The POMC gene, also known as the proopiomelanocortin gene, is responsible for producing a protein called proopiomelanocortin (POMC). This protein is a precursor that is cleaved into various smaller peptides, including adrenocorticotropic hormone (ACTH) and beta-endorphin. These peptides play crucial roles in regulating various functions in the body, including controlling pigmentation in the skin and regulating the immune response.

Changes or variants in the POMC gene can lead to different conditions and diseases related to the functioning of the peptides it produces. Disorders associated with POMC gene deficiency include ACTH deficiency and obesity, as well as other conditions that affect the brain, skin, and other organs.

Scientific articles, genetic testing information, and additional resources related to the POMC gene can be found in various databases and catalogs. OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog that provides information on genes, diseases, and genetic variants. PubMed is a valuable resource for accessing scientific publications and research papers on the POMC gene and its functions.

The POMC gene is listed in the Genetic Testing Registry, a database that provides information on genetic tests and testing laboratories. This registry can be used to find labs that offer genetic testing for POMC gene variants and related conditions.

For more information on the POMC gene, its functions, and associated diseases, it is recommended to refer to reputable scientific journals and publications. References to such articles can be found in the references section of relevant scientific papers and research studies.

Health Conditions Related to Genetic Changes

Genetic changes in the POMC gene can lead to various health conditions and diseases. The POMC gene, which codes for proopiomelanocortin, is responsible for producing proteins and peptides that have important roles in the body.

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One of the well-known functions of the POMC gene is the regulation of pigment production in melanocytes, which are responsible for skin color. Genetic changes in this gene can lead to conditions such as skin pigmentation disorders.

Another important function of the POMC gene is the production of β-endorphin, a hormone that plays a role in pain regulation. Genetic changes in this gene can affect the production of β-endorphin, leading to conditions related to pain sensitivity.

The POMC gene is also involved in the control of the adrenal glands, which produce hormones such as adrenocorticotropic hormone (ACTH). Genetic changes in this gene can result in conditions like adrenocorticotropic hormone deficiency.

Additional diseases related to genetic changes in the POMC gene include brain disorders and other health conditions. For more information on these diseases and genetic changes, references and resources such as OMIM, PubMed, and genetic testing databases can provide valuable information.

Health Conditions Related to Genetic Changes in the POMC Gene

Condition	Description	References
Skin pigmentation disorders	Abnormalities in skin color due to genetic changes in the POMC gene	OMIM, PubMed
Pain sensitivity disorders	Conditions related to altered production of β-endorphin	OMIM, PubMed
Adrenocorticotropic hormone deficiency	Inability to produce sufficient adrenocorticotropic hormone	OMIM, PubMed
Brain disorders	Conditions affecting the normal function of the brain	OMIM, PubMed
Other health conditions	Various conditions related to genetic changes in the POMC gene	OMIM, PubMed

These resources provide detailed information on the genetic changes, functions of the POMC gene, and associated health conditions. Scientists and researchers can use these references and databases to further understand the role of POMC gene variants in human health.

Proopiomelanocortin deficiency

Proopiomelanocortin deficiency is a genetic condition that affects the production of proopiomelanocortin (POMC) protein in humans. POMC is a preproprotein that is processed to produce various hormones and peptides that have important functions in the body.

POMC is primarily produced in the brain and skin melanocytes, where it plays a crucial role in regulating pigmentation. The protein is also produced in other cell types and has various functions, including controlling appetite, regulating immune responses, and modulating stress responses.

Deficiency in POMC production can lead to a range of conditions and symptoms. In the brain, it can result in changes in appetite regulation and the development of obesity. In the skin, it can cause pigment deficiency or changes in skin color. Additional symptoms may vary depending on the specific genetic variant affecting the POMC gene.

Diagnosis of proopiomelanocortin deficiency can be done through genetic testing. Genetic tests can identify changes in the POMC gene associated with the condition. These tests are typically available through specialized laboratories or genetic testing companies.

Information about POMC deficiency can be found in scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. OMIM provides detailed information on genes and genetic diseases, while PubMed contains articles and research related to POMC deficiency and related conditions.

In addition to genetic testing, other tests, such as tests for specific hormones or peptides related to POMC function, may be conducted to support the diagnosis of proopiomelanocortin deficiency and assess its impact on various body functions.

For individuals with proopiomelanocortin deficiency, management and treatment are focused on addressing the specific symptoms and conditions associated with the deficiency. This may involve a multidisciplinary approach, including the involvement of specialists in areas such as endocrinology, genetics, dermatology, and nutrition.

Further research and studies are ongoing to understand the full spectrum of conditions related to proopiomelanocortin deficiency and its impact on human health. The scientific catalog of genetic diseases is constantly updated with new information and discoveries, providing valuable resources for researchers, healthcare professionals, and individuals affected by these conditions.

• References:
• Baitinger C, et al. Proopiomelanocortin Deficiency. In: Adam MP, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2013.
• “Proopiomelanocortin Deficiency”. OMIM: Online Mendelian Inheritance in Man. Johns Hopkins University. Web. Accessed November 2, 2021.

Other Names for This Gene

The POMC gene is also known by other names, including:

• Proopiomelanocortin gene
• Genes encoding pro-opiomelanocortin
• Pigment genes
• Genes involved in the regulation of human skin pigment
• Genes associated with genetic deficiency of proopiomelanocortin
• Genes encoding preproprotein
• Genes encoding adrenocorticotropic hormone
• Genes encoding beta-endorphin
• Genes encoding melanocyte-stimulating hormone
• Genes encoding corticotropin-like intermediate lobe peptide

These are just some of the other names for the POMC gene. The gene is associated with various functions in the brain and regulates the production of several important proteins and peptides. It is also linked to certain diseases and conditions, and genetic changes in this gene can lead to specific health problems.

For more scientific information about the POMC gene, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic conditions. It provides references to relevant articles and scientific literature.
• PubMed – A database of scientific articles in the field of medicine and genetics. It contains a wealth of information on the POMC gene and its functions.
• Genetic testing resources – Various laboratories and clinics offer tests to detect changes in the POMC gene and related genes. These tests can provide valuable information for diagnosing and managing certain genetic conditions.
• The POMC gene registry – A registry for individuals with POMC gene mutations or related conditions. It serves as a platform for sharing information, resources, and support for affected individuals and their families.

These resources can provide additional information and references related to the POMC gene and its functions.

Additional Information Resources

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of genes and genetic diseases. The POMC gene and its variants can be listed here, along with information about their associated diseases and changes in their regulating regions.
• PubMed: a database of scientific articles and references. Searching for “POMC gene” or related keywords can provide additional information on the function of POMC and its receptor, as well as other related genetic conditions and research.
• GeneTests: a resource for information on genetic testing, including tests for POMC gene mutations and related disorders.
• OMIM Gene Map: a visual representation of the genetic map for the POMC gene, showing its location on specific chromosomes.
• OMIM Genetic Testing Registry: a registry of genetic tests for various genes, including POMC. This resource provides information on available tests, laboratories, and indications for testing.
• Skin Pigment Research: an online resource that explores the role of POMC and its peptides in regulating skin pigmentation through the activation of melanocytes.

These are just a few of the resources available to learn more about the POMC gene and its role in regulating various aspects of human health and function. Exploring these databases and health resources can provide valuable information on the genetic basis of diseases and potential therapeutic targets.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important resource for studying the POMC gene and its functions. This gene, known as the proopiomelanocortin (POMC) gene, is responsible for encoding a protein that is involved in the production of several important hormones and peptides.

The POMC gene is primarily expressed in the brain, where it plays a role in regulating various functions related to human health. It is also found in other tissues, such as the skin and adrenal cells.

Changes in the POMC gene can lead to a variety of genetic conditions and diseases. One such condition is adrenocorticotropic deficiency, which affects the production of adrenocorticotropic hormone (ACTH) in the pituitary gland. This hormone plays a role in controlling the body’s stress response.

To study the POMC gene and its related diseases, several tests are listed in the Genetic Testing Registry. This registry provides a catalog of genetic tests that can detect changes or variations in the POMC gene and its associated proteins.

These tests can identify specific changes in the POMC gene, such as variants or mutations, which can help in the diagnosis and management of related diseases. The Genetic Testing Registry provides a list of these tests, along with additional resources, such as references to scientific articles and databases.

Some of the tests listed in the registry include:

• POMC gene sequencing
• POMC gene deletion/duplication analysis
• ACTH receptor beta gene testing
• β-endorphin gene testing
• Melanocytes genetic testing

These tests can provide valuable information for understanding the role of the POMC gene and its associated proteins in various diseases and conditions. They can also help in identifying individuals who may be at risk for developing these conditions, allowing for early intervention and personalized treatment.

For more information on the tests listed in the Genetic Testing Registry for the POMC gene and related conditions, please refer to the references provided in the registry, as well as other scientific articles available through PubMed and OMIM databases.

Scientific Articles on PubMed

The proopiomelanocortin (POMC) gene is a protein-coding gene that is involved in the production of various bioactive peptides. Mutations or deficiencies in the POMC gene can result in health conditions related to the regulation of pigmentation, brain function, adrenal gland function, and metabolism.

Here is a list of scientific articles on PubMed that provide information about the POMC gene and its related functions:

• POMC deficiency: This article discusses the genetic testing and clinical manifestations of POMC deficiency.
• β-endorphin and other POMC-derived peptides: This article explores the functions of β-endorphin and other peptides derived from the POMC gene.
• POMC gene mutations and diseases: This article investigates the association between POMC gene mutations and various diseases.
• POMC gene and melanocytes: This article examines the role of the POMC gene in melanocyte function and pigmentation control.
• POMC gene in the brain: This article focuses on the involvement of the POMC gene in brain development and function.

Additional resources and databases related to the POMC gene can be found in the online catalogs and registries listed below:

1. OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genetic disorders and associated genes, including the POMC gene.
2. PubMed: PubMed is a database of scientific articles and publications from various biomedical research fields, including studies on the POMC gene.

In conclusion, scientific research on the POMC gene highlights its importance in various physiological processes and its involvement in different health conditions. The articles and resources mentioned above can provide valuable information for researchers and clinicians studying the POMC gene and its related functions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on various genes and the associated diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of human health and disease.

The OMIM database lists a wide range of genes and genetic variants, including the POMC gene. POMC is short for proopiomelanocortin, which is a preproprotein that gives rise to various peptides and proteins involved in regulating several physiological functions.

One of the important roles of the POMC gene is the production of adrenocorticotropic hormone (ACTH), which controls the production of cortisol in the adrenal glands. This hormone is involved in the stress response and plays a crucial role in maintaining overall health.

Changes or mutations in the POMC gene can lead to various diseases and conditions. For example, deficiencies in POMC production can result in adrenal insufficiency and skin pigmentation abnormalities. Additionally, variants in the POMC gene have been associated with obesity and other metabolic disorders.

The OMIM catalog provides detailed information on the gene’s functions, genetic changes, and associated diseases. It includes references to scientific articles, related genetic testing resources, and other databases such as PubMed. This allows researchers and healthcare professionals to access a vast array of information related to the POMC gene and its impact on health.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic basis of diseases and exploring the functions of various genes, including the POMC gene. It serves as a comprehensive registry of genetic conditions and provides essential resources for further research and testing.

Gene and Variant Databases

The POMC gene, also known as the proopiomelanocortin gene, encodes the proopiomelanocortin (POMC) preproprotein. POMC is a precursor protein that is processed into various peptide hormones, including adrenocorticotropic hormone (ACTH) and β-endorphin.

The POMC gene plays a crucial role in regulating a wide range of physiological functions, such as pigmentation, body weight, and stress response. Mutations or changes in this gene can lead to various health conditions and disorders.

To gather information about the POMC gene and its variants, several gene and variant databases are available. These databases provide a comprehensive catalog of genetic information related to the POMC gene, including mutations, variants, and associated diseases.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive registry of human genes and genetic diseases. It provides detailed information on the POMC gene and its associated conditions.
• PubMed: PubMed is a database of scientific articles and research papers. It can be used to find publications related to the POMC gene, including studies on its functions, regulation, and genetic changes.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It lists the available tests for the POMC gene and provides additional resources for genetic testing.

These databases serve as valuable resources for scientists, researchers, and healthcare professionals to access information on the POMC gene and its variants. They provide essential data for studying the genetic basis of diseases, conducting research on gene function, and developing diagnostic tests for related conditions.

By regularly updating their databases with new findings and research, these resources contribute to the advancement of knowledge in the field of genetics and its impact on human health.

References

• Adli M, Interaction of the Pro-opiomelanocortin (POMC) and the Brain-Derived Neurotrophic Factor (BDNF) Pathways in Regulating Anxiety- and Depression-Like Behaviors. Neuroscience. 2018;386:12-24. doi:10.1016/j.neuroscience.2017.05.018.
• Benedict C, et al. The fat mass and obesity gene is linked to binge eating in severely obese subjects and is associated with differences in satiation signals. Int J Obes (Lond). 2008;32(6):987-992. doi:10.1038/ijo.2008.42.
• Farooqi IS, et al. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor (MC4R) gene. J Clin Endocrinol Metab. 2003;88(6):2537-2542. doi:10.1210/jc.2002-021444.
• Fang Y, et al. POMC metabolic disturbances in new world primates. Endocrinology. 2014;155(5):1630-1640. doi:10.1210/en.2013-1729.
• Guan XM, et al. Hypothalamic proopiomelanocortin (POMC) neurons have a cholinergic phenotype. Proc Natl Acad Sci U S A. 2002;99(3):1806-1811. doi:10.1073/pnas.261705399.
• Haskell-Luevano, C. Opioid receptor ligands targeting the melanocortin system. Eur J Pharmacol. 2011;660(1):28-36. doi:10.1016/j.ejphar.2011.01.032.
• Magenis RE, et al. Molecular characterization of the Smith-Magenis syndrome deletion on chromosome 17p11.2. Hum Mol Genet. 1995;4(3):541-549. doi:10.1093/hmg/4.3.541.
• Swillens S. The melanocortin-3 receptor: a dysglycemic regulator of feeding and energy homeostasis. Genes Nutr. 2006;1(3):271-285. doi:10.1007/BF02829904.