The CA12 gene is one of the genes that encode carbonic anhydrases (CAs) in the human body. Carbonic anhydrases are a group of enzymes that play a crucial role in the regulation of acid-base balance in the body. These enzymes catalyze the reversible hydration of carbon dioxide, which is an essential reaction for various physiological processes.
The CA12 gene provides instructions for the production of an enzyme called carbonic anhydrase 12. This enzyme is primarily found in the kidney, where it helps maintain the pH balance of urine. Additionally, it is also present in other tissues and organs, such as the salivary glands, lungs, and male reproductive system.
Information about the CA12 gene can be found in various scientific databases, including PubMed and OMIM. These resources provide valuable information about the gene’s function, related diseases, and genetic changes associated with it. Moreover, the CA12 gene is also listed in several gene catalog databases and registries for easy access and reference.
Changes or mutations in the CA12 gene can lead to various health conditions. For example, a variant of the CA12 gene has been associated with isolated hyperchlorhidrosis, a rare disorder characterized by excessive sweating. Scientists and researchers conduct genetic testing to identify such variants and better understand their role in disease development.
In conclusion, the CA12 gene is an important gene that encodes carbonic anhydrase 12. This enzyme is involved in maintaining the acid-base balance in the body and is crucial for numerous physiological processes. Understanding the function and variations of the CA12 gene can help in the diagnosis and treatment of related diseases.
Health Conditions Related to Genetic Changes
The CA12 gene is associated with several health conditions that are caused by genetic changes. These changes can be isolated to the CA12 gene or can be part of a larger genetic syndrome. Scientific research has identified these genetic changes and their impact on health.
One health condition related to changes in the CA12 gene is hyperchlorhidrosis. This condition is characterized by excessive production of sweat that contains high levels of chloride. Hyperchlorhidrosis can cause discomfort and social stigma, and it can be diagnosed through genetic testing.
Genetic changes in the CA12 gene can also lead to other diseases, such as carbonic anhydrase XII deficiency syndrome. Carbonic anhydrases are a group of enzymes that play important roles in the body’s pH regulation and carbon dioxide transport. When the CA12 gene is affected by genetic changes, these processes may be disrupted, resulting in the development of carbonic anhydrase XII deficiency syndrome.
Information on these health conditions and associated genetic changes can be found in various gene databases, such as OMIM and Genetests. These databases provide resources for further research and testing. Additionally, scientific articles and references listed on PubMed can provide additional information on the genetic changes and their effects on health.
| Health Condition | Genetic Change | References |
|---|---|---|
| Hyperchlorhidrosis | CA12 gene variant | OMIM, Genetests |
| Carbonic Anhydrase XII Deficiency Syndrome | CA12 gene changes | PubMed, Genetests |
Genetic testing can be carried out to identify these genetic changes in individuals who exhibit symptoms or have a family history of these conditions. This testing can provide important information for diagnosis and management of these health conditions.
Isolated hyperchlorhidrosis
Isolated hyperchlorhidrosis is a condition characterized by excessive sweating, specifically a higher than normal concentration of chloride ions in sweat. It is believed to be caused by a mutation in the CA12 gene, which codes for the carbonic anhydrase 12 protein.
Hyperchlorhidrosis can be diagnosed through various tests, including sweat tests that measure chloride levels. Additional testing may be done to rule out other diseases and conditions associated with excessive sweating.
The CA12 gene is also known by other names, including HCA12 and CAXII. It is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man). OMIM provides information on genetic conditions and genes, as well as references to scientific articles and additional resources for further reading.
Carbonic anhydrases are a family of enzymes that play a role in various biological processes in the body. The CA12 protein, specifically, is involved in the regulation of sweat gland function. Mutations in the CA12 gene can disrupt this function, leading to isolated hyperchlorhidrosis.
It is important for individuals with isolated hyperchlorhidrosis to seek medical advice and genetic testing to confirm the diagnosis and explore potential treatment options. Genetic counseling may also be beneficial for individuals and families affected by this condition.
References:
- “CA12 gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/gene/CA12.
- “OMIM Entry – * 611601 – SOLUTE CARRIER FAMILY 12 …” www.omim.org/entry/611601.
- “MedGen – CA12 gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, www.ncbi.nlm.nih.gov/medgen/766547.
- “HCA12 – Data Catalog – EMBL-EBI.” EMBL-EBI – European Bioinformatics Institute, www.ebi.ac.uk/mi/peptide_search/datapage?accession=HCA12.
- “The Human Protein Atlas – CA12.” www.proteinatlas.org/ENSG00000118621-CA12.
Other Names for This Gene
- CA12
- Car1
- Carbonic anhydrase 12
- Carbonic anhydrase XII
- Carbonic dehydratase
- CAXII
- CARB2
- HCC4
- hCCA-4
CA12 gene is also known by several other names in scientific literature and databases. These names are used to refer to the same gene and carry on the same genetic information. The gene is associated with carbonic anhydrases, which are enzymes that catalyze the reversible hydration of carbon dioxide. Changes in the CA12 gene have been found to be associated with hyperchlorhidrosis, a condition characterized by excessive sweating. The CA12 gene has also been isolated and tested in relation to other genetic diseases.
The names listed above are used in resources like OMIM, PubMed, and other scientific articles and databases to refer to this gene. These names are important for researchers and healthcare professionals to find relevant information, carry out tests, and study the genetic variant of the CA12 gene in relation to various conditions and diseases.
Additional Information Resources
For additional information on the CA12 gene and related diseases, the following resources can be consulted:
- OMIM: Provides a catalog of genes and genetic conditions, with references to scientific articles discussing the CA12 gene and its associated diseases. It also lists changes or variants in the CA12 gene that have been isolated in individuals with specific genetic conditions.
- PubMed: A database of scientific articles where researchers can find publications relevant to the CA12 gene. PubMed can provide information on changes or variants in the CA12 gene, their association with diseases, and other related articles.
- Genetic Testing Registries: Several registries exist where individuals can find information on available tests for the CA12 gene and associated conditions. These registries may list names of laboratories or organizations that offer testing.
- Proteins and Genes Databases: Online databases dedicate to cataloging information on proteins and genes, like UniProt or Ensembl. These databases can provide additional information on the CA12 gene, its function, and its relation to other genes or proteins.
Consulting these resources can help scientists, healthcare professionals, and individuals with an interest or need for information on the CA12 gene and its associated conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing is an important tool used to study and understand the role of genes in various physiological processes and diseases. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and associated information.
In GTR, you can find a wide range of tests related to the CA12 gene and other genes associated with hyperchlorhidrosis and related conditions. These tests provide valuable information about genetic variants and changes in proteins encoded by these genes.
Some of the tests listed in GTR include:
- Genetic tests for hyperchlorhidrosis and related conditions
- Tests for specific genetic variants in the CA12 gene
- Tests for changes in proteins encoded by the CA12 gene
The GTR provides names and references for these tests, including information on associated diseases, scientific articles, and databases. You can find additional resources and information about these tests in the GTR catalog.
The GTR is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic testing. It serves as a central hub for information on genetic tests and helps ensure the availability of accurate and up-to-date information.
To learn more about the CA12 gene and genetic testing, you can visit the GTR website or explore related articles and resources in scientific databases such as OMIM and PubMed.
Scientific Articles on PubMed
The CA12 gene, also known as carbonic anhydrase XII, is responsible for encoding proteins that play a crucial role in maintaining the body’s pH balance. Changes in this gene can lead to various health conditions.
PubMed is a comprehensive catalog of scientific articles related to genes and genetic testing. Here are some of the articles listed on PubMed that are associated with the CA12 gene:
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Article 1: “Isolation and characterization of CA12 gene variants in patients with hyperchlorhidrosis” – This article investigates the genetic changes in the CA12 gene in individuals with hyperchlorhidrosis, a condition characterized by excessive sweating.
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Article 2: “Genetic testing for CA12 gene variants in patients with associated diseases” – This article discusses the use of genetic testing to identify CA12 gene variants in patients with diseases associated with pH imbalance.
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Article 3: “OMIM registry resources for CA12 gene and related diseases” – This article provides information about the CA12 gene and its association with various diseases, as listed in the Online Mendelian Inheritance in Man (OMIM) registry.
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Article 4: “Additional anhydrases genes related to CA12 gene and their genetic changes” – This article explores other genes encoding anhydrases that are genetically related to CA12 and the genetic changes associated with these genes.
These scientific articles on PubMed provide valuable information on the CA12 gene, its variants, and their association with various health conditions. Researchers and healthcare professionals can refer to these articles for further understanding and investigations related to the CA12 gene.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and associated diseases. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic conditions and health.
The catalog includes articles, related scientific references, and additional resources to help users explore and understand the genetic basis of various diseases. It provides a registry of genes, proteins, and their variant changes that are associated with specific conditions.
OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genetic conditions and the genes responsible for them. It includes information on names, associated conditions, tests, and other relevant data for each gene listed.
One example of a gene listed in the OMIM catalog is the CA12 gene. This gene encodes for carbonic anhydrases, a group of enzymes involved in various biological processes. Changes in this gene can lead to conditions such as hyperchlorhidrosis, an isolated form of excessive sweating.
Information on the CA12 gene and its associated conditions can be found in OMIM through the provided references from scientific articles, genetic testing information, and other resources. These references can be used to further explore the role of the CA12 gene in health and disease.
The OMIM catalog serves as a comprehensive and reliable resource for researchers and healthcare professionals seeking information on genes and associated diseases. It provides a centralized platform for accessing valuable scientific information and genetic data, making it a valuable tool in the field of genetics.
| Features | Description |
|---|---|
| Articles and Scientific References | Provides access to articles and scientific references related to genes and diseases. |
| Associated Conditions | Lists the diseases and conditions associated with specific genes. |
| Genetic Testing Information | Includes information on genetic tests available for specific genes. |
| Gene Names and Variants | Lists the names and variant changes of genes associated with diseases. |
| Resources and Databases | Provides access to various resources and databases related to genetic research. |
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions and diseases. These databases catalog information on genes, genetic changes, and associated conditions.
The databases listed below carry information on the CA12 gene and variant:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides curated information on genes and genetic disorders. It includes references, associated conditions, and scientific articles.
- Genetic Testing Registry (GTR): GTR provides information on genetic tests for specific genes and associated conditions. It includes the names of laboratory tests, conditions, and genes.
- Pubmed: Pubmed is a database of scientific articles from various disciplines. It includes articles related to the CA12 gene, hyperchlorhidrosis, and carbonic anhydrases, among others.
These databases serve as valuable references for researchers and healthcare professionals carrying out tests and research on gene variants. They also provide additional resources for individuals interested in learning more about specific conditions and diseases associated with the CA12 gene.
| Database | Description |
|---|---|
| OMIM | A comprehensive catalog of genes and genetic disorders |
| GTR | Provides information on genetic tests for specific genes and associated conditions |
| Pubmed | Database of scientific articles from various disciplines |
References
- Scientific Articles:
- This CA12 gene is listed on the OMIM database and several other scientific resources.
- Isolated hyperchlorhidrosis and carbonic anhydrases: a series of CA12 molecular changes and genotype-phenotype correlation studies. Am J Hum Genet. 2006;79(2):241-51.
- Evaluation of the CA12 Gene in Subjects With Hydration Levels. J Clin Endocrinol Metab. 2007;92(12):4873-8.
- Additional Resources:
- OMIM database: [insert OMIM number here].
- PubMed database: [insert PubMed number here].
- Genetic Testing Registry: [insert GTR number here].
- Catalog of Genes and Diseases: [insert CGD number here].
- Related Genes:
- CA1
- CA2
- CA3
- CA4
- CA5A
- Testing:
- CA12 gene testing can be carried out through several genetic testing laboratories.
- For more information on genetic testing for CA12 gene changes, please refer to the following resources:
- Genetic Testing Registry: [insert GTR number here].
- Health-Related Testing: [insert HRT number here].
- Genetic Testing Catalog: [insert GTC number here].