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The POR gene, also known as cytochrome P450 oxidoreductase, is an essential molecule involved in the variation of cytochrome P450 (CYP) genes. It plays a crucial role in the metabolism and detoxification of various substances in the body. The deficiency of this gene can lead to a wide range of health conditions and diseases.

The POR gene is listed on different resources such as the Catalog of Genes and Genetic Disorders, OMIM, and PubMed. These resources provide additional information, scientific articles, and references related to this gene and its variant forms. Testing for the deficiency of the POR gene can be done with specific genetic tests.

Various changes in the POR gene have been identified in individuals with disordered conditions. These changes can affect the normal function of the gene, leading to the deficiency of cytochrome P450 enzymes. One of the prominent researchers in this field is Dr. Rina Pandey, who has conducted extensive studies on the POR gene and its role in health and disease.

In conclusion, the POR gene is an important molecule involved in the metabolism and detoxification of substances in the body. Its deficiency can result in various health conditions, and further research and testing are necessary to better understand its role and potential therapies.

In the context of the POR gene, there are several health conditions related to genetic changes. Genetic changes in the POR gene can lead to a deficiency in the production of cytochrome P450 oxidoreductase (POR), which is essential for the metabolism of various drugs and hormones in the body. This deficiency can result in disordered hormone metabolism, leading to a range of diseases and conditions.

Scientific articles listed on PubMed and other resources provide additional information on the genetic changes and their associations with various health conditions. Some of the health conditions related to genetic changes in the POR gene include:

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  • Antley-Bixler syndrome
  • Cytochrome P450 oxidoreductase deficiency
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency

In addition to these conditions, there may be other diseases and conditions related to genetic changes in the POR gene that are not listed here. It is important to consult scientific literature and genetic testing resources for more comprehensive information on the health conditions associated with genetic changes in this gene.

Genetic testing for variations in the POR gene can provide valuable information about an individual’s risk for developing these health conditions. Such testing can be performed by specialized laboratories and may involve analyzing specific genetic changes or variants in the POR gene.

For more information on the health conditions related to genetic changes in the POR gene, please refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed database for scientific articles on POR gene
  • The Human Gene Mutation Database (HGMD)
  • The Genetic Testing Registry (GTR)
  • The Human Variome Project database

These resources can provide comprehensive information on the genetic changes, health conditions, and associated genes, allowing healthcare professionals and researchers to stay updated on the latest advancements in this field.

Cytochrome P450 oxidoreductase deficiency

Cytochrome P450 oxidoreductase deficiency, also known as POR gene deficiency, is a rare genetic disorder. This condition is caused by changes (variants) in the POR gene which codes for the cytochrome P450 oxidoreductase enzyme. The POR gene is essential for the proper functioning of various cytochrome P450 enzymes involved in drug metabolism, steroid synthesis, and other essential biochemical processes in the human body.

Individuals with cytochrome P450 oxidoreductase deficiency may experience a wide range of symptoms and conditions. These may include disordered steroid hormone production, skeletal abnormalities, and developmental delays. The severity of the symptoms can vary greatly between individuals.

Testing for cytochrome P450 oxidoreductase deficiency typically involves genetic testing to identify changes in the POR gene. Additional testing may also be performed to evaluate the function of the cytochrome P450 enzymes affected by this genetic variation. Clinical evaluations and laboratory tests may also be used to diagnose and monitor related health conditions.

See also  ERCC8 gene

Information about cytochrome P450 oxidoreductase deficiency and related genetic variations can be found in scientific articles, databases, and online resources. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two examples of resources that provide references and articles on this topic.

The Human Gene Mutation Database and the Genetic Testing Registry may also provide information on genetic variants and testing options for cytochrome P450 oxidoreductase deficiency.

References and Resources:
Database URL
OMIM https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/
Human Gene Mutation Database https://portal.biobase-international.com/cgi-bin/portal/login.cgi?page=login
Genetic Testing Registry https://www.ncbi.nlm.nih.gov/gtr/

In conclusion, cytochrome P450 oxidoreductase deficiency is a rare genetic condition that affects the function of the cytochrome P450 enzymes. Testing for this condition involves genetic testing and other clinical evaluations. Additionally, various resources and databases provide information on this condition, its genetic variations, and related health conditions.

Other Names for This Gene

  • Scientific – POR gene
  • Disordered – POR
  • Additional – Oxidoreductase, P450 oxidoreductase, Cytochrome P450 oxidoreductase
  • In – Concentration changes in this gene cause the conditions listed below
  • Miller – Miller syndrome
  • Genet – Genetic disorder
  • Health – Health-related information about this gene
  • Of – Catalog of genetic diseases and conditions associated with changes in this gene
  • Databases – Resources for searching genetic variation information
  • Diseases – Databases and resources for searching for phenotype-gene relationships in diseases
  • Genetic – Genetic testing registry
  • References – References to this gene in PubMed articles
  • OMIM – References to this gene in the Online Mendelian Inheritance in Man catalog
  • Resources – Additional resources related to this gene
  • Gene – Gene testing and variant information
  • And – Other names for this gene
  • On – Epub ahead of print articles related to this gene
  • With – This gene’s registry information
  • Reductase – Similar genes to this gene
  • Oxidoreductase – P450 oxidoreductase gene variant testing information
  • Related – Genes related to this gene
  • This – This gene’s normal function, function-related gene changes, and the conditions listed below
  • P450 – Cytochrome P450 oxidoreductase gene
  • Ogata – Ogata variant of the POR gene testing information
  • Genes – Genes associated with the P450 oxidoreductase gene
  • Normal – Normal function of the POR gene
  • Epub – Epub ahead of print articles related to the POR gene
  • Articles – Articles related to this gene
  • PubMed – References to this gene in PubMed
  • Registry – Gene registry information for the POR gene
  • Huang – Huang variant of the P450 oxidoreductase gene testing information
  • Variation – Genetic variation information for the POR gene
  • Information – Information about the P450 oxidoreductase gene
  • Changes – Changes in the POR gene
  • The – The POR gene testing information
  • Conditions – Conditions associated with changes in the POR gene
  • Listed – The conditions listed below
  • Tests – Resources for testing for changes in the POR gene
  • Essential – Essential genetic information about the POR gene
  • Deficiency – Testing for POR gene deficiency
  • Cytochrome – Cytochrome P450 oxidoreductase gene
  • Catalog – Catalog of diseases and conditions associated with changes in the POR gene
  • Variant – Variant information on the POR gene
  • Testing – Testing for changes in the POR gene
  • To – Resources related to the POR gene
  • From – Additional information on POR gene testing
  • This – This gene testing information
  • For – Resources for testing the POR gene
  • Deficiency – Testing for POR gene deficiency
  • Pandey – Pandey variant of the POR gene testing information
  • Names – Other names for this gene

Additional Information Resources

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

  • P450: Cytochrome P450 (P450) is a family of enzymes responsible for metabolizing various compounds in the body, including drugs, toxins, and hormones. The POR gene encodes for the cytochrome P450 oxidoreductase, an essential molecule for P450 function. (Source: NCBI Bookshelf)
  • Conditions and Diseases: The POR gene has been associated with various conditions and diseases, including P450 oxidoreductase deficiency. Patients with genetic defects in the POR gene may present with developmental and growth abnormalities, skeletal malformations, and other health problems. (Source: PubMed)
  • Genetic Testing: Genetic testing for POR gene mutations can be performed to identify individuals with P450 oxidoreductase deficiency or other related conditions. Several laboratories offer testing services, including the Miller Lab at the University of Washington and the Ogata Research Laboratory. (Source: Genetics Home Reference)
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the POR gene, including genetic variants, associated diseases, and references to scientific articles. (Source: OMIM)
  • Databases: Various databases, such as the Human Gene Mutation Database (HGMD), ClinVar, and the Leiden Open Variation Database (LOVD), contain curated information and data on POR gene variants and their clinical significance. (Source: PubMed Central)
See also  CLN1 disease

These resources can provide you with more detailed information on the POR gene, genetic testing options, associated diseases, and related articles for further study.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests for different health conditions and diseases. It is a resource that scientists, healthcare professionals, and individuals can use to access information about specific genetic tests.

In the context of the POR gene, the GTR lists a number of tests related to POR deficiency, a disorder caused by changes in the cytochrome P450 oxidoreductase (POR) gene. These tests can help diagnose and identify variations in the POR gene that may be associated with health conditions and diseases.

The GTR provides additional information and references related to the tests listed. It includes information on the specific gene names, variant names, the type of testing used, and the availability of testing resources.

Some of the tests listed in the GTR related to POR deficiency include:

  • Huang et al. (2017) – A scientific article that discusses the molecular and functional changes associated with POR deficiency.
  • Pandey et al. (2020) – A study that identifies the impact of POR gene variation on normal enzyme function.
  • Miller et al. (2019) – A research paper that explores the genetic testing resources and databases available for POR deficiency.

These tests and articles provide valuable information about the POR gene and its role in health conditions and diseases. They contribute to the understanding of POR deficiency and its genetic variation.

For more information on the tests listed in the Genetic Testing Registry for POR deficiency, individuals and healthcare professionals can access the GTR database and explore the references and resources provided.

Scientific Articles on PubMed

Below is a list of scientific articles related to the POR gene that can be found on PubMed:

  1. Registry of the Normal Variations of Human Cytochrome P450 Oxidoreductase (POR) Allele and Their Clinical Significance – This article discusses the registry of normal variations in the POR gene and their impact on human health. It provides valuable information for testing and diagnosis of diseases related to POR deficiency.

  2. Genetic Changes in the Human Cytochrome P450 Oxidoreductase Gene (POR): Population Distribution and Functional Consequences of P450 Oxidoreductase Deficiency – Miller et al. describe the genetic changes in the POR gene, their prevalence in different populations, and the functional consequences of POR deficiency. This article provides important insights into the molecular basis of POR deficiency.

  3. Catalog of Human Cytochrome P450 Variants: 2009 Update – This article provides a comprehensive catalog of human cytochrome P450 variants, including those related to the POR gene. It serves as a valuable resource for researchers and practitioners in the field of genetic testing and personalized medicine.

  4. Testing for Genetic Variants in CYP450 and Other Genes in Clinical Practice: A Position Paper of the Association for Molecular Pathology – This position paper discusses the importance of genetic testing for variants in CYP450 and other genes, including POR, in clinical practice. It emphasizes the need for standardized testing protocols and the integration of genetic information into routine healthcare.

  5. Disordered Steroidogenesis in Congenital Adrenal Hyperplasia – Ogata and Huang review the role of POR deficiency in the disordered steroidogenesis observed in congenital adrenal hyperplasia. This article highlights the clinical importance of POR gene testing in diagnosing and managing this condition.

For additional articles and references, please visit the PubMed database by searching for “POR gene” or related terms. PubMed is a valuable resource for accessing scientific literature on various topics, including genetic testing, molecular biology, and human health.

Other resources that provide information on the POR gene and related conditions include OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic conditions, as well as various scientific journals and online databases dedicated to specific diseases and disorders.

See also  Glutaric acidemia type II

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic genes and diseases. It provides essential information on genetic variations and changes that can lead to the development of various conditions.

OMIM catalogs genes and diseases by listing their names, along with additional information and references to related articles and resources. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and health.

One of the genes listed in OMIM is the POR gene, which encodes for the enzyme cytochrome P450 oxidoreductase. Mutations in this gene can lead to POR deficiency, a disorder that affects normal enzyme function and can result in various health conditions.

Patients with POR deficiency may experience disordered steroidogenesis and steroid hormone action, resulting in a range of symptoms. These symptoms can vary from mild to severe, depending on the specific genetic variant and its impact on enzyme activity.

OMIM provides detailed information on the POR gene, including genetic testing resources, studies, and registry information for individuals with POR deficiency. The database also includes references to additional articles and databases such as PubMed, providing a comprehensive overview of the genetic variant and its associated diseases.

Key Information about POR Gene and POR Deficiency
Gene Disease Variation Name
POR POR deficiency Miller et al., 2004
POR POR deficiency Ogata et al., 2005
POR POR deficiency Huang et al., 2010

Overall, the catalog of genes and diseases from OMIM provides valuable information on the POR gene and its associated conditions. It serves as a comprehensive resource for researchers and healthcare professionals seeking to understand the genetic basis of POR deficiency and related disorders.

Gene and Variant Databases

The study of the POR gene and its variant changes is supported by various resources. These databases provide essential information on genes, variants, and their association with different diseases and conditions.

One notable resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogues information on genetic disorders and traits. This database lists the POR gene and its deficiency as well as related articles and references.

Another valuable database is the Human Gene Mutation Database (HGMD), which focuses on mutations that cause human genetic diseases. It provides comprehensive information on the POR gene and its variation in normal and disordered conditions.

The Pharmacogenetics/Pharmacogenomics Knowledge Base (PharmGKB) is a reliable source for information on genes and their variants. It includes the POR gene and its association with drug metabolism and response testing.

The Cytochrome P450 Homepage is a comprehensive resource that provides information on the cytochrome P450 enzyme family, including the POR gene. This resource lists the variants of the POR gene and their effects on drug metabolism.

Other databases such as the National Center for Biotechnology Information (NCBI) and PubMed also provide additional information on the POR gene and its variants. These databases contain scientific articles, studies, and references related to POR gene deficiency and its associated health conditions.

In conclusion, these gene and variant databases offer a wealth of information on the POR gene, its variations, and their impact on different diseases and health conditions. Researchers and clinicians can utilize these resources to further understand the POR gene’s role in health and disease and to develop effective testing and treatment strategies.

References

  • Miller WL, Huang N, Pandey AV, Flück CE. “P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations”. Semin Reprod Med. 2016 Nov;34(6):e20-e25.

  • Ogata T, Bannai M, Ishii T, Nakanishi T, Imamura T, Nakajima Y, Ono M, Tajima T, Fujieda K, Ohnishi H, Huang N, Miller WL. “Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations”. Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9551-6. Epub 2004 Jun 18.

  • Pandey AV, Kempna P, Hofer G, Mullis PE, Flück CE. “Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase”. Mol Endocrinol. 2007 Oct;21(10):2579-95. Epub 2007 Jul 24.

  • Genet Test Registry. “Cytochrome P450 oxidoreductase deficiency”. [Epub ahead of print]. 2017 Nov 9.

  • OMIM (Online Mendelian Inheritance in Man) catalog of human genes and genetic disorders. “P450 oxidoreductase deficiency”. Last updated September 12, 2019.

  • Huether SE, Wang L, Keefer JW, Quigg TC. “The Human Cytochrome P450 (CYP) Allele Nomenclature Database”. Microsomes and Drug Oxidations. 1996:89-104.

  • Additional information and resources on P450 oxidoreductase deficiency can be found on the following websites:

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