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The PKD1 gene, also known as polycystin-1, is the primary gene responsible for the development of polycystic kidney disease (PKD). PKD is a common genetic disorder that affects the kidneys, causing the growth of numerous fluid-filled cysts that can lead to kidney failure.

Polycystin-1 is a protein that plays a crucial role in the regulation of cell growth and differentiation in the kidneys. Mutations in the PKD1 gene can result in the production of an abnormally functioning polycystin-1 protein, which disrupts the normal development and function of kidney cells.

There are many genetic changes in the PKD1 gene that have been identified as being associated with the development of PKD. These changes can vary in severity and impact on the progression of the disease. Researchers have cataloged numerous variants of the PKD1 gene in databases such as PubMed, OMIM, and other available resources.

Testing for PKD1 gene mutations is commonly available through genetic testing laboratories and is an important tool in the diagnosis of PKD. Genetic testing can help identify individuals who have an increased risk of developing PKD and can assist in the management and treatment of the disease.

Further research is still being conducted to understand the complex nature of the PKD1 gene and its role in the development of polycystic kidney disease. The identification of additional genes and proteins related to PKD, such as polycystin-2, has expanded our knowledge and raised new questions about the underlying mechanisms of this disease.

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  • Zhou, J. (2009). Polycystins and primary cilia: primers for cell cycle progression. Annu Rev Physiol, 71, 83-113.
  • PKD1, polycystic kidney disease 1 (autosomal dominant). (2020). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/gene/PKD1
  • Polycystic Kidney Disease 1. (2020). Retrieved from GeneCards website: https://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD1

Genetic changes in the PKD1 gene can lead to various health conditions, particularly affecting the kidneys. These conditions are listed in scientific articles and databases such as PubMed, OMIM, and others.

One of the primary health conditions related to genetic changes in the PKD1 gene is polycystic kidney disease (PKD), which is characterized by the formation of multiple cysts in the kidneys. This disease is caused by abnormal changes in the PKD1 gene and its related protein, polycystin-1. Polycystic kidney disease is a common genetic disorder and can be further classified as autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD) depending on the inheritance pattern.

Polycystin-1 and polycystin-2 proteins, encoded by the PKD1 and PKD2 genes respectively, are essential for normal kidney function. Changes in these genes can lead to abnormal reactions in the cells, resulting in the formation of cysts in the kidneys. Research articles and scientific studies provide more information about the genetic changes, variant names, and testing methods available for PKD1 and PKD2 genes.

In addition to polycystic kidney disease, genetic changes in the PKD1 gene have also been linked to other health conditions. These include but are not limited to liver cysts, pancreatic cysts, cardiovascular diseases, and cerebral aneurysms. Further research and genetic testing can provide additional information on the association between PKD1 gene changes and these conditions.

If you are interested in learning more about PKD1 gene-related health conditions, it is recommended to refer to resources like the National Polycystic Kidney Disease Registry, scientific articles, and databases such as PubMed and OMIM. These sources contain references to primary research articles and provide comprehensive information on the genetic changes, proteins, diseases, and health conditions associated with the PKD1 gene.

Polycystic kidney disease

Polycystic kidney disease (PKD) is a genetic disorder that leads to the development of cysts in the kidneys. There are two known genes, PKD1 and PKD2, that are associated with the disease.

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PKD1 gene encodes for a protein called polycystin-1, while PKD2 gene encodes for another protein called polycystin-2. These proteins play important roles in the normal development and function of kidneys.

Polycystic kidney disease is primarily inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed to develop the disease. However, there can be variations in the severity and symptoms of PKD depending on the specific genetic changes.

Polycystic kidney disease has been listed in various scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These resources provide information on the genetic changes associated with the disease, names of related genes and proteins, and additional references for further research.

Studies and articles on polycystic kidney disease and the related genes and proteins are available in scientific journals and online databases. These resources provide information on the genetic testing, primary symptoms, reactions on cells, and other conditions and diseases associated with PKD.

In addition to the PKD1 and PKD2 genes, other genes and proteins have also been found to be associated with polycystic kidney disease. These include genes such as SEC63, HNF1B, and GANAB.

Testing for polycystic kidney disease can involve genetic testing to identify mutations in the PKD1 and PKD2 genes. This testing can help confirm a diagnosis and provide information on the risk of developing the disease. It can also be used for prenatal testing and for screening family members of individuals with PKD.

More information on polycystic kidney disease, including its symptoms, genetic changes, and available resources for testing, can be found in health registries, catalogs, and articles.

Other Names for This Gene

  • PKD1 gene
  • Polycystic kidney disease 1 gene
  • Polycystin-1 gene
  • PKD1
  • Pkd1

The PKD1 gene, also known as the polycystic kidney disease 1 gene or polycystin-1 gene, is the gene responsible for the development of polycystic kidney disease (PKD) in humans. PKD is a genetic disorder characterized by the formation of multiple cysts in the kidneys.

The PKD1 gene is involved in the production of a protein called polycystin-1. This protein is essential for normal kidney function and is found in cells lining the tubules of the kidneys. Mutations or changes in the PKD1 gene can result in the production of an abnormal polycystin-1 protein, leading to the development of PKD.

PKD1 is inherited in an autosomal dominant pattern, which means that individuals with only one copy of the PKD1 gene mutation will develop the disease. This gene variant is the most common cause of PKD, accounting for approximately 85% of all cases.

Genetic testing for PKD1 gene mutations is available and can confirm a diagnosis of PKD or assess the risk of developing the disease in individuals with a family history of PKD. Testing is usually performed using blood samples or buccal swabs and can detect known variants of the PKD1 gene.

Additional proteins related to the PKD1 gene, such as polycystin-2, have also been identified and are involved in the regulation of kidney cell functions. Changes in these proteins can contribute to the development of other polycystic kidney diseases and related conditions.

References to the PKD1 gene and related scientific articles can be found in various databases and resources, including OMIM, PubMed, and scientific journals. These references provide valuable information on the role of the PKD1 gene in health and disease.

In conclusion, the PKD1 gene, also known as polycystic kidney disease 1 gene or polycystin-1 gene, is a primary gene associated with polycystic kidney disease. Mutations in this gene lead to the production of an abnormal polycystin-1 protein, causing the formation of cysts in the kidneys. Genetic testing for PKD1 gene mutations is available, and additional proteins related to the PKD1 gene are also involved in kidney-related conditions.

Additional Information Resources

For additional information on the PKD1 gene and related topics, you can refer to the following resources:

  • Polycystic Kidney Disease (PKD) Registry: The PKD Registry is a registry for patients with PKD and provides information on the disease, genetic testing, and available resources.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the PKD1 gene and related conditions.
  • PubMed: PubMed is a database of scientific articles and provides access to research papers on PKD1 gene, polycystic kidney disease, and related topics.
  • Catalog of Variant of Variants (ClinVar): ClinVar is a public database that catalogs genetic variants and their association with diseases. It contains information on changes in the PKD1 gene and their implications.
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In addition to these resources, you may also find valuable information from articles and references listed in scientific journals.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool for identifying changes or abnormalities in the PKD1 gene. There are several tests available for testing the PKD1 gene, which is associated with the development of polycystic kidney disease.

In the Genetic Testing Registry, the following tests are listed:

  • Variant analysis: This test examines specific changes or variants in the PKD1 gene that are known to be associated with polycystic kidney disease.
  • Common variant analysis: This test looks for common variants in the PKD1 gene that may increase the risk of developing polycystic kidney disease.
  • Protein analysis: This test analyzes the protein products of the PKD1 gene to determine if they are functioning correctly.
  • Genetic panel testing: This test examines multiple genes, including the PKD1 gene, to identify genetic changes or variants that may be associated with polycystic kidney disease or other related conditions.

These tests provide valuable information about the PKD1 gene and can help in the diagnosis and management of polycystic kidney disease and related conditions.

For more information on these tests and their reactions, scientific publications, and additional resources, you can refer to the Genetic Testing Registry, PubMed, OMIM, and other genetic databases that catalog information on genetic testing and diseases related to PKD1 and other genes.

It is important to consult with a healthcare professional or genetic counselor before undergoing genetic testing to understand the implications of the results and to discuss any potential health or ethical concerns.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on the PKD1 gene and its role in polycystic kidney disease. PubMed is a database that hosts a vast collection of primary scientific publications that are related to various health conditions, diseases, and genes. This resource catalog is widely used by researchers, scientists, and healthcare professionals to access up-to-date information on genes, diseases, and related proteins.

The PKD1 gene is responsible for encoding the protein polycystin-1, which is involved in maintaining the health and function of kidneys. Mutations in the PKD1 gene result in the production of an abnormally functioning polycystin-1 protein, leading to the development of polycystic kidney disease. This genetic condition is characterized by the formation of numerous fluid-filled cysts in the kidneys, which can impair their normal function and lead to various complications.

PubMed contains scientific articles that discuss the various changes and reactions that occur in kidney cells due to the faulty polycystin-1 protein. These articles provide insights into the underlying mechanisms of polycystic kidney disease and contribute to the development of diagnostic tests and treatment strategies for this condition.

Scientific articles listed on PubMed may also provide additional information about other genes and proteins related to polycystic kidney disease. For example, the polycystin-2 protein, encoded by the PKD2 gene, is another key player in this disease. The interaction between polycystin-1 and polycystin-2 is crucial for maintaining kidney health.

Researchers and healthcare professionals can search PubMed using keywords such as “PKD1 gene,” “polycystic kidney disease,” or “polycystin-1” to find relevant scientific articles on this topic. PubMed provides various resources, including abstracts, full-text articles, and references from scientific journals, allowing users to access comprehensive information.

In addition to PubMed, there are other databases and resources available for genetic testing, such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic conditions, including polycystic kidney disease, and the associated genes and variants.

To stay up-to-date with the latest scientific advancements in the field of polycystic kidney disease and the PKD1 gene, researchers and healthcare professionals can subscribe to scientific journals or sign up for email alerts to receive notifications about newly published articles. This ensures access to the most recent research findings and facilitates further exploration of this complex genetic condition.

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Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that catalogs genes and diseases with a focus on genetic disorders. It provides valuable information on the genetic changes, associated diseases, and conditions caused by these changes.

OMIM offers a wide range of resources, including scientific articles, references, and genetic testing information. The database includes genes related to various diseases, one of them being polycystic kidney disease (PKD1 gene).

Polycystic kidney disease is a common genetic disorder characterized by abnormally large, fluid-filled cysts in the kidneys. Changes in the PKD1 gene, which codes for the protein polycystin-1, can lead to the development of this disease. Another gene associated with this condition is polycystin-2, coded by the PKD2 gene.

The OMIM catalog provides information on PKD1 and PKD2 genes, including their variant names and associated diseases. The database also lists additional genetic changes related to polycystic kidney disease.

For individuals interested in genetic testing for polycystic kidney disease or other related conditions, OMIM offers a registry of available tests. This registry provides information on the testing laboratories, testing methods, and available resources for further information.

OMIM references various primary and secondary sources, including PubMed, for the articles and publications listed in the catalog. Users can access the relevant scientific literature for detailed information on polycystic kidney disease and its associated genes.

In summary, OMIM serves as a valuable catalog of genes and diseases, including the PKD1 and PKD2 genes related to polycystic kidney disease. It provides information on genetic changes, associated diseases, testing resources, and references to scientific articles. It is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources for scientists, researchers, and clinicians studying genetic diseases. These databases provide information on genes and variants associated with specific conditions, such as the PKD1 gene and its related variants in the context of polycystic kidney disease (PKD).

One of the most common genes associated with PKD is the PKD1 gene, which encodes the polycystin-1 protein. This protein plays a crucial role in the function of kidney cells and any changes or mutations in the PKD1 gene can lead to the development of PKD.

Several databases are available where scientists and clinicians can access information on the PKD1 gene. These databases list the names and references of scientific articles and other resources related to the gene and its variants. Some commonly used databases for gene and variant information include PubMed, OMIM, and the PKD1 gene registry.

The PubMed database is a comprehensive catalog of scientific articles and references for various genes and diseases, including the PKD1 gene. Researchers can search for specific articles or browse through the available literature to find relevant information on genetic testing, changes in the PKD1 gene, and related conditions.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic diseases. It provides detailed descriptions of genes, genetic conditions, and associated variants. The OMIM database contains information on the PKD1 gene and its relationship to PKD, including the specific changes or variants that have been identified in patients with the disease.

In addition to these general databases, there are also specific databases and registries dedicated to PKD and related genes. These resources focus primarily on PKD1 and other genes involved in polycystic kidney diseases. The PKD1 gene registry, for example, collects and provides information on the variants identified in the PKD1 gene, as well as related protein changes and their effects on health.

By utilizing these gene and variant databases, researchers and clinicians can access up-to-date information on the PKD1 gene and its variants. This knowledge is essential for understanding the genetic basis of polycystic kidney disease and developing tests, treatments, and therapies for affected individuals.

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