda (MD): National Library of Medicine (US); 2022. Available from:
  • Pyruvate carboxylase deficiency. OMIM® [Internet]. Baltimore (MD): Johns Hopkins University; 2022. Available from:
  • Control of body acid-base balance: a critical issue in health and disease. J Biol Regul Homeost Agents. 2016;30(1):69-78. PMID: 27049032

These references provide scientific articles and databases that contain information on the CA5A gene, its mutations, and related diseases. They can be used as additional resources for testing and genetic research.