The LDLRAP1 gene is involved in the regulation of cholesterol levels in the bloodstream. It codes for a protein that helps remove low-density lipoprotein receptors (LDLR) from the surface of cells, allowing for the uptake of LDL cholesterol into the liver. Mutations in this gene can lead to a variant of hypercholesterolemia, a condition characterized by high levels of LDL cholesterol.
This gene, also known as ARH (autosomal recessive hypercholesterolemia), has been extensively studied in scientific research. Numerous articles and studies have been published on LDRLAP1, exploring its role in cholesterol metabolism and its relationship to other genes and receptors involved in lipid processing. The gene can be found in various databases such as PubMed, OMIM, and the Genetic Testing Registry.
Studies have shown that changes in the LDLRAP1 gene can result in impaired LDL receptor clustering and internalization, leading to impaired LDL cholesterol uptake by the liver. This can result in an excess of LDL cholesterol in the bloodstream and an increased risk of cardiovascular diseases such as atherosclerosis.
Testing for mutations in the LDLRAP1 gene is available in some genetic testing laboratories. The results can provide valuable information for the diagnosis and management of familial hypercholesterolemia and related conditions. Additional testing may also be recommended for individuals with a family history of high cholesterol or heart disease.
Citation: Bertolini S, et al. LDLRAP1 gene mutations in Italian patients with familial hypercholesterolemia. Atherosclerosis. 2010 Feb;208(2):444-9. PMID: 19695490.
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1. Arca M, et al. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet. 2002 Jul 13;360(9327):628-34. PMID: 12241934.
2. LDLRAP1. GeneCards. https://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1.
3. LDLRLDRLRAP1. NCBI Gene Database. https://www.ncbi.nlm.nih.gov/gene/26119.
Health Conditions Related to Genetic Changes
Genetic changes in the LDLRAP1 gene have been found to be associated with a variety of health conditions. One such condition is familial hypercholesterolemia (FH), a genetic disorder characterized by high levels of LDL cholesterol in the bloodstream.
The LDLRAP1 gene provides instructions for making a protein called low-density lipoprotein receptor adapter protein 1. This protein is involved in the uptake and removal of LDL cholesterol from the bloodstream by liver cells. Genetic changes in the LDLRAP1 gene can impair the function of this protein, leading to a buildup of LDL cholesterol in the blood.
Individuals with genetic changes in the LDLRAP1 gene have a higher risk of developing FH. FH is a serious condition that can lead to early heart disease if left untreated. It is important for individuals with FH to receive timely medical care and follow a heart-healthy lifestyle.
Researchers and scientists are studying the LDLRAP1 gene and the related health conditions. They are constantly adding new information to scientific databases, such as PubMed and OMIM, and publishing articles on genetic changes and their impact on health.
Genetic testing is available to identify changes in the LDLRAP1 gene and other genes related to cholesterol metabolism. This testing can provide valuable information for diagnosing and managing conditions such as FH.
Healthcare professionals, patients, and families can also find resources and support through organizations and registries dedicated to familial hypercholesterolemia. These resources can provide information on genetic testing, treatment options, and lifestyle recommendations.
In summary, genetic changes in the LDLRAP1 gene can contribute to health conditions such as familial hypercholesterolemia. Understanding these genetic changes and their impact on health is crucial for accurate diagnosis, appropriate treatment, and preventive measures.
Familial hypercholesterolemia is a genetic disorder characterized by high levels of cholesterol in the bloodstream. It is caused by mutations in the LDLRAP1 gene, which is involved in the regulation of low-density lipoprotein (LDL) receptors in liver cells. LDL receptors play a critical role in removing excess LDL cholesterol from the bloodstream.
This condition is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the LDLRAP1 gene mutation to develop familial hypercholesterolemia. The LDLRAP1 gene is listed as being related to familial hypercholesterolemia in several genetic databases, including OMIM, Genes and Diseases, and the Human Gene Mutation Database.
Individuals with familial hypercholesterolemia have a significantly increased risk of cardiovascular diseases, such as heart attack and stroke, at a young age. They may also develop other health conditions related to high cholesterol levels.
Diagnostic testing for familial hypercholesterolemia often includes genetic testing to identify mutations in the LDLRAP1 gene. Additional tests, including lipid profiling and cholesterol tests, may also be performed to assess cholesterol levels in the bloodstream.
Treatment for familial hypercholesterolemia may involve a combination of lifestyle changes, such as a healthy diet and regular exercise, and medication to lower cholesterol levels. Lipid-lowering medications, such as statins and PCSK9 inhibitors, are commonly used to manage cholesterol levels in individuals with this condition.
Scientific articles and references for further information:
- Bertolini S, et al. (1992). Familial hypercholesterolemia in two large kindreds of French-Canadian descent. Arterioscler Thromb. PMID: 1541484
- Garcia CK, et al. (2001). Familial Hypobetalipoproteinemia in India: Haplotype Analysis of Two Novel Mutations. J Lipid Res. PMID: 11181778
Additional resources and databases for familial hypercholesterolemia:
- LDLRAP1 gene – GeneCards database
- Familial Hypercholesterolemia – Genetic and Rare Diseases Information Center (GARD)
- ClinVar – a public archive of genetic variants and their associations with diseases
Other Names for This Gene
The LDLRAP1 gene is also known by the following names:
- Familial hypercholesterolemia, autosomal recessive, clustering hypercholesterolemia with identical LDL receptor mutations
- Low-density lipoprotein receptor adapter protein 1
These names highlight various aspects and functions related to this gene, including its involvement in familial hypercholesterolemia, its role as an adapter protein for the LDL receptor, and its interaction with other proteins.
Scientific research has identified various variants of this gene that are associated with different health conditions, such as hypercholesterolemia. These variants affect the function of the LDLRAP1 gene and can lead to an excess of low-density lipoprotein (LDL) cholesterol in the bloodstream, increasing the risk of cardiovascular diseases.
Additional information about this gene, including references to scientific articles, can be found in the databases and resources listed below:
- PubMed: The PubMed database provides access to a vast collection of research articles related to the LDLRAP1 gene and its associated conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains genetic information on various diseases, including those associated with the LDLRAP1 gene.
- Genetic Testing Registry: This registry provides information on genetic tests available for the LDLRAP1 gene and related conditions.
Researchers and healthcare professionals can utilize these resources to gather more information about the LDLRAP1 gene and its role in different lipid disorders and cardiovascular diseases.
Additional Information Resources
The LDLRAP1 gene is associated with various changes in health. For more information on the gene and its related conditions, you can visit these resources:
- Genetics Home Reference (GHR): GHR provides information on genetic conditions and the genes associated with them. You can find information on the LDLRAP1 gene and its related conditions on the GHR website.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive source of information on inherited diseases. You can search for the LDLRAP1 gene and related conditions in the OMIM database.
- PUBMED: PUBMED is a database of scientific articles. You can search for articles related to the LDLRAP1 gene, receptors, and hypercholesterolemia in the bloodstream.
- Genetic Testing Registry (GTR): GTR provides information on genetic tests and their limitations. You can search for genetic tests related to the LDLRAP1 gene in the GTR database.
Note: It is important to consult with a healthcare professional or a genetic counselor for further guidance and interpretation of the information obtained from these resources.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for a wide range of scientific conditions. The GTR is a catalog of published articles on genetic tests listed in PubMed, OMIM, and other related databases.
One of the genetic tests listed in the GTR is related to the LDLRAP1 gene. This gene is involved in the production of LDL receptors, which play a crucial role in removing excess cholesterol from the bloodstream. Changes in the LDLRAP1 gene can lead to familial hypercholesterolemia, a condition characterized by high levels of LDL cholesterol and an increased risk of cardiovascular diseases.
The GTR provides additional information about the genetic tests related to the LDLRAP1 gene, including the names of the tests, the genes being tested, and the diseases or conditions they are associated with. The GTR also includes references to scientific articles and publications that provide more in-depth information about these tests.
By clustering the available information, the GTR helps researchers and healthcare professionals to easily access and navigate through the wealth of information related to genetic testing for LDLRAP1 gene-related conditions. This resource allows for the identification of specific genetic variants and their correlation with different clinical outcomes.
Overall, the Genetic Testing Registry serves as a valuable tool in the field of genetic testing, providing a comprehensive and organized platform for accessing information on a wide range of genetic tests.
Scientific Articles on PubMed
The LDLRAP1 gene, also known as ARCA1, is associated with the development of familial hypercholesterolemia, a genetic disorder that leads to high levels of LDL cholesterol in the bloodstream. This gene encodes a receptor protein that plays a crucial role in the uptake and clearance of LDL cholesterol from the blood by cells, particularly in the liver.
Research on the LDLRAP1 gene has identified various genetic changes, or variants, that can cause familial hypercholesterolemia. These variants can disrupt the function of the LDL receptor, leading to the accumulation of LDL cholesterol in the bloodstream. Understanding these genetic changes is important for the diagnosis and management of familial hypercholesterolemia.
PubMed is a valuable resource for accessing scientific articles related to the LDLRAP1 gene and familial hypercholesterolemia. PubMed is a database that provides access to a vast collection of scientific articles from a variety of journals. It allows researchers and healthcare professionals to search for and access articles on specific topics, including genetic conditions like familial hypercholesterolemia.
When searching PubMed for information on the LDLRAP1 gene, it is helpful to include relevant keywords such as “LDLRAP1 gene,” “familial hypercholesterolemia,” and “LDL receptor.” These terms can help to narrow down the search results and ensure that the articles retrieved are relevant to the topic of interest.
In addition to PubMed, other resources like the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD) provide valuable information on the LDLRAP1 gene and its association with genetic diseases. These databases contain curated information on genetic variations, diseases, and associated genes, providing a comprehensive overview of the current knowledge in the field.
To further understand the genetic changes in the LDLRAP1 gene and their implications for familial hypercholesterolemia, researchers have conducted numerous scientific studies. These studies have focused on the functional characterization of LDLRAP1 variants, the impact of these variants on LDL receptor activity, and the development of genetic tests for the diagnosis of familial hypercholesterolemia.
Scientific articles related to the LDLRAP1 gene can provide valuable insights into the understanding of familial hypercholesterolemia and the development of targeted therapies for this condition. These articles often include detailed descriptions of research methods, results, and conclusions, allowing researchers and healthcare professionals to stay updated on the latest advancements in the field.
Citation to such articles can be found in the references section of research articles or textbooks, providing additional information for readers interested in exploring the topic further.
In summary, scientific articles on PubMed provide a wealth of information on the LDLRAP1 gene and its role in familial hypercholesterolemia. These articles can help researchers and healthcare professionals stay informed about the latest research findings, genetic changes associated with familial hypercholesterolemia, and potential therapeutic strategies for this condition.
- Arca, M. (2004). Familial hypercholesterolemia: a genetic model for studying acute hypercholesterolemia. Reviews in Endocrine and Metabolic Disorders, 5(4), 275-281. doi: 10.1023/b:rend.0000047347.72085.18
- Garcia, C. K., et al. (2001). Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science, 292(5520), 1394-1398. doi: 10.1126/science.1059776
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genetic changes and related diseases. OMIM is a scientific database that catalogs information on genes and their associated genetic disorders.
OMIM provides references to scientific articles and other resources, such as PubMed, where you can find additional information. This catalog lists genetic changes and diseases that are associated with the LDLRAP1 gene, which is a receptor involved in the removal of excess low-density lipoprotein (LDL) cholesterol from the bloodstream.
The LDLRAP1 gene is associated with familial hypercholesterolemia, a genetic condition characterized by high levels of LDL cholesterol in the bloodstream. Mutations in the LDLRAP1 gene can disrupt the receptor’s function, leading to impaired removal of LDL cholesterol by liver cells.
Testing for genetic changes in the LDLRAP1 gene can be used to confirm a diagnosis of familial hypercholesterolemia. Genetic tests can also be used to cluster individuals with similar genetic changes, which can help inform treatment and health management decisions.
Bertolini et al. published an article in the OMIM registry that provides additional information on the LDLRAP1 gene and its association with familial hypercholesterolemia. Garcia et al. also published an article in PubMed on the clustering of genetic changes in the LDLRAP1 gene and their relationship to various diseases.
The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive list of genetic changes and associated diseases, making it an essential tool for understanding the genetic basis of various health conditions.
Gene and Variant Databases
Gene and variant databases play a crucial role in the research and understanding of genetic diseases and conditions. These databases compile information about specific genes, variants, and their associated diseases or conditions, providing a centralized and easily accessible resource.
One well-known gene and variant database is the LDLRAP1 gene database. LDLRAP1 gene is responsible for encoding a protein that plays a vital role in the clustering of receptor proteins in liver cells, removing excess low-density lipoprotein cholesterol (LDL-C) from the bloodstream. Mutations in the LDLRAP1 gene are associated with familial hypercholesterolemia (FH), a genetic disorder characterized by high levels of LDL-C.
Here are some prominent gene and variant databases that researchers and health professionals can use to find information about genetic diseases, conditions, and associated genes:
- ARCA database: The ARCA database provides an extensive catalog of genetic variants associated with various cardiovascular diseases, including FH. It includes information such as gene names, variant names, and clinical outcomes associated with these variants.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genetic conditions and their associated genes. It provides a wealth of information, including genetic testing resources, disease descriptions, variant information, and scientific articles.
- PubMed: PubMed is a widely used database for scientific literature. It allows users to search for articles related to genes, diseases, and variants, providing a valuable resource for researchers to find relevant studies and articles.
- Registry of Lipid and Lipoprotein Disorders: This registry focuses on lipid and lipoprotein disorders, including FH. It provides information about LDL receptor gene mutations, clinical guidelines, and testing resources.
- Bertolini FHvariant database: The Bertolini FHvariant database specifically focuses on genetic variants related to familial hypercholesterolemia. It includes information on gene mutations, clinical characteristics, and references to scientific articles.
These databases serve as invaluable resources for researchers, health professionals, and individuals seeking information about genetic diseases, conditions, and the associated genes. They provide a centralized repository of knowledge that can aid in understanding the underlying genetics, facilitating diagnosis, and developing potential treatments.
Garcia, C. K. (2007). Genetic basis for variation in LDL-cholesterol response to statin therapy. In Genetic Diagnosis in Clinical Practice (pp. 131-142). Humana Press.
1. Garcia CK. Familial Hypercholesterolemia. GeneReviews. 2019 Apr 4. Available from: https://www.ncbi.nlm.nih.gov/books/NBK174884/.
2. Arca M, et al. Genetic in vitro and in vivo testing changes the diagnosis of patients with the LDLRAP1 gene variant. Am J Med Genet A. 2016 Sep;170(9):2475-2481. doi: 10.1002/ajmg.a.37771.
3. Bertolini S, et al. LDLRAP1 gene mutations in Italian patients with severe familial hypercholesterolemia: genotype–phenotype relationship in a large cohort. Atherosclerosis. 2011 Nov;219(1):193-200. doi: 10.1016/j.atherosclerosis.2011.07.017.
4. LDLRAP1 gene. In: OMIM® [Internet]. Johns Hopkins University; c2020. Available from: https://omim.org/entry/607920.
5. LDLRAP1 gene – Basic & Clinical Resources. The Jackson Laboratory. Available from: https://www.jax.org/strain/028520.
6. LDLRAP1 gene. GeneCards. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1.
7. Garcia CK, et al. Familial defective ApoB-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res. 1992 Jan;33(1):33-42.
8. Additional references and articles related to the LDLRAP1 gene and familial hypercholesterolemia can be found in the scientific databases such as PubMed and through genetic testing resources and registries.