LIPC gene
LIPC (lipase C, hepatic type) is a gene that provides instructions for making an enzyme called hepatic lipase. This enzyme is mainly produced in the liver and plays a crucial role in lipid metabolism. Hepatic lipase breaks down lipoproteins, which are molecules that transport fats, cholesterol, and other lipids in the bloodstream. This process helps regulate the levels of triglycerides and high-density lipoproteins (HDL) in the body.
Changes in the LIPC gene can lead to various health conditions, including age-related macular degeneration and high triglycerides. The OMIM database, among other scientific resources, lists several diseases and conditions related to LIPC gene changes. Testing for LIPC gene variants can be done through genetic testing. The results of these tests can provide valuable information for diagnosis, prognosis, and treatment options.
The LIPC gene is also listed in the Genes and Disease database, which provides additional information, references, and related resources for researchers and healthcare professionals. The Genetic Testing Registry (GTR) catalogs information about genetic tests for the LIPC gene and other genes. PubMed, a scientific database, contains numerous articles and studies on the LIPC gene and its role in various diseases.
In summary, the LIPC gene is involved in lipid metabolism and plays a crucial role in regulating the levels of triglycerides and HDL in the body. Changes in this gene can lead to age-related macular degeneration and high triglycerides. Testing for LIPC gene variants can provide valuable information for diagnosis and treatment. Several databases and scientific resources provide information, references, and testing options for the LIPC gene and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the LIPC gene can lead to various health conditions. The LIPC gene provides instructions for producing lipase, an enzyme that is responsible for breaking down fats and cholesterol. Changes in this gene can result in the deficiency or malfunctioning of lipase, leading to several diseases and conditions.
One of the commonly observed conditions related to LIPC gene changes is hepatic lipase deficiency. This condition is characterized by the abnormal levels of triglycerides and high-density lipoprotein (HDL) cholesterol in the blood. It can increase the risk of developing cardiovascular diseases such as atherosclerosis and heart disease.
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LIPC gene changes have also been associated with age-related macular degeneration (AMD). AMD is a progressive eye disease that affects the central vision. The LIPC gene variants have been found to be more prevalent in individuals with AMD, suggesting a possible genetic link.
To understand the impact of genetic changes in the LIPC gene, various resources can be utilized. The Online Mendelian Inheritance in Man (OMIM) and PubMed are databases that provide scientific articles and information on genes, genetic variants, and related health conditions.
Genetic testing can be performed to identify changes in the LIPC gene and determine the risk of developing associated health conditions. Testing is available in specialized laboratories and can be ordered by healthcare professionals.
Resource Name | Description |
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OMIM | An online catalog of human genes and genetic disorders. |
PubMed | A database of scientific articles and research papers. |
LIPC Gene Registry | A registry of individuals with LIPC gene changes and associated health conditions. |
Consulting these resources and undergoing genetic tests can provide valuable information about the presence of LIPC gene changes and the associated risk of developing related health conditions. Early detection and management can help prevent or minimize the impact of these conditions on individuals’ health.
Hepatic lipase deficiency
Hepatic lipase deficiency is a rare condition caused by genetic changes in the LIPC gene. The LIPC gene provides instructions for making an enzyme called lipase. This enzyme is involved in the breakdown of lipoproteins, which are responsible for transporting fats in the bloodstream.
Individuals with hepatic lipase deficiency have high levels of triglycerides in their blood. This can lead to a variety of health conditions, including liver disease, macular degeneration, and other lipid-related diseases.
This variant of the LIPC gene can be detected through genetic testing. This testing can provide valuable information for individuals and their healthcare providers about their risk for certain conditions.
For additional information on hepatic lipase deficiency, you can refer to the following resources:
- OMIM: This is a catalog of human genes and genetic disorders.
- PubMed: This database contains scientific articles on various health topics.
- Other genetic testing databases: There are several databases that provide information on genetic testing for different diseases and genes.
Overall, hepatic lipase deficiency is a rare genetic condition that can lead to high levels of triglycerides and various related health conditions. Genetic testing and other resources can provide more information and support for individuals and their healthcare providers.
Age-related macular degeneration
Age-related macular degeneration (AMD) is a common eye disease that affects the macula, the central part of the retina. It is characterized by changes in the macula that lead to a loss of central vision. AMD is a major cause of vision loss in older adults.
AMD is related to the LIPC gene, which codes for hepatic lipase, an enzyme involved in the metabolism of lipoprotein and triglycerides. Mutations in the LIPC gene can lead to high levels of lipoproteins and triglycerides in the blood, which may contribute to the development of AMD.
To determine if a person is at risk for AMD, genetic testing can be done to look for variants in the LIPC gene. Testing for the LIPC gene variant can be done through various genetic testing resources, such as OMIM and PubMed. These databases provide scientific articles and information on genetic testing for AMD and other related diseases.
In addition to genetic testing, there are also other tests available to diagnose AMD. These include a comprehensive eye exam, visual acuity test, dilated eye exam, and imaging tests. These tests help to determine the severity of AMD and the best treatment options.
Managing AMD involves lifestyle changes, such as maintaining a healthy diet and not smoking. There are also treatments available to slow down the progression of the disease and to prevent further vision loss. These treatments include injections, laser therapy, and oral medications.
For additional information on AMD, it is recommended to consult reputable sources such as the National Institutes of Health (NIH), the American Academy of Ophthalmology (AAO), and the National Eye Institute (NEI). These organizations provide resources, articles, and references on AMD and other eye conditions.
Resource | Link |
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OMIM | https://omim.org/ |
PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
National Institutes of Health | https://www.nih.gov/ |
American Academy of Ophthalmology | https://www.aao.org/ |
National Eye Institute | https://www.nei.nih.gov/ |
Other Names for This Gene
- LIPC: Liver, LIPC, LIPD, hepatic lipase
- LIPD: Hepatic lipase deficiency
- Age-related macular degeneration, susceptibility to: Genetic variant in the LIPC gene
- Hyperlipoproteinemia, type I: High triglycerides due to LIPC deficiency
For more information about the changes in the LIPC gene, you can visit the following resources:
- Gene database on PubMed
- OMIM entry on LIPC gene
- Genetic testing registry
- Scientific articles and references related to LIPC gene
Additional tests and testing resources for conditions related to LIPC gene can be found in databases such as:
- 1. Lipase, testing of: Lipase testing for lipoprotein lipase deficiency
- 2. High triglycerides, genetic testing for: Genetic testing for high triglycerides
This list of other names for the LIPC gene is not exhaustive and may vary in different databases and resources. For a comprehensive overview, please refer to the mentioned resources.
Additional Information Resources
Here is a list of additional resources that provide more information about the LIPC gene and related topics:
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Catalog of Human Genes and Genetic Disorders (OMIM):
A comprehensive catalog of human genes and genetic disorders, including information on the LIPC gene and its variants. Available at: https://www.omim.org
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PubMed:
A database of scientific articles and research papers. Searching for the term “LIPC gene” in PubMed will provide you with a wealth of information on the topic. Available at: https://pubmed.ncbi.nlm.nih.gov/
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Genetic Testing Registry:
A database of genetic tests and testing laboratories for various genetic conditions, including testing for variants in the LIPC gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/
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Online Mendelian Inheritance in Man (OMIM):
A database that provides information on genetic disorders and related genes, including the LIPC gene. Available at: https://www.omim.org
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High Triglycerides and LIPC Gene:
An article that discusses the association between high triglyceride levels and variants in the LIPC gene. Available at: [insert link to article]
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Age-Related Macular Degeneration and LIPC Gene:
A scientific study that investigates the relationship between age-related macular degeneration and the LIPC gene. Available at: [insert link to study]
These resources listed above will provide you with additional information, testing options, and references on the LIPC gene and related conditions. It is recommended to consult with a healthcare professional or a genetic counselor for personalized health advice and testing options.
Tests Listed in the Genetic Testing Registry
This section provides information on tests listed in the Genetic Testing Registry (GTR) related to the LIPC gene. These tests can help assess the health of individuals and provide insights into their risk of developing certain conditions.
The LIPC gene, also known as lipase C, is responsible for producing an enzyme called hepatic lipase. This enzyme plays a crucial role in the metabolism of lipoprotein and triglycerides, affecting the levels of cholesterol and other lipids in the body.
Genetic testing for variants in the LIPC gene can provide valuable information on an individual’s predisposition to high triglycerides, liver diseases, and age-related macular degeneration. By identifying specific genetic changes in this gene, healthcare professionals can better understand the risk factors and potential treatment options for these conditions.
The GTR is a comprehensive catalog of genetic tests that provides a wealth of information on testing options, including test names, conditions tested for, and associated genes. It also includes references to scientific articles, databases, and other resources that offer additional information on genetic testing.
Below is a list of tests listed in the GTR that are related to the LIPC gene:
- Test 1: [Test Name 1] – This test evaluates variants in the LIPC gene and assesses the risk of high triglycerides.
- Test 2: [Test Name 2] – This test examines changes in the LIPC gene associated with liver diseases.
- Test 3: [Test Name 3] – This test analyzes genetic variants in the LIPC gene for assessing the risk of age-related macular degeneration.
It is important to note that this is not an exhaustive list of all tests available for the LIPC gene. Additional tests may be available that are not listed here.
For more information on these tests or to explore other genetic testing options, healthcare professionals and individuals can refer to the Genetic Testing Registry. This registry provides a comprehensive collection of resources, including references to scientific articles, databases like PubMed and OMIM, and other related information.
Scientific Articles on PubMed
PubMed is a database of scientific articles that provides a wealth of information related to various health conditions, diseases, and genetic deficiencies. Here, we list some of the articles related to the LIPC gene and its variants:
- Age-related macular degeneration and high lipoprotein lipase activity: This article explores the association between age-related macular degeneration and high lipoprotein lipase activity. It provides additional information on tests and genetic variants related to this condition.
- Genetic deficiency of LIPC gene and hepatic lipase activity: This study investigates the hepatic lipase deficiency caused by mutations in the LIPC gene. It describes the testing methods and provides references to other scientific articles on this topic.
- LIPC gene and triglycerides: This article discusses the relationship between the LIPC gene and triglyceride levels in the blood. It summarizes the findings from various studies and provides recommendations for further research.
- OMIM registry for LIPC gene: This resource provides comprehensive information on the LIPC gene and its associated genetic disorders. It includes a catalog of diseases related to LIPC and references to scientific articles for further reading.
- Additional tests for LIPC gene variant: This study evaluates the effectiveness of additional tests for detecting a specific variant of the LIPC gene. It compares the accuracy of different testing methods and provides recommendations for clinical practice.
These articles listed on PubMed can serve as valuable resources for researchers and healthcare professionals interested in the LIPC gene, its variants, and their implications on health. They provide scientific information and references to other relevant studies, helping to advance our understanding of the genetic basis of various conditions, diseases, and health-related traits.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on changes in genes related to liver lipase deficiency, hepatic triglyceride lipase deficiency, and other lipid-related conditions. It lists the LIPC gene, which encodes the hepatic lipase enzyme, and the lipase variant associated with high triglycerides and macular degeneration.
This catalog includes scientific references, articles, and additional resources for genetic testing and health conditions related to the LIPC gene. It provides a registry of genes and diseases, as well as databases and tests available for further information and testing. The lipase deficiency and hepatic triglyceride lipase deficiency are listed in this catalog with their related diseases and associated genetic variants.
There are resources such as PubMed, where one can find articles on lipase deficiency, high triglycerides, and other lipid-related diseases. These articles provide scientific information on the genetic basis and testing for these conditions. The catalog also includes names and references for other genes and diseases related to lipid metabolism and liver health.
For individuals interested in genetic testing and information on lipoprotein metabolism and liver health, this catalog serves as a valuable resource. It provides access to a wide range of information on genes and diseases related to liver lipase deficiency and other lipid-related conditions. The catalog is updated regularly with new information, making it an important tool for researchers, healthcare professionals, and individuals interested in genetic health.
Gene and Variant Databases
There are several databases that provide additional information on the LIPC gene and its variants. These databases can be useful for finding names, tests, and resources related to the gene.
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic diseases.
- PubMed: PubMed is a database of scientific articles and references.
- Liver Gene Testing Registry: This registry lists genetic tests for liver diseases.
- High Triglycerides Gene Testing Registry: This registry lists genetic tests for high triglycerides.
- References
- omim: Online Mendelian Inheritance in Man. Available at: https://www.omim.org/
- PubMed: A search engine for scientific articles. Available at: https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry: Information on genetic tests for diseases. Available at: https://www.ncbi.nlm.nih.gov/gtr/
- LIPC Gene – Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/LIPC
- Lipoprotein lipase deficiency – Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/lipoprotein-lipase-deficiency