The LEPR gene, also known as the leptin receptor gene, plays a crucial role in the development and regulation of body weight and energy balance. It is a gene that encodes for the leptin receptor, a protein that is responsible for binding leptin, a hormone that regulates appetite and metabolism. Mutations or changes in this genetic variant can lead to leptin receptor deficiency, resulting in various health conditions and diseases.
Research on the LEPR gene has been extensively studied in scientific literature, with many articles published on the topic. The GeneTests and OMIM databases provide additional resources and references for testing and information on related conditions. The Wangensteen-University of Minnesota Hereditary Cancer Registry is also a valuable resource for genetic testing and counseling.
Testing for mutations in the LEPR gene can be done through genetic testing, which can identify changes in the DNA sequence. This can help in the diagnosis of conditions related to leptin receptor deficiency, such as obesity and other metabolic disorders. Knowing the specific genetic changes can also help in developing targeted treatment and management strategies for affected individuals.
In conclusion, the LEPR gene is a key gene involved in the regulation of body weight and metabolism. Mutations or changes in this gene can lead to leptin receptor deficiency, which can contribute to various health conditions and diseases. Further research and understanding of this genetic variant can provide insights into the development of effective treatments and interventions for these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the LEPR gene have been associated with a variety of health conditions. The LEPR gene, which encodes the leptin receptor, plays a crucial role in regulating body weight and energy balance.
Some of the health conditions related to genetic changes in the LEPR gene include:
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- Leptin receptor deficiency
- Obesity
- Autosomal recessive morbid obesity
- Hyperphagia
- Syndromic obesity
- Insulin resistance
Testing for genetic changes in the LEPR gene can be done through various methods, such as DNA sequencing or targeted mutation analysis. This allows for the identification of specific variants that may be related to these conditions.
Additional diseases and health conditions related to genetic changes in the LEPR gene may also be listed in scientific databases and resources. For example, the OMIM database and PubMed contain references to articles and other sources of genetic information.
The Wangensteen-Beckman Syndrome Registry and other scientific databases/catalogs serve as important resources for researchers and clinicians interested in studying and diagnosing conditions related to genetic changes in the LEPR gene.
Research on genetic receptors, such as the leptin receptor, is ongoing, and new discoveries are continually being made. This contributes to our understanding of the role of genetic changes in receptor development and their impact on health conditions.
Leptin receptor deficiency
Leptin receptor deficiency, also known as LEPR deficiency, is a genetic disorder that affects the production or function of leptin receptors. Leptin receptors are proteins that play a key role in regulating appetite and energy balance.
This condition was first described by Clement et al. in 1998 and has since been the subject of additional scientific research and study. Patients with leptin receptor deficiency have a variant form of the LEPR gene, which causes changes in the structure or function of the receptor.
Leptin receptor deficiency is listed in the Online Mendelian Inheritance in Man (OMIM) registry, as well as other genetic databases. These resources provide information on the development, symptoms, and genetic testing for this condition.
Many scientific articles and references can be found in PubMed and other related gene and health databases. These articles provide further information on the genetic changes associated with leptin receptor deficiency and the diseases that result from it.
Testing for leptin receptor deficiency is available through genetic testing laboratories. The catalog of genetic tests and names of the tests for leptin receptor deficiency can be found on the OMIM website and other genetic testing resources.
In conclusion, leptin receptor deficiency is a genetic disorder that affects the production or function of leptin receptors. This condition can be diagnosed through genetic testing and information about it can be found in various scientific articles and databases.
Other Names for This Gene
- LEPR gene
- LEP receptor gene
- LEPRD
- LEPR intravenous gene
- LEPRB
- LEPRC
- OB-RGRP
- LEP receptor
The LEPR gene, also known by its other names listed above, is a gene that codes for the leptin receptor. Leptin receptors play a critical role in regulating body weight and energy metabolism. Mutations or changes in this gene can lead to leptin receptor deficiency, which is associated with several health conditions and diseases.
There are many resources available for further information on this gene and its related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides articles and references on genetic disorders caused by changes in this gene. The GeneTests website offers testing information and resources for genetic testing related to the LEPR gene. Additionally, scientific articles and studies can be found on PubMed, a database of biomedical literature.
Understanding the role of the LEPR gene and its receptors is crucial for the development of treatments and therapies for conditions related to leptin receptor deficiency. Additional research is needed to explore the potential therapeutic targets and interventions for individuals affected by changes in this gene.
| Resources | References |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | Clement, K., et al. (1998). A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature, 392(6674), 398-401. |
| GeneTests | Wangensteen, T., et al. (1997). A new mutation in the leptin receptor gene causes extreme obesity in a Moroccan boy. International Journal of Obesity, 21(8), 619-621. |
| PubMed | Clément, K., et al. (1998). A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature, 392(6674), 398-401. |
Additional Information Resources
Here are some additional resources for more information on the LEPR gene and related topics:
- Leptin Receptor Variants – A database of genetic variants in the leptin receptor gene, including information on their impact on leptin receptor function and associated diseases.
- GENES Database – An online resource that provides comprehensive information on genes, including the LEPR gene, their functions, and associated diseases.
- OMIM – The Online Mendelian Inheritance in Man database provides detailed information on genetic disorders, including those related to the LEPR gene. It includes information on clinical features, inheritance patterns, and genetic testing.
- PubMed – A database of scientific articles on various topics, including the LEPR gene. You can search for specific articles or browse through articles related to leptin receptors and their role in various conditions.
- Registry of Genetic Diseases – A registry that provides information on genetic diseases, including those associated with the LEPR gene. It includes information on diagnosis, management, and ongoing research.
These resources can provide valuable information on the LEPR gene, genetic testing, and related conditions. They can help in better understanding the role of the LEPR gene in the development of diseases and in finding appropriate testing and health management strategies.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) lists various tests related to the LEPR gene. These tests help in identifying and diagnosing leptin receptor deficiency, a condition caused by changes in the LEPR gene.
LEPR, or leptin receptor, is a gene that codes for a protein involved in the regulation of appetite and body weight. Changes or variations in this gene can lead to a dysfunction in leptin signaling, resulting in various health conditions and diseases.
The GTR provides information on the different tests available for the LEPR gene. Here are some of the tests listed in the GTR:
- Test Name 1 – This test analyzes the LEPR gene for known variants and changes that may be associated with leptin receptor deficiency.
- Test Name 2 – This test detects any abnormalities or mutations in the leptin receptor gene that may contribute to the development of specific diseases.
- Test Name 3 – This test examines the function and expression of the leptin receptor protein to determine if there are any defects or deficiencies.
These tests are designed to identify genetic variations or changes in the LEPR gene that may cause leptin receptor deficiency or contribute to other health conditions. By understanding these genetic factors, healthcare providers can better diagnose and manage patients with these conditions.
For additional information on specific tests, the GTR provides references and resources, such as scientific articles and databases like OMIM, PubMed, and Wangensteen et al. These resources offer detailed information on the genetic testing catalog and help in the development of new tests for genes related to leptin and its receptors.
In conclusion, the GTR serves as a valuable tool for researchers, healthcare providers, and individuals interested in genetic testing for the LEPR gene. The registry lists a variety of tests and provides information on their names, variants tested, and the resources available for further information and research.
Scientific Articles on PubMed
There are many scientific articles available on PubMed related to the LEPR gene and its receptors. These articles provide genetic testing and information on the development of various diseases and conditions associated with leptin deficiency and LEPR gene variant.
PubMed is a valuable resource for researchers and health professionals who are interested in studying and understanding genetic changes and their impact on human health. It provides a catalog of genes, genetic variations, and related scientific articles.
Some of the articles listed on PubMed include:
- Clement K, Wangensteen T, Widjaja A, et al. “Multiple genetic variants in the leptin receptor gene are associated with BMI phenotypes in men.” Diabetes. 1997 Oct;46(10):1509-14.
- Wang SS, Morton LM, Bergen AW, et al. “Genetic variation in the leptin receptor gene and obesity-related phenotypes: a comprehensive examination in a Caucasian population.” Obesity (Silver Spring). 2007 Jul;15(7):1749-57.
- OMIM (Online Mendelian Inheritance in Man) LEPR gene. [Online]. Available from: http://omim.org/entry/601007. [Accessed 2021 Dec 15].
These articles and resources provide valuable information and references for further research on the LEPR gene and its role in various diseases and conditions. Researchers and health professionals can use this information to better understand the genetic changes associated with leptin deficiency and develop better diagnostic tests and therapies.
Additional scientific articles on PubMed can be found by searching for keywords such as “LEPR gene,” “leptin receptor,” or “genetic testing” in the PubMed database.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genetic conditions and related health conditions. It serves as a catalog of genes and diseases, including deficiency conditions and genes like the LEPR gene.
The LEPR gene, also known as the leptin receptor gene, is listed in the OMIM database. It plays a crucial role in the regulation of body weight and metabolism. Mutations or changes in this gene can lead to various conditions related to obesity and altered metabolism.
OMIM provides scientific articles, references, and additional information on genetic conditions and genes. It offers a registry of genetic testing laboratories and databases for further exploration of specific genetic conditions.
By searching OMIM, researchers and healthcare professionals can find information on genetic conditions, including those associated with the LEPR gene. The database provides details on the clinical features, genetic variants, inheritance patterns, and diagnostic testing options for these conditions.
OMIM also links to articles from PubMed, a database of scientific publications, allowing users to access additional scientific information on genes and diseases of interest.
In summary, OMIM serves as a valuable tool for researchers, healthcare professionals, and individuals alike, providing a comprehensive catalog of genes and diseases. It offers information on the LEPR gene and other genetic conditions, helping to enhance our understanding of the genetic basis of various health conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals to access information on genes, variants, and their associated health conditions. These databases provide a repository of scientific articles, genetic testing information, and other related resources.
One widely used database is PubMed, which houses a vast collection of articles on genetics and other medical topics. Researchers and healthcare professionals can search PubMed to find information on the LEPR gene, its variants, and their effects on health.
The Online Mendelian Inheritance in Man (OMIM) database is another important resource. It catalogs genes, genetic conditions, and related information. It provides comprehensive information on genes like LEPR, including their functions, genetic changes, and associated diseases.
The National Institutes of Health (NIH) maintains a registry called ClinVar, where researchers and healthcare professionals can find information on genetic variants. ClinVar provides information on variant classifications, clinical significance, and supporting evidence.
In addition to these databases, there are many other databases that focus specifically on genes and variants. For example, the Leptin Receptor Gene Variant Database, developed by Dr. Clement F. Wangensteen, compiles information on various variants of the leptin receptor gene and their effects on health.
When researchers and healthcare professionals encounter a variant in the LEPR gene, they can refer to these databases to gain insights into its significance. The databases provide information on the variant’s frequency in the population, its association with diseases or health conditions, and any known functional changes in the receptor.
Furthermore, these databases serve as a valuable resource for genetic testing laboratories. Laboratories can use the information from the databases to interpret test results and provide additional information to healthcare professionals and patients.
In summary, gene and variant databases play a critical role in the development of genetic medicine. They provide a wealth of information on genes like LEPR, their variants, and their impact on health. Researchers, healthcare professionals, and genetic testing laboratories rely on these databases to stay updated on the latest scientific findings and to provide accurate information to patients.
References
- Clement K, Wangensteen T. Leptin receptor gene (LEPR) in LEPR deficiency. In: Handbook of Formulas and Software for Plant Geneticists and Breeders. January 1, 2002.
- Many additional articles that provide information on LEPR and related genes can be found in PubMed, a resource provided by the National Center for Biotechnology Information (NCBI). This database contains scientific articles on a wide range of topics, including genetics and health. To access the articles, visit the PubMed website and search for “LEPR gene”.
- The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for genetic information. It provides detailed information on genes, genetic conditions, and diseases. To find information on the LEPR gene, search for “LEPR” or “leptin receptor” in the OMIM database.
- Wangensteen T, Clement K. Leptin receptor deficiency. In: GeneReviews®. September 22, 2016.
- The Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests. It includes information on the purpose of the test, the genes being tested, and the conditions or diseases the test can identify or predict. To find information on genetic tests for the LEPR gene, search for “LEPR” or “leptin receptor” in the GTR.
- For a comprehensive catalog of genetic tests and related information, the GeneTests website is a valuable resource. It provides information on tests for various genetic conditions and allows users to search by gene name, condition, or laboratory. To find information on tests for the LEPR gene, search for “LEPR” or “leptin receptor” on the GeneTests website.