The CPOX gene, also known as coproporphyrinogen oxidase, is responsible for the production of the coproporphyrinogen oxidase enzyme. This enzyme plays a crucial role in the heme synthesis pathway, which is essential for the production of hemoglobin and other important compounds in the body.
Changes or defects in the CPOX gene can lead to various inherited conditions, including coproporphyria and hepatic porphyria. These conditions are characterized by an accumulation of porphyrin precursors and can result in a range of symptoms and health issues.
Scientists and researchers have studied the CPOX gene extensively and have compiled a wealth of information on its structure, function, and role in genetic diseases. This information can be found in scientific databases, such as OMIM, PubMed, and other genetic resources.
Genetic testing for variants in the CPOX gene can be used to diagnose these inherited conditions or identify individuals at risk. In addition, the CPOX gene is listed in genetic testing catalogs and registries, providing healthcare providers with valuable information for making informed decisions regarding diagnosis, treatment, and management of these conditions.
For more information on the CPOX gene, including articles, references, and additional resources, interested individuals can refer to scientific journals, genetic databases, and other published materials that provide comprehensive information on this gene and its role in health and disease.
Health Conditions Related to Genetic Changes
The CPOX gene is responsible for the production of an enzyme called coproporphyrinogen oxidase, which plays a crucial role in the production of heme, a compound involved in oxygen transport throughout the body. Genetic changes in the CPOX gene can lead to various health conditions related to the impairment of heme production.
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One of the main health conditions associated with genetic changes in the CPOX gene is hereditary coproporphyria (HCP). This is a rare inherited disorder characterized by a deficiency of the coproporphyrinogen oxidase enzyme, resulting in the accumulation of coproporphyrin in the body. HCP can cause symptoms such as abdominal pain, photosensitivity, neurological symptoms, and psychiatric manifestations.
Other types of porphyria, such as acute intermittent porphyria and variegate porphyria, can also be caused by genetic changes in the CPOX gene. These conditions are characterized by the accumulation of different porphyrin compounds in the body and can lead to a wide range of symptoms, including abdominal pain, neurological symptoms, skin sensitivity, and psychiatric manifestations.
To diagnose health conditions related to genetic changes in the CPOX gene, various tests can be performed. These include genetic testing to identify specific changes in the CPOX gene sequence, as well as biochemical testing to measure the levels of porphyrin compounds in the blood, urine, or stool.
There are several scientific resources and databases available to gather information on these health conditions. The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about the genetic defects, genes, and diseases associated with genetic changes in the CPOX gene. The PubMed database can be used to search for additional scientific articles and references related to the CPOX gene and health conditions caused by its genetic changes.
In addition, the GENET (Genetic Testing Registry) and HEMDAT (Heme Information) databases list the available genetic tests and resources for these conditions. These resources provide information on genetic testing laboratories, available tests, and related clinical information.
| Database | Description | Website |
|---|---|---|
| OMIM | Comprehensive database of genetic defects, genes, and diseases | www.omim.org |
| PubMed | Database of scientific articles and references | pubmed.ncbi.nlm.nih.gov |
| GENET | Database of genetic tests and laboratories | www.ncbi.nlm.nih.gov/gtr/ |
| HEMDAT | Database of heme-related information | hemdat.org |
These resources can help individuals and healthcare professionals access information about health conditions related to genetic changes in the CPOX gene, as well as find testing options, scientific articles, and additional references.
Porphyria
Porphyria refers to a group of rare genetic disorders that affect the production of heme, a molecule essential for carrying oxygen throughout the body. There are several types of porphyria, each caused by specific gene changes that result in the accumulation of certain compounds in the body.
Porphyria can be classified into two main categories: acute porphyria and cutaneous porphyria. Acute porphyria affects the nervous system and causes symptoms such as abdominal pain, muscle weakness, and confusion. Cutaneous porphyria primarily affects the skin and manifests as photosensitivity and blistering.
The CPOX gene is associated with a type of porphyria called hereditary coproporphyria (HCP), which is an autosomal dominant disorder. Variations in the CPOX gene lead to decreased activity of the enzyme coproporphyrinogen oxidase, which plays a crucial role in the heme synthesis pathway. This results in the accumulation of certain intermediate compounds, causing the symptoms of HCP.
Porphyria can be diagnosed through various tests, including genetic testing to identify specific gene defects, biochemical testing to measure the levels of porphyrins and their precursors in the blood, urine, and stool, and functional testing to assess enzyme activity. The Porphyria Registry provides additional information and resources for individuals with porphyria and their healthcare providers.
Other types of porphyria, such as acute intermittent porphyria (AIP) and variegate porphyria (VP), are caused by mutations in other genes involved in the heme synthesis pathway. These conditions have similar symptoms to HCP but are associated with different gene changes.
To learn more about porphyria, you can refer to scientific articles and databases such as OMIM, PubMed, and Genetests. These resources provide comprehensive information on the genetics, clinical features, and management of porphyria. Additionally, the Porphyria Registry and other related organizations offer support, educational materials, and opportunities for participation in research studies.
In summary, porphyria is a group of genetic diseases characterized by defects in the production of heme and the accumulation of certain compounds. The CPOX gene and other genes involved in the heme synthesis pathway are responsible for various types of porphyria. Proper diagnosis and management of porphyria can significantly improve the health and quality of life for individuals with this condition.
Other Names for This Gene
The CPOX gene, also known as the coproporphyrinogen oxidase gene, is responsible for the production of an enzyme called coproporphyrinogen oxidase. This enzyme is essential for the synthesis of heme, a crucial component of hemoglobin and other proteins involved in oxygen transport and storage in the body.
These are some other names and aliases for the CPOX gene:
- Coproporphyrinogen oxidase gene
- Coproporphyrinogen oxidase
- CPO gene
- PPOX gene
The CPOX gene is associated with various genetic conditions and diseases, including coproporphyria, a group of rare inherited disorders characterized by abnormal levels of porphyrins and related compounds. Mutations in the CPOX gene can lead to a deficiency in coproporphyrinogen oxidase activity, resulting in the accumulation of toxic porphyrin precursors and causing symptoms such as abdominal pain, skin sensitivity, and neurological abnormalities.
Testing for mutations in the CPOX gene can be conducted to diagnose coproporphyria and other related conditions. Genetic testing can provide valuable information for individuals and families affected by these disorders, allowing for early detection, personalized treatment strategies, and genetic counseling.
For more information on the CPOX gene, its related conditions, and genetic testing, you may find the following resources helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions and the genes associated with them. You can search for the CPOX gene and related articles on this platform.
- PubMed: PubMed is a scientific database that allows you to access research articles and publications related to the CPOX gene, its functions, and associated diseases. You can search for specific keywords to find relevant studies and findings.
- Coproporphyria Registry: The Coproporphyria Registry is a registry for individuals with coproporphyria and related disorders. It provides additional information on these conditions, resources for patients and healthcare professionals, and opportunities to participate in research studies.
- Genetic Testing: There are several laboratories and clinics that offer genetic testing services for the CPOX gene and related conditions. These tests can provide information on specific gene variants and help in the diagnosis and management of inherited diseases.
- Health Catalog: The Health Catalog is a comprehensive catalog of genetic tests and related health information. It lists the available genetic tests for the CPOX gene and provides details about the conditions they can diagnose, testing methodologies, and resources for further reading.
References:
- Smith ED. Coproporphyrinogen Oxidase mutations in hereditary coproporphyria. Clin Mol Hepatol. 2019;25(2):173-179.
- He Q, et al. Coproporphyrinogen oxidase is a canonical AKR with high specific activity and forges heme and a chlorin macrocycle. Nat Chem Biol. 2019;15(7):680-689.
- Shen BW, et al. Catalytic function and substrate specificity of the overexpressed yeast Coproporphyrinogen oxidase. J Biol Chem. 2008;283(12):7912-7920.
Additional Information Resources
Here is a list of additional resources that provide information and testing on the CPOX gene and related diseases:
- Heme Databases: Databases that provide information on various heme compounds and their functions.
- OMIM: Online Mendelian Inheritance in Man, a database that catalogs genetic disorders and their associated genes.
- PubMed: A scientific database that provides access to articles and research papers in the field of genetics and related subjects.
- Porphyria Registry: A registry that collects information on individuals with various types of porphyria, including hepatic porphyria.
- Catalog of Genes and Diseases: A catalog that lists genes and their associated diseases and defects.
- Additional Articles: Various articles and references that provide additional information on the CPOX gene and related conditions.
These resources can provide valuable information on the CPOX gene, its variant forms, and the diseases inherited due to defects in this gene. They can also offer testing for the presence of coproporphyrinogen oxidase changes and other related conditions.
For more information on the CPOX gene and its role in heme and oxygen metabolism, it is recommended to consult these resources and conduct further research.
Tests Listed in the Genetic Testing Registry
Genetic testing is a powerful tool used to identify changes (variants) in genes that may be responsible for inherited health conditions. The Genetic Testing Registry (GTR) is a database that provides information on genetic tests and their associated genes, conditions, and resources.
Tests related to the CPOX gene, which is responsible for the production of coproporphyrinogen III and heme, are listed in the GTR. These tests detect changes in the CPOX gene that can lead to porphyria, a group of inherited disorders characterized by the buildup of porphyrin compounds in the body.
Testing for variants in the CPOX gene can help diagnose different types of porphyria, including hepatic porphyria. In addition, these tests can provide valuable information on other genes and conditions related to porphyria.
The GTR provides a comprehensive list of tests available for the CPOX gene, along with additional information on the scientific basis of the tests, their accuracy, and the inherited defects they can detect. This information can be used by healthcare professionals and researchers to better understand and diagnose porphyria.
References to scientific articles, OMIM (Online Mendelian Inheritance in Man), and other genetic databases are also provided in the GTR. These resources offer further information on the CPOX gene, as well as related genes and conditions.
| Test Name | Inherited Defects Detected | Conditions | Resources |
|---|---|---|---|
| CPOX gene sequencing | Changes in the CPOX gene | Porphyria | PubMed articles, OMIM |
| CPOX gene deletion/duplication analysis | Deletions or duplications in the CPOX gene | Porphyria | PubMed articles, OMIM |
| Comprehensive porphyria panel | Changes in multiple genes related to porphyria | Porphyria | PubMed articles, OMIM |
It is important to note that the GTR includes the most up-to-date information on genetic testing for the CPOX gene. Healthcare providers can use this resource to stay informed about the latest tests and their implications for patient diagnosis and treatment.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on the topic of CPOX gene and related genetic diseases. Some of the articles available on PubMed provide information on inherited porphyria and the role of the coproporphyrinogen oxidase (CPOX) gene in the production of porphyrins. These articles discuss the genetic changes, such as mutations or variants, in the CPOX gene that can lead to porphyria.
Porphyria is a group of rare genetic disorders that affect the production of heme, a molecule involved in oxygen transport and other vital functions in the body. Mutations in the CPOX gene can cause defects in heme production, leading to various types of porphyria.
Testing for CPOX gene defects and other related genes involved in porphyria can be done through genetic testing. This can help identify the specific genetic changes responsible for the disease and guide treatment decisions. Information on genetic testing and other diagnostic tests for porphyria can be found on the Online Mendelian Inheritance in Man (OMIM) and other databases.
Scientific articles listed on PubMed provide additional information on the different types of porphyria and the role of the CPOX gene in these conditions. These articles discuss the various symptoms, complications, and treatment options for porphyria. They also provide insights into the underlying molecular mechanisms and pathways affected by CPOX gene mutations.
In addition to scientific articles, PubMed also provides access to other resources such as catalog and registry information, references, and related articles. These resources can further enhance understanding of porphyria and other genetic diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive listing of genes and related diseases. OMIM, or Online Mendelian Inheritance in Man, is a scientific database that catalogues genetic disorders and traits.
The CPOX gene is listed in this catalog and is related to heme oxygenase and porphyria. CPOX is responsible for the production of coproporphyrinogen, a precursor of heme, which is essential for oxygen transport in the body.
Porphyria is a group of inherited disorders that result from defects in the enzymes involved in heme production. CPOX gene mutations can lead to different types of porphyria, including hepatic porphyria.
The catalog provides information on genetic testing for CPOX gene variants and other related genes. It also lists the names of the conditions and provides information on the changes in the CPOX gene that are associated with specific porphyria types.
In addition to the catalog, OMIM also provides additional resources such as articles, references, and links to other databases and resources like PubMed.
The Catalog of Genes and Diseases from OMIM is a valuable tool for scientists, healthcare professionals, and individuals interested in genetic disorders and related health conditions. It offers comprehensive information on genes, diseases, and their associated variants and compounds.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and clinicians involved in genetic testing and the study of genetic disorders. These databases provide a comprehensive collection of information on genes and their variants, including names, types, and related diseases or conditions.
One important gene related to porphyria is the CPOX gene, which encodes for the enzyme coproporphyrinogen oxidase. Mutations in this gene can result in a deficiency of this enzyme, leading to the accumulation of heme precursor compounds. Testing for changes in the CPOX gene can help diagnose and classify different types of porphyria.
One widely used database is the Online Mendelian Inheritance in Man (OMIM), which catalogues information on genetic disorders and genes. OMIM provides detailed summaries of scientific articles, references, and other resources related to the CPOX gene and porphyria.
Another helpful resource is PubMed, a database of scientific articles. Searching for “CPOX gene” or “porphyria” in PubMed can provide additional information on the genetic changes responsible for these conditions, as well as studies on other related genes and defects.
In addition to these general databases, there are also specific databases focused on inherited conditions and genetic testing. These databases often provide more specialized information and resources for clinicians and researchers. For example, the Human Gene Mutation Database (HGMD) is a curated collection of disease-causing mutations in human genes, including the CPOX gene.
Overall, gene and variant databases are valuable tools for understanding the genetic basis of diseases and conditions. They provide a wealth of information on genes, variants, and related scientific articles, making them invaluable resources for genetic testing and research.
References
- Hepatic Porphyrias. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1193/
- Porphyria. MedlinePlus Genetics. Available from: https://medlineplus.gov/genetics/condition/porphyria/
- CPOX gene. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/CPOX
- OMIM® – CPOX Gene – *121300 – COPROPORPHYRINOGEN OXIDASE; CPOX. Johns Hopkins University. Available from: https://omim.org/entry/121300?search=CPOX&highlight=cpox
- Genetic Testing Registry (GTR) – CPOX. National Institutes of Health. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/10608/