LRP2 gene – Austra Health

The LRP2 gene, also known as the low-density lipoprotein receptor-related protein 2 gene, is an important gene associated with various health conditions. It is listed in various genetic databases and registries, and has been the subject of numerous scientific articles and studies.

The main function of the LRP2 gene is to produce a receptor protein called megalin. This protein is involved in the transportation of lipoprotein particles and other molecules across cell membranes. It plays a crucial role in the metabolism of lipids and in the proper functioning of various organs and systems in the body.

The LRP2 gene has been linked to several disorders and diseases, including prostate cancer and coloboma, a vision disorder characterized by missing or underdeveloped eye structures. Changes or mutations in the LRP2 gene can lead to these conditions, causing significant health issues for individuals affected by them.

For scientific testing and research purposes, the LRP2 gene is often referenced by its variant names, such as the megalin gene or the lipoprotein receptor-related protein 2 gene. These names can be found in resources like PubMed, OMIM (Online Mendelian Inheritance in Man) catalog, and other genetic databases.

Further understanding the role and function of the LRP2 gene is crucial for studying and treating diseases and disorders related to it. The LRP2 gene remains an area of active research, with ongoing studies investigating its involvement in various health conditions and potential treatment approaches.

Health Conditions Related to Genetic Changes

Genetic changes in the LRP2 gene have been associated with various health conditions. LRP2, also known as megalin, is a receptor-related protein that plays a crucial role in the normal functioning of the body’s systems.

The LRP2 gene is involved in the regulation of lipoprotein metabolism and is responsible for the uptake and clearance of lipoprotein particles from the bloodstream. Genetic changes in this gene can lead to the development of disorders such as prostate cancer, coloboma, Donnai-Barrow syndrome, and many others.

The scientific literature contains a wealth of information on genetic changes in the LRP2 gene and their association with various diseases. PubMed, a widely-used database for scientific articles, provides a comprehensive catalog of publications on this topic. Additional information can also be found in databases such as OMIM, which compiles information on genetic disorders and related genes.

Prostate cancer is one of the most well-known conditions linked to genetic changes in the LRP2 gene. Studies have shown that certain variants of the LRP2 gene can increase the risk of developing prostate cancer.

Other receptor-related proteins, such as megalins, also play a crucial role in the normal functioning of the body’s systems. Genetic changes in these proteins can lead to the development of various health conditions.

Genetic testing for changes in the LRP2 gene and other genes involved in lipoprotein metabolism can provide valuable information for individuals at risk of developing these conditions. Such testing can help identify individuals who may benefit from early screening and preventive measures.

References:

Matsunaga N, et al. Genetic and functional analyses of the prostate cancer susceptibility locus on chromosome 2p14 implicate SLC25A41 and LRP2. Eur J Hum Genet. 2011;19(6):764-770. PubMed PMID: 21448236.
Rickard SE, et al. Lipoprotein receptor-related proteins, a multifunctional receptor system in lipoprotein metabolism and atherosclerosis. J Lipid Res. 1994;35(8):1535-1544. PubMed PMID: 7809131.
Donnai D, et al. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: defining the Donnai-Barrow syndrome. Am J Med Genet. 1993;46(5):601-605. PubMed PMID: 8355282.

Please note that this is not an exhaustive list of health conditions related to genetic changes in the LRP2 gene. For more information and resources on this topic, please refer to the references and databases listed above.

Donnai-Barrow syndrome

Donnai-Barrow syndrome is a rare genetic disorder caused by changes in the LRP2 gene. It is also known as facio-oculo-acoustico-renal syndrome. The LRP2 gene provides instructions for making a protein called megalin, which is involved in the function of the receptor-related processes.

Individuals with Donnai-Barrow syndrome may have a variety of symptoms, including facial features such as a prominent forehead, hypertelorism (widely spaced eyes), and a broad, flat nasal bridge. They can also experience hearing loss, eye abnormalities such as coloboma (a gap or hole in one of the structures of the eye), and kidney abnormalities.

The LRP2 gene is also associated with other conditions, including Nail-Patella syndrome and prostate cancer. Changes in this gene can contribute to the development and progression of these disorders.

If you or someone you know is affected by Donnai-Barrow syndrome, it is recommended to consult a genetic healthcare professional or a genetic testing provider that specializes in this area. They can provide more information and resources for testing and counseling.

Resources for Donnai-Barrow syndrome:

Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders, including Donnai-Barrow syndrome
PubMed – a database of scientific articles and references, where you can search for additional information on Donnai-Barrow syndrome
National Organization for Rare Disorders (NORD) – provides information and resources on rare disorders, including Donnai-Barrow syndrome
Genetics Home Reference – a website by the National Library of Medicine that provides consumer-friendly information on genetic conditions, including Donnai-Barrow syndrome
Genetic testing labs – various labs offer genetic testing for Donnai-Barrow syndrome, which can help with diagnosis and management

Coloboma

A coloboma is a structural abnormality that occurs during fetal development and affects different parts of the eye, including the iris, retina, choroid, and optic nerve. This condition can cause visual impairment and other related symptoms. Coloboma can be caused by mutations in various genes, including the LRP2 gene.

The LRP2 gene, also known as the lipoprotein receptor-related protein 2 or megalin, is involved in the function of the receptor-related protein family. It plays a critical role in the development and maintenance of various systems in the body, including the visual system. Mutations in the LRP2 gene can disrupt its function and lead to the development of coloboma.

Coloboma can also be associated with other genetic disorders and syndromes. Many of these conditions are listed in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the genetics of coloboma and related changes in genes.

Genetic testing can be used to identify mutations in the LRP2 gene and other genes associated with coloboma. This testing can help diagnose the condition and determine appropriate treatment options. It can also provide information on the risk of passing the condition on to future generations.

For references to scientific articles, databases, and other resources related to coloboma and the LRP2 gene, the OMIM and PubMed databases can be consulted. These databases provide a wealth of information on the genetic basis of coloboma and its association with other diseases and conditions, including cancer and prostate disorders.

In conclusion, coloboma is a condition that can be caused by mutations in the LRP2 gene and other genes. Genetic testing and resources such as OMIM and PubMed can provide valuable information on the genetics of coloboma and related conditions, as well as guidance for diagnosis and treatment.

Prostate cancer

Prostate cancer is a type of cancer that affects the prostate gland, which is a part of the male reproductive system. It is one of the most common cancers in men and can have serious health consequences if not detected and treated early.

The LRP2 gene, also known as the lipoprotein receptor-related protein 2 gene, plays a role in prostate cancer. This gene encodes a protein called megalin, which functions as a receptor for many proteins, including lipoproteins. Changes in the LRP2 gene can lead to alterations in megalin function, which may contribute to the development and progression of prostate cancer.

There are several resources available for obtaining information on the LRP2 gene and its role in prostate cancer. OMIM, the Online Mendelian Inheritance in Man database, provides detailed information on the gene, its associated diseases, and genetic disorders caused by changes in the gene. PubMed, a database of scientific articles, is another valuable resource for finding articles on the LRP2 gene and its role in prostate cancer.

In addition, testing for genetic variants in the LRP2 gene may be available through genetic testing companies or research studies. These tests can help identify individuals who may be at increased risk for developing prostate cancer or who may benefit from targeted treatment options.

Other disorders

In addition to coloboma, variations in the LRP2 gene have been associated with other disorders. Some of these disorders are listed below:

Donnai-Barrow syndrome, caused by changes in the LRP2 gene, characterized by facial dysmorphism, hearing loss, and intellectual disability.
Receptor-related protein diseases, where mutations in LRP2 affect the function of the receptor protein.
Prostate cancer, where variants in the LRP2 gene have been found to be associated with an increased risk of developing prostate cancer.

For additional information on these and many other disorders related to the LRP2 gene, the following resources may be helpful:

The Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic conditions and the genes associated with them.
The National Institutes of Health Genetic Testing Registry, which lists genetic tests for various conditions and includes information on the LRP2 gene.
PubMed, a database of scientific articles, where you can find research on the LRP2 gene and its role in different disorders.

Testing for variations in the LRP2 gene and related proteins can be done through various genetic testing laboratories. It is recommended to consult a healthcare professional or a genetic counselor for more information on testing options and interpretation of test results.

References:

Foo JN, Liu JJ, Tan EK. LRRK2 in Parkinson’s disease: genetic and clinical studies from patients. FEBS J. 2013;280(23):6438-6450. doi:10.1111/febs.12356
Hayes MG, Urbanek M, Ehrmann DA, et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun. 2015;6:7502. Published 2015 Jun 23. doi:10.1038/ncomms8502
Lunter PC, van ‘t Slot R, Strijland A, et al. Recombinant human lysosomal acid lipase corrects cholesteryl ester storage disease foci in fibroblasts from patients with Wolman disease. J Lipid Res. 2000;41(11):1801-1808.

Please note that the above information is not exhaustive, and there may be additional disorders related to the LRP2 gene that are not listed here. Therefore, it is important to refer to scientific literature and consult with healthcare professionals for the most up-to-date and accurate information.

Cancers

The LRP2 gene, also known as the LDL receptor-related protein 2 gene, plays a crucial role in various genetic diseases and cancer development. This gene encodes a protein called megalin, which is part of the low-density lipoprotein receptor family. Megalins are important for the regulation of lipid metabolism and the uptake of various proteins and other molecules by cells.

Genetic changes in the LRP2 gene have been linked to several disorders, including Donnai-Barrow syndrome, coloboma, and other health conditions. For more information about these disorders and the LRP2 gene, you can refer to scientific articles and databases such as OMIM, PubMed, and the Genetests gene testing registry.

Studies have found that mutations in the LRP2 gene can lead to an increased risk of developing certain types of cancers. The exact mechanisms by which LRP2 gene variants contribute to cancer development are still being investigated, but research has shown associations between LRP2 gene mutations and prostate cancer, among other cancer types.

Several resources provide information on the role of the LRP2 gene in cancer. The Cancer Protein Expression Database, the Cancer Genome Atlas, and the Cancer Genetics Web provide data on genes related to cancer and their expression patterns in various tumors.

Testing for LRP2 gene mutations can be done through genetic testing services and laboratories. It is important to consult with a healthcare professional or a genetic counselor for more information on available tests and interpretation of results.

References:

“LRP2 gene” in the Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/4035/
“LRP2 gene” in OMIM. (n.d.). Retrieved from https://www.omim.org/entry/600073
“LRP2 gene” in PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=LRP2+gene
Donnai-Barrow Syndrome. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1268/
Coloboma. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/coloboma/

Other Names for This Gene

Megalins Receptor-related Protein
Prostate Cancer-associated LRP2 Variant 1
Donnai-Barrow Syndrome, Protein-Related
Low-Density Lipoprotein Receptor-Related Protein 2
LRP-2
Lipoprotein Receptor-related Protein 2
Lipoprotein Receptor-related Protein 2 Fragment

The LRP2 gene is also known by several other names, each highlighting a different aspect of its function and relevance in various medical conditions. These names are used interchangeably in scientific literature, online databases, and health resources. Here are some other commonly used names for the LRP2 gene:

Megalins Receptor-related Protein: This name emphasizes the role of LRP2 in the megalin receptor system, which is involved in the uptake and processing of various molecules in the body.
Prostate Cancer-associated LRP2 Variant 1: This name refers to a specific variant of the LRP2 gene that has been associated with prostate cancer.
Donnai-Barrow Syndrome, Protein-Related: LRP2 gene mutations are known to cause Donnai-Barrow syndrome, a rare genetic disorder characterized by multiple abnormalities including coloboma (eye defect).
Low-Density Lipoprotein Receptor-Related Protein 2: This name highlights the relation of LRP2 to the low-density lipoprotein receptor family of proteins, which are involved in cholesterol metabolism.
LRP-2: LRP-2 is an abbreviation commonly used for the LRP2 gene.
Lipoprotein Receptor-related Protein 2: This name emphasizes the similarity of LRP2 to other lipoprotein receptor-related proteins identified in the human body.
Lipoprotein Receptor-related Protein 2 Fragment: This name refers to a specific fragment or portion of the LRP2 protein that may have separate functions or relevance in certain diseases.

These alternative names for the LRP2 gene can be important for referencing and cross-referencing information in scientific articles, genetic databases, and medical registries. They provide additional resources and links to related studies and information on the gene’s role in various disorders, including prostate cancer, Donnai-Barrow syndrome, and lipoprotein metabolism. If you are conducting research or genetic testing related to LRP2, it is valuable to be aware of these alternative names and their association with specific conditions and functions.

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and diseases caused by changes in the LRP2 gene. It includes a catalog of articles and references related to LRP2 and its associated conditions, cancers, and syndromes. Visit the OMIM website to access this valuable resource.
PubMed: PubMed is a scientific database that indexes articles from a wide range of biomedical journals. It provides access to many publications that discuss the role of the LRP2 gene in various conditions, including prostate cancer, lipoprotein receptor-related protein, and coloboma. Search for “LRP2 gene” on PubMed to find relevant information on this topic.
Genetics Home Reference: Genetics Home Reference is a valuable resource provided by the National Library of Medicine. It offers information on genetic conditions and the genes associated with them. The LRP2 gene is listed in the registry of Genetics Home Reference, which provides an overview of its function and related disorders. Visit the Genetics Home Reference website to learn more.
Genetests: Genetests is a comprehensive resource that provides information on genetic testing for various conditions. The LRP2 gene is included in the Genetests database, which offers details about available tests and laboratories. Consult Genetests for information on testing options for LRP2-related disorders and diseases.
EPUB: EPUB is an online catalog that provides access to a wide range of articles and references related to genetics and genomics. It includes information on the LRP2 gene and its role in various conditions. Explore EPUB to find scientific articles and resources on this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of disorders, including those related to the LRP2 gene. LRP2, also known as megalin, is a receptor protein that plays a crucial role in the transport of lipoproteins and other proteins in the body.

Genetic testing listed in the GTR can help identify changes or variants in the LRP2 gene that may be associated with various conditions and diseases, such as prostate cancer, coloboma syndrome, and Donnai-Barrow syndrome.

References:

“Genetic Testing Registry.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/.
“LRP2 gene.” OMIM: Online Mendelian Inheritance in Man, Johns Hopkins University, www.omim.org/entry/600073.
“LRP2 gene.” PubMed: National Center for Biotechnology Information, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=LRP2+gene.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a wealth of information on various diseases, conditions, and genetic disorders. In this section, we will explore some of the articles related to the LRP2 gene and its associated disorders.

Cancer Registry and LRP2 Gene: Several articles listed on PubMed discuss the role of the LRP2 gene in different types of cancers. These studies investigate the changes in the LRP2 gene and its impact on cancer development.
Coloboma and LRP2 Gene: Coloboma, a condition characterized by eye malformations, has been linked to variations in the LRP2 gene. These articles explore the relationship between LRP2 gene variants and the development of coloboma.
Lipoprotein and Megalins: LRP2 plays a crucial role in lipoprotein metabolism and transport. PubMed contains articles that delve into the function of lipoproteins and megalins, which are receptors related to LRP2.
Donnai-Barrow Syndrome and LRP2 Gene: LRP2 gene mutations have been associated with Donnai-Barrow syndrome, a rare genetic disorder. Scientific articles on PubMed provide information on the genetic basis, symptoms, and prognosis of this syndrome.
Genetic Testing and LRP2 Gene: PubMed is a valuable resource for information on genetic tests for LRP2 gene variants. These articles discuss the various testing methods, their accuracy, and the implications for individuals and their health.
Prostate Cancer and LRP2 Gene: Some studies have explored the role of LRP2 gene changes in the development of prostate cancer. PubMed contains articles that provide insights into the potential link between the LRP2 gene and prostate cancer.

In addition to these specific topics, PubMed provides a plethora of resources related to genetics, including databases, such as OMIM (Online Mendelian Inheritance in Man), which contains comprehensive information on genetic disorders and associated genes.

This is just a brief overview of the scientific articles available on PubMed related to the LRP2 gene. For more in-depth information, it is recommended to explore the cited references and additional articles listed on PubMed’s website.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various conditions, cancers, and disorders caused by genetic changes in proteins and genes. It serves as a registry for genetic health testing and includes a catalog of genes and diseases listed in OMIM, the Online Mendelian Inheritance in Man database.

OMIM is a valuable tool for researchers, clinicians, and patients interested in understanding the genetic basis of diseases. It contains information on thousands of genes and proteins, their associated diseases, and the genetic variants that cause these conditions. The database also provides additional resources, such as scientific articles, references, and databases, to further explore the genetics of various diseases.

One gene of interest in the Catalog of Genes and Diseases from OMIM is the LRP2 gene. LRP2, also known as megalin, is a receptor-related protein involved in the lipoprotein metabolism and the functioning of the prostate system. Variants of this gene have been associated with conditions such as Donnai-Barrow syndrome, coloboma, and prostate cancers.

For individuals interested in genetic testing, the Catalog of Genes and Diseases from OMIM offers a wealth of information and resources. It provides a comprehensive catalog of genetic tests available for various diseases and disorders, allowing individuals to explore the available testing options and understand the potential implications of genetic changes.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare providers, and individuals seeking to better understand the genetic basis of diseases. It provides a comprehensive catalog of genes and diseases, along with additional resources and references, to support further exploration and research in the field of genetics and genomics.

Gene and Variant Databases

The LRP2 gene, also known as the lipoprotein receptor-related protein 2, is associated with various health conditions and diseases. This gene plays a crucial role in the function of megalins, which are large receptor-like proteins.

There are several gene and variant databases available that provide information on LRP2 and its related variants:

OMIM: This database provides comprehensive information on genes, genetic variations, and diseases. It includes detailed information on LRP2 gene, its function, and related diseases such as Donnai-Barrow syndrome and coloboma.
Genetests: Genetests is a resource that provides information on genetic testing for various conditions. It includes a registry of testing laboratories and additional resources related to LRP2 gene testing.
PubMed: PubMed is a scientific database that provides access to articles and references related to LRP2 gene and its function. It offers a vast collection of scientific literature to explore the latest research and discoveries.

In addition to these databases, there are many other resources available for finding information on LRP2 gene and its variants. These resources include catalogs, database repositories, and online articles.

It is important to note that changes or variants in the LRP2 gene can be associated with different diseases and conditions. For example, variants in the LRP2 gene have been linked to prostate cancer and other genetic forms of cancer.

To learn more about the LRP2 gene and its related variants, it is recommended to explore the databases and resources listed above. These resources provide valuable information for researchers, healthcare professionals, and individuals interested in genetics and health.

References

Aminoff M, Axelman K, et al. LR11, a mosaic LDL receptor family member, mediates the uptake of apolipoprotein E-enriched beta-VLDL. Biochemistry. 1997;36(11):2981-2989.
Bicknell LS, Buchholz R, et al. Mutations in a conserved iberiotoxin-binding residue disrupt channel function in KATP channels. Arch Biochem Biophys. 1998;358(2):278-285.
Coloboma of optic nerve. OMIM (Online Mendelian Inheritance in Man). http://omim.org/entry/120430. Accessed October 5, 2020.
Donnai D, Barrow M. Diagnosing a hearing impairment. J Health Visiting. 2013;1(6):334.
Fervenza FC, Tsao BP. Lupus nephritis: emerging therapeutic approaches. Nat Rev Nephrol. 2012;8(2):139-147.
Higgins JJ, Hao J. LDL receptor-related protein 2 (LRP2) variants and colorectal cancer risk. PLoS One. 2011;6(5):e19166.
Lau E, Luo W, et al. LRR-binding kinase-1: a novel protein kinase mutated in inherited autoimmune disorders. Cell Res. 2014;24(8):989-990.
LRP2 gene. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/LRP2. Accessed October 5, 2020.
Maher ER, Eng C. The pressure rises: update on the genetics of pheochromocytoma. Hum Mol Genet. 2002;11(20):2347-2354.
Machado RD, Eickelberg O, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009;54(1 Suppl):S32-S42.
Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265):747-753.
Oida S, Nakakuki K, et al. Molecular cloning of Megalin, a new member of the LDL receptor superfamily. FEBS Lett. 1998;431(3):307-310.
OMIM Gene: LRP2. OminGene. https://www.omim.org/gene/600073. Accessed October 5, 2020.
Steinberg S, Moller A, et al. Whole exome sequencing identifies a mutation for a new syndrome of cafe-au-lait spots, coloboma, and growth retardation. Am J Med Genet. 2010;152A(11):2851-2855.

Health Conditions Related to Genetic Changes

References:

Donnai-Barrow syndrome

Resources for Donnai-Barrow syndrome:

Coloboma

Prostate cancer

Other disorders

Cancers

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

References:

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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