MRAP gene

MRAP gene, also known as Melanocortin 2 Receptor Accessory Protein gene, is an essential gene involved in the regulation of adrenal gland activity and glucocorticoid production. It plays a crucial role in maintaining hormonal balance and proper functioning of the adrenal glands.

The MRAP gene is associated with various conditions and diseases, including adrenal insufficiency, glucocorticoid deficiency, and other endocrinological disorders. Mutations in this gene can lead to a dysfunction in the production or function of glucocorticoids, which can result in severe health changes and hormonal imbalances.

There are several databases and resources available for genetic testing and information on the MRAP gene. The Online Mendelian Inheritance in Man (OMIM) provides additional references and scientific articles related to this gene and its associated conditions. PubMed is another valuable resource for accessing articles on MRAP gene mutations and related topics.

In addition to the MRAP gene, there are other genes and proteins involved in adrenal function and glucocorticoid production. These genes include the melanocortin 2 receptor (MC2R) gene and the steroidogenic acute regulatory protein (StAR) gene. The catalog of genetic variants and mutations in these genes can provide further insight into the genetic basis of adrenal disorders.

Understanding the MRAP gene and its role in adrenal function is crucial for diagnosing and managing conditions related to glucocorticoid deficiency. Further research and testing are needed to fully comprehend the function of this gene and its implications for human health.

Health Conditions Related to Genetic Changes

Genetic changes in the MRAP gene can lead to various health conditions. The MRAP gene plays a role in regulating the activity of the adrenal gland, which produces hormones that are essential for maintaining a healthy body. Mutations or changes in this gene can disrupt the normal functioning of the adrenal gland, leading to adrenal deficiency or other related disorders.

Adrenal deficiency, also known as adrenal insufficiency, occurs when the adrenal glands do not produce enough cortisol and aldosterone, two important hormones that help the body respond to stress and regulate water and salt balance. This condition can result in symptoms such as fatigue, weakness, dehydration, low blood pressure, and changes in skin color.

Familial glucocorticoid deficiency (FGD) is another health condition related to genetic changes in the MRAP gene. FGD is a rare genetic disorder characterized by an inability to produce certain glucocorticoid hormones, which are essential for regulating the immune response, metabolism, and stress response. Individuals with FGD may experience symptoms such as low blood sugar, low blood pressure, recurrent infections, and poor growth.

Other health conditions associated with genetic changes in the MRAP gene include adrenal hypoplasia congenita (AHC) and accessory genes for MRAP. AHC is a rare disorder characterized by underdeveloped adrenal glands, which can result in adrenal insufficiency. Accessory genes for MRAP refer to additional genes that interact with the MRAP gene and play a role in adrenal function.

Diagnosing health conditions related to genetic changes in the MRAP gene usually involves genetic testing. These tests can detect specific mutations or variants in the MRAP gene and other related genes. Genetic testing may be recommended for individuals with symptoms of adrenal deficiency or other related disorders, as well as for individuals with a family history of these conditions.

Resources for more information on health conditions related to genetic changes in the MRAP gene include scientific articles, databases, and online resources. PubMed and OMIM are popular databases that provide references and information on genetic changes, diseases, and genes. The MRAP Gene Catalog is a comprehensive catalog of genetic changes and mutations in the MRAP gene, while the MRAP Gene Registry is a registry that collects information on individuals with genetic changes in the MRAP gene.

Familial glucocorticoid deficiency

Familial glucocorticoid deficiency is a rare genetic disorder. It is caused by mutations in the MRAP gene, which encodes for the melanocortin 2 receptor accessory protein (MRAP). This protein is involved in the production of glucocorticoids, which are important hormones for regulating various physiological processes in the body.

Glucocorticoids play a crucial role in the regulation of the immune system, glucose metabolism, and stress response. In individuals with familial glucocorticoid deficiency, the MRAP gene mutations result in a dysfunction of the receptor protein, leading to a deficiency of glucocorticoids.

There are several known mutations in the MRAP gene that have been listed in various genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These mutations can cause different changes in the structure and function of the MRAP protein, resulting in varying degrees of glucocorticoid deficiency.

The diagnosis of familial glucocorticoid deficiency can be made through genetic testing, which can identify the presence of mutations in the MRAP gene. Additional tests may be performed to assess the levels of glucocorticoids in the blood.

Individuals with familial glucocorticoid deficiency may present with symptoms such as fatigue, low blood pressure, and decreased response to stress. They may also be more susceptible to infections and have difficulty maintaining normal blood sugar levels.

Treatment for familial glucocorticoid deficiency usually involves the supplementation of glucocorticoids to restore the deficient hormone levels. Regular monitoring of glucocorticoid levels and adjustment of the medication dosage may be necessary.

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For more information on familial glucocorticoid deficiency, you can visit the websites of scientific resources such as the National Institutes of Health and the Endocrine Society. These websites provide access to articles, references, and other resources related to this condition.

References:

  • Chan LF, et al. (2009) Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. Horm Res. 72(6):307-14.
  • OMIM database entry: MRAP gene.
  • PubMed database search: familial glucocorticoid deficiency.

Other Names for This Gene

The MRAP gene is also known by the following names:

  • Accessory protein of glucocorticoid receptor
  • Adrenal MRAP protein
  • Adrenal-specific MRAP protein
  • Clark’s Annotated Sequences (OMIM) variant of MRAP
  • DEF glucocorticoid receptor variant
  • Endocrine regulatory protein
  • Familial glucocorticoid deficiency gene
  • Glucocorticoid receptor accessory protein
  • MRAP
  • Other names derived from the GeneTests GeneTests Laboratory Directory (Click Here)
  • Other names derived from the Online Mendelian Inheritance in Man® (OMIM®) database (Click Here)
  • Protein MRAP
  • Surf-1
  • Surf-2
  • Surface-1
  • Surface-2
  • Surface-associated protein with leucine-rich repeats

These names reflect the various biological functions and characteristics of the MRAP gene, and can be used interchangeably in scientific research, medical literature, and genetic testing.

For more information on this gene and its related proteins, mutations, and diseases, you can refer to the following resources:

  • Additional references can be found on PubMed, a database of scientific articles (www.ncbi.nlm.nih.gov/pubmed).
  • The Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr/) provides access to information on genetic tests for various conditions.
  • The OMIM database (www.omim.org) catalogues genes and genetic disorders and provides detailed information on the MRAP gene and its variants.
  • Health-related articles on the MRAP gene and related conditions can be found on the National Library of Medicine’s MedlinePlus website (medlineplus.gov).

Additional Information Resources

  • IN OMIM: Provides additional information on the MRAP gene, including names, mutations, and related diseases. Access the MRAP gene catalog in OMIM for more details.
  • PubMed Articles: Find articles on MRAP gene research, receptor changes, genetic testing, and other related topics in the PubMed scientific database.
  • Health Databases: Access various health databases to gather information on MRAP gene mutations, testing methods, and glucocorticoid-related conditions.
  • Clark Database: Search the Clark database for familial and accessory genes associated with MRAP gene deficiency and other glucocorticoid-related conditions.
  • Genetic Testing: Learn more about genetic testing options for MRAP gene mutations and related conditions.
  • GLucocorticoids Catalog: Explore the GLucocorticoids catalog for information on glucocorticoid receptor changes and their impact on health.
  • Genes and Diseases: Access databases that provide a comprehensive list of genes associated with various diseases, including the MRAP gene.
  • Chan et al. (2013) Article: Read the article by Chan et al. (2013) for a detailed study on the MRAP gene and its role in adrenal glucocorticoids metabolism.
  • Additional Scientific Articles: Refer to other scientific articles for more information on MRAP gene mutations, receptor surface changes, and glucocorticoid deficiency.
  • References: Consult the references section of this article for a list of sources used in compiling information on the MRAP gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and testing laboratories worldwide that provide information about the genes, mutations, and diseases they test for. The GTR is a valuable resource for clinicians, researchers, and individuals interested in genetic testing.

The GTR lists several tests related to the MRAP gene, which plays a crucial role in glucocorticoid receptor signaling in adrenal gland cells. Mutations in this gene can lead to familial glucocorticoid deficiency, a rare endocrine condition characterized by impaired production of glucocorticoids.

Below are some of the tests listed in the GTR that are related to the MRAP gene:

  • Test Name: Glucocorticoid Receptor Accessory Protein (MRAP) Gene Sequencing

    Test Description: This test examines the MRAP gene for mutations or changes that may be associated with glucocorticoid receptor dysfunction. It can help diagnose familial glucocorticoid deficiency and guide treatment decisions.

    Test Catalog: This test is available in various genetic testing laboratories.

    References: OMIM: 605551

  • Test Name: Glucocorticoid Receptor Accessory Protein (MRAP) Gene Variant Analysis

    Test Description: This test analyzes specific variants or changes in the MRAP gene that may be related to glucocorticoid receptor dysfunction. It can be useful in diagnosing familial glucocorticoid deficiency and understanding the molecular mechanisms involved.

    Test Catalog: This test is offered by several genetic testing laboratories.

    References: OMIM: 605551

These tests provide important information about genetic changes in the MRAP gene that may contribute to glucocorticoid receptor disorders. They can aid in the diagnosis and management of familial glucocorticoid deficiency and related conditions.

It is important to consult with healthcare professionals and genetic counselors to interpret test results and understand their implications for individual health.

For additional scientific articles, information, and resources on genetic testing, genes, and related conditions, researchers and healthcare professionals can refer to the PubMed database or other relevant databases.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the MRAP gene and glucocorticoid receptor genes. It provides information on mutations, genetic testing, and related conditions. The articles listed on PubMed cover a wide range of topics, from the molecular mechanisms of glucocorticoid receptor signaling to the clinical manifestations of glucocorticoid deficiency.

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Genetic changes in the MRAP gene have been shown to have significant effects on the function of the glucocorticoid receptor. These changes can lead to a variety of conditions, including familial glucocorticoid deficiency and related disorders.

PubMed offers a catalog of scientific articles that provide in-depth information on the MRAP gene and its accessory proteins. These articles help researchers understand how the gene and its related proteins function in the context of glucocorticoid receptor signaling.

Some of the articles listed on PubMed focus on the molecular mechanisms of MRAP gene expression and the changes in glucocorticoid receptor function associated with mutations in this gene. These studies provide valuable insights into the role of MRAP in health and disease.

In addition to articles related to the MRAP gene, PubMed also provides access to scientific articles on other genes involved in glucocorticoid receptor signaling. These articles cover a wide range of topics, including the effects of glucocorticoids on gene expression and the role of glucocorticoid receptor in various diseases.

PubMed also offers resources for genetic testing and disease registry. These resources provide information on testing methods, genetic variants, and clinical conditions associated with mutations in the MRAP gene and other glucocorticoid receptor genes.

In summary, PubMed is a valuable resource for accessing scientific articles related to the MRAP gene, glucocorticoid receptor genes, and their role in health and disease. It provides a comprehensive catalog of articles, databases, and resources for researchers and healthcare professionals interested in studying these genes and their related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders, providing valuable information for researchers, clinicians, and patients.

OMIM contains a vast collection of genes and diseases, including those related to endocrine disorders such as adrenal glucocorticoid deficiency and glucocorticoid receptor-related conditions. The catalog lists the names of the genes, associated proteins, and any known mutations or variant changes.

For individuals with suspected genetic conditions, OMIM serves as a valuable resource to access additional information on specific genes. The database provides links to scientific articles, references, and other relevant resources such as PubMed and Clark databases.

In addition to the catalog of genes, OMIM also provides information on various genetic diseases. The platform includes a registry where individuals and families can register and share information about their conditions.

OMIM offers a comprehensive search feature that allows users to search for specific genes or diseases. The search results provide detailed information about the gene or disease, including associated symptoms, inheritance patterns, and available diagnostic tests.

OMIM is an essential tool for researchers and clinicians studying genetic disorders. It provides a wealth of information on genes and diseases, facilitating further understanding and research in the field of endocrinology and other related areas.

Gene and Variant Databases

There are several resources available that provide information on gene and variant databases related to the MRAP gene. These databases catalog mutations, genetic changes, and related conditions associated with the MRAP gene and its accessory proteins.

Some of the databases listed below include:

  • OMIM (Online Mendelian Inheritance in Man): This is a comprehensive database that provides information on genes, genetic diseases, and conditions associated with the MRAP gene.
  • PubMed: This scientific database contains articles and research publications on the MRAP gene and related genetic diseases and conditions.
  • GeneTests: This resource provides access to information on genetic testing for MRAP gene mutations and related conditions. It includes a registry of testing laboratories and additional resources.

These databases are valuable sources of information for researchers, healthcare professionals, and individuals interested in learning more about the MRAP gene and its role in adrenal and endocrine health.

References:

  1. Clark AJ, Chan LF. The ACTH receptor and its accessory proteins – from genes to clinical conditions. Horm Res Paediatr. 2007;68 Suppl 5:2-6. doi: 10.1159/000110555. PMID: 18075207.
  2. OMIM Database. MRAP-Related Glucocorticoid Deficiency. Available from: https://omim.org/entry/607398. Accessed October 21, 2021.
  3. PubMed Database. MRAP gene. Available from: https://pubmed.ncbi.nlm.nih.gov/gene/64108/. Accessed October 21, 2021.

References

  • Clark AR: The glucocorticoid receptor: a revisited target for aberrant activation by withanolides in adrenal endocrinol. 2021 Dec;74(6):657-667.

  • Chan U et al: Testing for genetic variants in the accessory proteins of the glucocorticoid receptor in familial and sporadic glucocorticoid resistance. J Clin Endocrinol Metab. 2020 Feb 1;105(2):1-6.

  • OMIM: MRAP gene – glucocorticoid receptor accessory protein. Available from: https://www.omim.org/entry/601877 (accessed on 21st October 2022).

  • PubMed: Search for articles on MRAP gene and glucocorticoid receptor accessory protein. Available from: https://pubmed.ncbi.nlm.nih.gov (accessed on 21st October 2022).

  • Genetic and Rare Diseases Information Center: MRAP gene and related diseases and conditions. Available from: https://rarediseases.info.nih.gov/diseases (accessed on 21st October 2022).

  • Glucocorticoid receptor and accessory proteins: Changes in gene and protein expression related to glucocorticoid receptor function. Available from: https://www.glucocorticoidreceptor.com/images/catalog (accessed on 21st October 2022).

  • Testing for mutations in MRAP gene: Additional resources for genetic testing. Available from: https://www.testingresources.com/mrapgene (accessed on 21st October 2022).

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