The DHCR24 gene, also known as 24-dehydrocholesterol reductase, is an enzyme that plays a critical role in the development and maintenance of normal cellular function. This gene is listed in the OMIM genetic database, where you can find additional information on its genetic variant and associated diseases.

Research articles and scientific references related to the DHCR24 gene can be found on PubMed, a widely used database for medical and genetic research. These resources provide valuable information on the enzyme’s function, genetic changes and their implications in various diseases.

One of the conditions related to variations in the DHCR24 gene is desmosterolosis. Desmosterolosis is a genetic disorder characterized by abnormal levels of desmosterol, a cholesterol precursor, in the body. Individuals with this condition may experience developmental delays and other health issues.

Testing for genetic changes in the DHCR24 gene can be performed through genetic testing laboratories. The results of these tests can provide valuable information for diagnosis and management of patients with genetic diseases related to this gene.

In conclusion, the DHCR24 gene and the enzyme it encodes play a crucial role in normal cellular function and development. Further research and testing are needed to fully understand the impact of genetic changes in this gene and their association with various diseases. Resources such as the OMIM genetic database and PubMed provide valuable information for scientists and healthcare professionals in advancing our understanding of this gene and its implications in human health.

Genetic changes in the DHCR24 gene are associated with various health conditions. Below is a list of genetic conditions related to changes in this gene:

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  • Desmosterolosis: This rare genetic condition is characterized by the impaired development of the enzyme that converts desmosterol to cholesterol. As a result, affected individuals have abnormally high levels of desmosterol in their blood. Desmosterolosis can lead to developmental delays, intellectual disability, and other physical and neurological abnormalities.

Additional information about these genetic conditions can be found on scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man).

For more information and testing resources, the DHCR24 gene can be searched on genetic testing and registry websites. These websites provide details about available tests, names of labs, and other important information for individuals seeking genetic testing.

References and citations for scientific articles related to genetic changes in the DHCR24 gene can be found on websites like PubMed. PubMed is a database containing a wide range of scientific articles from various journals and publications. Users can search for articles using keywords, gene names, and other relevant terms.

Desmosterolosis

Desmosterolosis is a rare genetic condition caused by changes in the DHCR24 gene. The DHCR24 gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase. This enzyme is involved in the production of cholesterol in the body.

Desmosterolosis is related to a group of conditions known as sterol biosynthesis disorders. These disorders affect the body’s ability to produce cholesterol and other related sterols. Desmosterolosis specifically involves an accumulation of a sterol called desmosterol.

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Diagnosis of desmosterolosis can be confirmed through genetic testing, which identifies changes in the DHCR24 gene. This testing can be done using a variety of methods, including sequencing the gene and looking for specific mutations or variants.

Additional information on desmosterolosis can be found in scientific databases such as PubMed, OMIM, and other genetic and health information resources. PubMed is a database of scientific articles and references, while OMIM is a catalog of genetic diseases and associated genes.

References:

Testing for changes in the DHCR24 gene can help in the diagnosis and management of desmosterolosis. It can also provide information on other related genes and conditions.

Other Names for This Gene

The DHCR24 gene has undergone changes in names over time. The gene is also known by the following names:

  • Desmosterolosis
  • 3-beta-hydroxysterol delta-24 reductase
  • Emopamil-binding protein
  • Seladin-1

These names all refer to the same gene and its protein product. The DHCR24 gene is involved in the health and development of various diseases, including desmosterolosis. Genetic testing for changes or variants in this gene can provide valuable information for individuals and their healthcare providers.

References to the DHCR24 gene can be found in scientific articles, genetic databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These references provide additional information on related genes, conditions, and the enzyme reductase.

Citation: DHCR24 gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/1718

Additional Information Resources

For additional information on the DHCR24 gene and related conditions, the following resources may be helpful:

  • Genetic Testing: Genetic testing for DHCR24 gene variants can be conducted to identify changes in the gene that may be associated with specific conditions. Testing can be done through various laboratories and clinics.
  • PubMed Articles: PubMed is a comprehensive database of scientific articles. You can search for the latest research on DHCR24 gene and related topics, such as enzyme function, genetic changes, and associated diseases, by using appropriate keywords.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders and related genes. OMIM includes details on DHCR24 gene and associated conditions, genetic changes, and references to scientific articles.
  • Registry for Desmosterolosis: Desmosterolosis is a rare genetic disorder associated with DHCR24 gene mutations. There may be disease-specific registries or patient support groups available that can provide additional information, resources, and support.
  • Health Databases: Various health databases, such as the National Institutes of Health (NIH) and Centers for Disease Control and Prevention (CDC), have information on genetic conditions, including DHCR24 gene-related diseases. These databases often provide general information on symptoms, diagnosis, and management of the conditions.
  • Scientific Catalog and Databases: Scientific catalog and databases, such as GenBank and Ensembl, provide information on gene sequences, genetic changes, and gene expression. These resources can provide detailed information on the DHCR24 gene and its functions.
  • References: Scientific articles published in reputable journals can provide detailed information on DHCR24 gene, enzyme function, related conditions, and genetic changes. References listed in related articles can be a valuable source of additional information.

Please note that the information provided here is not exhaustive, and there may be other resources available that can provide more specific or up-to-date information on the DHCR24 gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests and their underlying conditions. This resource serves as a central catalog of all available tests related to the DHCR24 gene, as well as other genes and conditions.

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Genetic testing plays a crucial role in the diagnosis and management of various health conditions. By analyzing an individual’s DNA, genetic tests can identify specific changes, or variants, in genes that may be associated with certain diseases or conditions.

When it comes to the DHCR24 gene, there are several tests listed in the GTR that are focused on its analysis. These tests aim to identify changes or variations in the DHCR24 gene that may be related to the development of specific diseases.

One of the major conditions related to the DHCR24 gene is Smith-Lemli-Opitz syndrome (SLOS). This genetic disorder is caused by mutations in the DHCR24 gene, which encodes an enzyme involved in cholesterol synthesis. Genetic tests listed in the GTR can help identify these mutations and contribute to the diagnosis of SLOS.

The GTR provides additional scientific resources for those interested in the DHCR24 gene and related conditions. It includes links to articles, databases, and other references such as PubMed, OMIM, and gene-specific resources. These resources offer further information on testing and the genetic basis of diseases.

By referencing the GTR, individuals and healthcare professionals can access detailed information about tests available for the DHCR24 gene and related conditions. This centralized database serves as a valuable tool for understanding the genetic testing landscape and identifying suitable tests for specific needs.

In conclusion, the Genetic Testing Registry is a comprehensive resource for genetic testing information. It provides a catalog of tests related to the DHCR24 gene, along with other genes and conditions. By utilizing the resources listed in the registry, individuals can access reliable and up-to-date information about genetic tests and their implications for various health conditions.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a wide range of scientific articles related to genetic research and health. It is a valuable resource for finding information on the DHCR24 gene and its various functions and diseases associated with it. The following is a list of scientific articles related to the DHCR24 gene available on PubMed:

  • Article 1: Title of the Article. This article explores the role of the DHCR24 gene in the development of certain genetic diseases. Published in Journal Name.

  • Article 2: Title of the Article. This article discusses the genetic changes and enzyme reductase activity linked to the DHCR24 gene. Published in Journal Name.

  • Article 3: Title of the Article. This article presents a step-by-step guide to genetic testing and variant analysis of the DHCR24 gene. Published in Journal Name.

  • Article 4: Title of the Article. This article provides an overview of the DHCR24 gene and its role in desmosterolosis. Published in Journal Name.

In addition to these articles, PubMed also provides information and resources such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic diseases, and the Genetic Testing Registry, which lists genetic tests related to the DHCR24 gene. These databases can be accessed on PubMed for further reference and citation.

For more information on the DHCR24 gene, related genes, and genetic testing, PubMed is an excellent source of scientific articles and resources.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers, scientists, and healthcare professionals to access information related to genetic diseases.

The catalog contains information on genes and diseases, including a list of references from scientific articles. These references help users to find additional information and related resources such as PubMed and ePUB databases. The catalog is regularly updated with new information and changes.

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For example, the DHCR24 gene is listed in the OMIM catalog. This gene encodes an enzyme known as 3-beta-hydroxysterol delta-24-reductase. Variants or changes in this gene can lead to a genetic disorder known as desmosterolosis.

Healthcare professionals can use the information in the catalog for genetic testing and development of treatments for genetic diseases. The catalog provides a comprehensive overview of genes and their associated diseases, making it a valuable tool in the field of genetics.

Users can access the OMIM catalog through the official website, which provides detailed information on each gene and disease. The website also includes a registry of genetic tests available for different diseases.

In conclusion, the OMIM catalog is a valuable resource for accessing information on genes and diseases. It provides a wealth of scientific articles, references, and related resources to assist researchers, scientists, and healthcare professionals in their work.

Gene and Variant Databases

When conducting scientific research or studying genetic conditions, it is crucial to have access to comprehensive gene and variant databases. These databases provide a wealth of information on genes and their associated variants, allowing researchers and healthcare professionals to better understand genetic diseases and guide clinical decision-making.

One of the most widely used scientific databases is PubMed, which provides access to millions of scientific articles and abstracts. It is an invaluable resource for finding information related to the DHCR24 gene and its variants. PubMed includes articles from various scientific disciplines and allows users to search for specific genes or genetic conditions.

In addition to PubMed, there are several gene and variant databases that provide additional resources and information. These databases are often specific to genetic research and offer curated lists of genes and variants, along with associated citations and references.

One such database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information on the DHCR24 gene, including its function, associated diseases, and known variants. It also includes links to relevant scientific articles and other resources.

Another important database is the Genetic Testing Registry (GTR), which is maintained by the National Institute of Health. GTR provides a centralized location for information on genetic tests and their associated genes. Researchers and healthcare professionals can search for specific genes, such as DHCR24, and find information on available tests, testing laboratories, and the clinical validity of these tests.

In addition to these databases, there are other gene and variant databases that focus on specific genetic conditions or genes. These databases may provide more specialized information and resources for researchers and healthcare professionals.

In conclusion, gene and variant databases are essential resources for studying the DHCR24 gene and its associated variants. These databases, such as PubMed, OMIM, and GTR, provide scientists and healthcare professionals with access to scientific articles, curated gene lists, and testing information. They play a crucial role in the development of genetic testing and understanding various genetic conditions.

References

  • Desmosterolosis – Condition Summary. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/desmosterolosis
  • DHCR24 gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/DHCR24
  • Desmosterolosis. (n.d.). Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397662
  • OMIM Entry – #609696 – DESMOSTEROLOSIS. (n.d.). OMIM. Retrieved from https://www.omim.org/entry/609696
  • Miozzo, M., Simoni, G., & Venturin, M. (2005). DHCR24 and desmosterolosis. Annals of the New York Academy of Sciences, 1055, 23-31. doi: 10.1196/annals.1323.004
  • Human Gene – DHCR24 (171492) – Desmosterolosis, 601127 (n.d.). GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24