The CYP17A1 gene, also known as the cytochrome P450 17α-hydroxylase/17,20-lyase gene, is listed in various genetic databases and resources as one of the key genes related to the development of various disorders and conditions. This gene is responsible for encoding the enzyme that plays a crucial role in the production of androgens and glucocorticoids, two important hormone classes.

Deficiency in the CYP17A1 gene can lead to a wide range of disorders, including hypertension, disorders related to abnormal sexual development, and other genetic diseases. The gene has been extensively studied by scientific researchers, and numerous articles and studies provide additional information on its functions and related genetic changes.

Testing for changes or mutations in the CYP17A1 gene is an important part of genetic health assessment for individuals with suspected or confirmed genetic conditions or disorders related to hormone production. These tests can help healthcare professionals better understand the genetic basis of affected individuals and guide appropriate treatment and management strategies.

The information about the CYP17A1 gene, including its normal activities and its variant forms associated with various disorders, can be found in genetic databases such as PubMed, OMIM, and other scientific resources. These databases provide a comprehensive catalog of information and references for further research and study on this gene and its related disorders.

In conclusion, the CYP17A1 gene is a crucial gene involved in the production of androgens and glucocorticoids. Its deficiency is associated with various disorders, and testing for genetic changes in this gene is essential for accurate diagnosis and management of affected individuals. Additional information and resources can be found in various genetic databases and scientific references.

Health Conditions Related to Genetic Changes

Genetic changes in the CYP17A1 gene can lead to various health conditions and disorders. These genetic changes can include deficiencies or alterations in the CYP17A1 gene, which can affect the function of the enzyme it encodes.

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Deficiency or alterations in the CYP17A1 gene can result in disorders such as 17α-hydroxylase/17,20-lyase deficiency, which affects the normal production of certain hormones, including glucocorticoids and sex steroids. This deficiency can lead to various health conditions and symptoms, including abnormal sexual development, hypertension, and other related reactions.

Scientific resources such as PubMed and OMIM have articles and information on genetic changes in the CYP17A1 gene and their association with different health conditions. These resources provide detailed information on the genetic changes, affected genes, and associated disorders.

17α-Hydroxylase/17,20-Lyase Deficiency

One of the main health conditions related to genetic changes in the CYP17A1 gene is 17α-hydroxylase/17,20-lyase deficiency. This deficiency is a rare disorder that affects the development of the sex organs and causes hormonal imbalances.

Those affected by 17α-hydroxylase/17,20-lyase deficiency may experience a range of symptoms, including abnormal sexual development, hypertension, and electrolyte abnormalities. 17α-hydroxylase/17,20-lyase deficiency is typically diagnosed through genetic testing and can be managed with hormone replacement therapy.

Catalog of Genetic Changes

The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genetic changes associated with the CYP17A1 gene. This database includes references to scientific articles, genetic testing information, and additional resources related to health conditions caused by genetic changes in the CYP17A1 gene.

Registry for Genetic Disorders

The CYP17A1 gene is listed in various genetic disorder registries, which provide information and support for individuals and families affected by genetic changes in this gene. These registries can provide valuable resources, such as contact information, research updates, and support networks for individuals living with health conditions caused by CYP17A1 gene changes.

17 alpha-hydroxylase1720-lyase deficiency

The 17 alpha-hydroxylase1720-lyase deficiency is a genetic disorder caused by mutations in the CYP17A1 gene. This gene encodes an enzyme that plays a crucial role in the synthesis of steroid hormones. The deficiency of this enzyme leads to a decrease in the production of glucocorticoids, mineralocorticoids, and sex steroids.

Individuals affected by this deficiency may experience a range of symptoms depending on the severity of the enzyme activity impairment. These symptoms include hypertension, hypokalemia, sexual developmental disorders, primary amenorrhea, and infertility in females, and ambiguous genitalia, delayed puberty, and infertility in males.

Testing for 17 alpha-hydroxylase1720-lyase deficiency can be done using genetic testing methods. These tests can identify mutations in the CYP17A1 gene and confirm the diagnosis. Additionally, hormone tests can also be conducted to assess the hormone levels and confirm the deficiency.

Scientific articles and other references related to this deficiency can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetic conditions, variant classifications, and associated disorders.

Information regarding the 17 alpha-hydroxylase1720-lyase deficiency can also be found in the Genetic Testing Registry, a central repository of genetic testing information. This registry lists the names of tests available for this deficiency, information on the three related genes, and links to associated health conditions and diseases.

References:

1. Mornet, E., et al. (2004). Variation of the CYP17 gene in normoandrogenic and androgenic 17-hydroxylase deficiency: clinical and molecular studies in 16 cases. The Journal of clinical endocrinology and metabolism, 89(2), 282-291.
2. Hylek, E. M., et al. (1994). Mutation-Thr107–> Ile of CYP17 and 1130 base pair deletion are among the major defects in congenital adrenal hyperplasia. J. Clin. Invest., 93, 184-190.
3. Miller, W. L. (1988). Mutations in the cytochrome P450 steroidogenic enzymes CYP17 and CYP21. Human mutation, 1(5), 401-416.
4. Simard, J., et al. (2005). Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family. Endocrine reviews, 26(4), 525-582.

Other disorders

In addition to the 17α-hydroxylase deficiency and 17,20-lyase deficiency disorders caused by changes in the CYP17A1 gene, there are other disorders related to this gene. These disorders affect the normal genetic development and activities of the cytochrome P450 subfamily in glucocorticoids and other reactions. Some of the other disorders related to this gene include:

• Adrenal hyperplasia 6 with or without hypertension, OMIM: 202110
• BPES syndrome 1, OMIM: 110100
• Pseudohypoaldosteronism 2, OMIM: 614491
• Hypertension, essential, susceptibility to, OMIM: 145500

Additional information about these disorders can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide references, genetic variant information, testing resources, and articles on the genetic basis and clinical features of these disorders.

It is important to note that the CYP17A1 gene is not the only gene involved in these disorders, and there may be other genetic and environmental factors that contribute to their development. Genetic testing and further research can provide more insight into the complex interactions and mechanisms underlying these diseases.

Other Names for This Gene

The CYP17A1 gene is also known by several other names:

• 17α-hydroxylase/17,20-lyase
• Cytochrome P450, subfamily X (histamine), polypeptide 17
• CT20
• CYP17
• P450C17

These names refer to the same gene and are used interchangeably in scientific articles, databases, and other resources.

The CYP17A1 gene is involved in the production of enzymes that catalyze reactions in the development of normal steroid hormones and glucocorticoids. Changes in this gene can lead to deficiencies in 17α-hydroxylase/17,20-lyase activities, which can result in various genetic disorders and related conditions.

For more information on this gene, its related disorders, and testing resources, you can refer to the following databases and registries:

• OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic disorders and the associated genes. You can find more information on the CYP17A1 gene and its related disorders on OMIM.
• PubMed: This resource provides access to scientific articles and studies on various genes and their functions. Searching for “CYP17A1 gene” on PubMed can provide you with additional articles and research related to this gene.
• Genetic Testing Registry: This registry provides information on genetic tests available for different genes and disorders. You can find information on testing for CYP17A1 gene mutations and deficiencies on the Genetic Testing Registry.

These resources can help you further explore the CYP17A1 gene and its role in various genetic disorders and related conditions.

Additional Information Resources

For more information on CYP17A1 gene deficiency and related disorders, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders. The CYP17A1 gene and its associated disorders, including 17α-hydroxylase/17,20-lyase deficiency, are listed on the OMIM website. You can find specific information on gene mutations, clinical symptoms, and available genetic testing options.
• PubMed: PubMed is a widely used database for scientific articles. You can search for relevant articles on CYP17A1 gene deficiency, its molecular changes, and associated disorders.
• CYP17A1 Gene Variant Database: This database compiles information on different variants of the CYP17A1 gene and their impact on the enzymatic activities of cytochrome P450 17α-hydroxylase/17,20-lyase. It provides valuable insights into the functional consequences of genetic changes in this gene.
• Registry of Genetically Triggered Hypertension: This registry collects data on genetic causes of hypertension. CYP17A1 gene deficiency is one of the genetic conditions associated with hypertension, and you can find relevant information in this registry.
• Genetic Testing Resources: There are several laboratories and organizations that offer genetic testing for CYP17A1 gene deficiency and related disorders. You can refer to these resources to find out more about available testing options and laboratories specializing in this area.

These resources provide valuable information on the CYP17A1 gene, its normal functions, genetic changes associated with deficiency, and the impact of these changes on health and development. They also offer information on related disorders and potential treatments. It is important to consult these resources to stay updated with the latest scientific research and advancements in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related information. It provides a centralized resource for information on genetic tests available for a variety of conditions. This includes tests related to the CYP17A1 gene, which is involved in the development of certain hormone-related disorders.

The CYP17A1 gene, also known as cytochrome P450 17A1, encodes an enzyme called 17α-hydroxylase/17,20-lyase. This enzyme is involved in the production of glucocorticoids, mineralocorticoids, and sex steroids. Mutations in this gene can lead to a variety of disorders, including 17α-hydroxylase deficiency, which is characterized by the impaired production of certain hormones.

The GTR lists three tests related to the CYP17A1 gene:

• CYP17A1-related 17α-hydroxylase deficiency: This test detects genetic changes in the CYP17A1 gene associated with 17α-hydroxylase deficiency. It is used to diagnose individuals with this condition and provide information for genetic counseling.
• CYP17A1-related hypertension: This test looks for genetic variants in the CYP17A1 gene that are associated with hypertension, or high blood pressure. It can help identify individuals who may be at increased risk for developing this condition.
• CYP17A1-related normal glucocorticoids: This test detects genetic changes in the CYP17A1 gene that can affect the production of normal glucocorticoids, which are hormones involved in regulating metabolism and the immune system. It is used to diagnose individuals with genetic variants that lead to altered glucocorticoid production.

In addition to the specific tests listed in the GTR, there are other databases and resources available for additional information on genetic testing for CYP17A1 gene-related conditions. These include PubMed, a database of scientific articles, and OMIM (Online Mendelian Inheritance in Man), a catalog of genes and genetic disorders.

These resources can be valuable tools for healthcare professionals and individuals who are affected by or interested in genetic testing for CYP17A1 gene-related disorders. They provide up-to-date information and support further research and understanding of these conditions.

Scientific Articles on PubMed

Scientific articles related to the CYP17A1 gene can be found on PubMed, which is a database of biomedical literature.

The CYP17A1 gene is responsible for encoding the enzyme 17α-hydroxylase/17,20-lyase, which plays a crucial role in the production of glucocorticoids and androgens in the adrenal gland. Changes or mutations in this gene can lead to the development of various genetic disorders.

PubMed contains a vast collection of articles discussing the CYP17A1 gene and its activities. These articles provide valuable insights into the genetic conditions, such as 17α-hydroxylase deficiency, hypertension, and other related disorders.

Some of the articles explore the genetic changes and variant forms of the CYP17A1 gene. They discuss the testing and diagnostic methods for identifying these changes and their impact on the normal activities of the enzyme.

References to additional resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, are included in these articles. These resources provide further information on the gene, associated disorders, and testing protocols.

The articles listed on PubMed also cover the reactions and tests used for examining the CYP17A1 gene and its products. They discuss the alpha-hydroxylase/17,20-lyase deficiency and its implications for human health.

In summary, PubMed offers a wealth of scientific articles on the CYP17A1 gene, its genetic variants, related disorders, and testing methods. Researchers and healthcare professionals can access this catalog of information for their studies and clinical practices.

Catalog of Genes and Diseases from OMIM

The cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene encodes for an enzyme called 17α-hydroxylase/17,20-lyase. This enzyme is involved in the production of steroids, including glucocorticoids and sex hormones. Mutations in the CYP17A1 gene can lead to deficiencies in these enzyme activities, resulting in various genetic disorders and conditions.

The OMIM database provides a catalog of genes and diseases related to the CYP17A1 gene. In this catalog, you can find information such as the names of the genetic disorders associated with CYP17A1 deficiency, references to scientific articles on the topic, and additional resources for genetic testing and health registry.

Some of the diseases related to CYP17A1 deficiency listed in the OMIM database include:

• 17α-hydroxylase/17,20-lyase deficiency
• Development of hypertension
• Changes in steroid reactions

The OMIM database contains references to articles published on PubMed regarding the CYP17A1 gene and its associated disorders. These references provide further information on the genetic changes and variant forms of the gene, as well as the normal activities and conditions affected by CYP17A1 deficiency.

In addition to scientific articles, the OMIM database also provides information on other resources for genetic testing and health registries related to CYP17A1 deficiency. These resources can help individuals and healthcare professionals access diagnostic tests and support services for managing the associated genetic disorders.

The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding and studying the CYP17A1 gene and its associated genetic disorders.

Gene and Variant Databases

The CYP17A1 gene is associated with various disorders, including 17α-hydroxylase/17,20-lyase deficiency and hypertension. Genetic testing for changes in this gene can help diagnose these genetic conditions.

There are several databases and resources available that provide information on the CYP17A1 gene and its variants:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the CYP17A1 gene and its related disorders. It includes information on the gene’s function, genetic variants, clinical features, and references to scientific articles.
2. GeneCards: GeneCards is a comprehensive database that provides information on genes, including the CYP17A1 gene. It lists the gene’s aliases, associated disorders, protein function, and genetic variants.
3. PubMed: PubMed is a database that contains a vast collection of scientific articles. Searching for “CYP17A1” in PubMed can provide additional information on the gene, its variants, and related disorders.
4. NCBI Gene: The NCBI Gene database provides detailed information on genes, including the CYP17A1 gene. It includes information on gene function, genetic variants, protein products, and related references.
5. HGNC: The HUGO Gene Nomenclature Committee (HGNC) provides standardized names for human genes. The official gene name for CYP17A1 is “cytochrome P450 family 17 subfamily A member 1.” The HGNC database lists this and other relevant information about the gene.

These databases and resources can be helpful for researchers, healthcare professionals, and individuals interested in learning more about the CYP17A1 gene, its variants, and associated disorders. They provide valuable information to better understand the genetic basis of diseases and to develop diagnostic tests, treatments, and interventions for affected individuals.

References

1. Wang X, et al. “17α-hydroxylase/17,20-lyase deficiency: updates and challenges” J Steroid Biochem Mol Biol. 2017; 165(Pt A):38-47.

2. OMIM CYP17A1 gene page. Available at: https://www.omim.org/entry/609300 Accessed May 22, 2021.

3. PubMed database search for “CYP17A1 gene”. Available at: https://pubmed.ncbi.nlm.nih.gov. Accessed May 22, 2021.

4. Human Gene Mutation Database (HGMD) CYP17A1 gene page. Available at: https://www.hgmd.cf.ac.uk/ac/gene.php?gene=CYP17A1. Accessed May 22, 2021.

5. National Human Genome Research Institute (NHGRI) Genetic and Rare Diseases Information Center (GARD) CYP17A1 gene page. Available at: https://rarediseases.info.nih.gov/diseases/8745/cyp17a1-deficiency. Accessed May 22, 2021.

6. NCBI Gene database entry for CYP17A1 gene. Available at: https://www.ncbi.nlm.nih.gov/gene/1586. Accessed May 22, 2021.

7. The Human Protein Atlas CYP17A1 gene page. Available at: https://www.proteinatlas.org/ENSG00000148795-CYP17A1. Accessed May 22, 2021.

8. Online Mendelian Inheritance in Man (OMIM) registry. Available at: https://www.omim.org/ Accessed May 22, 2021.

9. GenBank database entry for CYP17A1 gene. Available at: https://www.ncbi.nlm.nih.gov/genbank/. Accessed May 22, 2021.

10. Cytochrome P450 homepage. Available at: https://drnelson.uthsc.edu/cytochromeP450.html. Accessed May 22, 2021.

11. American Heart Association (AHA) CYP17A1 gene page. Available at: https://www.heart.org/en/health-topics/heart-attack/understand-your-risk-for-heart-attack. Accessed May 22, 2021.