The APRT gene, also known as Adenine Phosphoribosyltransferase gene, is a scientific term that refers to a specific gene responsible for the production of the APRT enzyme. The APRT enzyme plays a crucial role in the purine salvage pathway, which is responsible for recycling purines in the body.

Changes or mutations in the APRT gene can lead to APRT deficiency, a rare genetic disorder that affects the kidneys and causes the accumulation of adenine. This condition can result in the formation of kidney stones and other kidney-related problems.

The APRT gene is listed in various genetic databases, including OMIM and the APRT Genetic Deficiency Registry, as well as cited in scientific articles and references. The gene has been studied extensively, and several variants and mutations have been identified.

Testing for APRT deficiency involves analyzing the APRT gene for any genetic abnormalities or mutations. This can be done through genetic tests and additional laboratory tests to assess the levels of adenine in the body. These tests can help diagnose affected individuals and guide appropriate management and treatment options.

Moreover, resources like PubMed and other related databases provide a wealth of information on the APRT gene, its genetic variations, and its association with different diseases and conditions. These resources serve as valuable references for researchers and healthcare professionals seeking to understand and manage APRT deficiency.

The APRT gene provides instructions for making the enzyme adenine phosphoribosyltransferase (APRT), which is involved in the breakdown of purines. Purines are found in many foods and are also produced by the body as part of normal cellular processes.

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Genetic changes in the APRT gene can lead to a deficiency of the APRT enzyme. This deficiency can result in an accumulation of a substance called 2,8-dihydroxyadenine (DHA) in the body. DHA crystalizes and can form stones in the urinary tract, leading to a condition called APRT deficiency.

APRT deficiency is a rare genetic disorder that can cause kidney stones, chronic kidney disease, and other kidney-related problems. Individuals with APRT deficiency may experience recurring kidney stones and may also develop kidney damage over time. Other symptoms of the condition can include blood in the urine, urinary tract infections, and abdominal pain.

Health conditions related to genetic changes in the APRT gene can be diagnosed through genetic testing. Genetic testing can identify specific variants or mutations in the APRT gene that are associated with APRT deficiency. Genetic testing can also be used to identify other genetic changes that may be related to kidney diseases or other health conditions.

Resources such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles listed on PubMed provide additional information on the APRT gene, its associated genetic changes, and related health conditions. These resources can be used to further explore the genetic basis and clinical features of APRT deficiency and other genetic diseases.

In addition to genetic testing and scientific resources, there are also registries and catalogs of genetic tests available for APRT gene testing and other genetic conditions. These resources provide information on the availability and accuracy of different genetic tests for diagnosing health conditions related to genetic changes.

In conclusion, genetic changes in the APRT gene can result in APRT deficiency, a rare genetic disorder that can lead to kidney stones and kidney damage. Genetic testing and scientific resources such as OMIM and PubMed provide valuable information on the genetic basis and clinical features of APRT deficiency and other related health conditions.

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Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency is a genetic condition caused by mutations in the APRT gene. This gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT).

People with adenine phosphoribosyltransferase deficiency have a mutation in the APRT gene that affects the activity of the APRT enzyme. This enzyme is involved in a process called purine metabolism, which helps the body recycle purine molecules. Purines are components of DNA, RNA, and ATP (the molecule that provides energy for cellular processes).

Deficiency in adenine phosphoribosyltransferase can lead to a buildup of adenine, a purine molecule, in the body. This can result in the formation of crystals of a substance called 2,8-dihydroxyadenine (2,8-DHA). These crystals can accumulate in the kidneys and urinary tract, leading to kidney stones and other kidney-related problems.

  • Adenine phosphoribosyltransferase deficiency is listed under various names in different databases and scientific articles, including APRT deficiency, APRT deficiency type I, APRT deficiency variant, and adenine phosphoribosyltransferase deficiency type I.
  • Information about this condition, including genetic changes and related genes, can be found in the OMIM database under the entry “Adenine phosphoribosyltransferase deficiency.” The GeneReview article on Adenine Phosphoribosyltransferase Deficiency is another valuable resource for additional information.
  • Several other databases and resources provide information on Adenine phosphoribosyltransferase deficiency, such as PubMed, Genetic Testing Registry (GTR), and Catalog of Genes and Diseases (mimic)

Testing for Adenine phosphoribosyltransferase deficiency can be done through genetic testing to identify mutations in the APRT gene. This can help with diagnosis and determining the risk of developing kidney stones and other related conditions.

For more scientific articles and information on Adenine phosphoribosyltransferase deficiency, you can search PubMed using relevant keywords.

Other Names for This Gene

The APRT gene, also known as the adenine phosphoribosyltransferase gene, is associated with APRT deficiency, a genetic condition characterized by mutations in this gene. APRT deficiency is caused by changes in the APRT gene, which leads to a deficiency of the APRT enzyme.

The APRT gene is also sometimes referred to as APRTP, APRTJ, HPRT3, Nephrolithiasis, 2, Adenine phosphoribosyltransferase deficiency, and NPHL2, among others. These different names reflect various aspects of the gene’s function, its associated diseases and conditions, and its listing in different genetic databases and resources.

When testing for APRT deficiency or mutations in the APRT gene, healthcare providers may refer to it by any of these names to ensure accurate and comprehensive testing. Information on this gene can be found in scientific databases such as OMIM, PubMed, and the Genetic Testing Registry.

Additional gene information, related articles, and resources on the APRT gene can be found on various online platforms and scientific databases, including OMIM, PubMed, and the Genetic Testing Registry. These resources provide comprehensive information on the affected diseases and conditions, genetic changes in the APRT gene, and available tests and treatments.

Other Names for the APRT Gene
Name Description
APRT Adenine phosphoribosyltransferase
APRTP Adenine phosphoribosyltransferase, pseudogene
APRTJ Adenine phosphoribosyltransferase, Japanese type
HPRT3 Hypoxanthine phosphoribosyltransferase 3
Nephrolithiasis, 2 Genetic condition characterized by kidney stones
Adenine phosphoribosyltransferase deficiency Condition caused by mutations in the APRT gene
NPHL2 Nephrolithiasis type 2

Additional Information Resources

Here are some additional resources that provide information on genetic changes in the APRT gene, related diseases, and testing:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic variants and their associated diseases. It includes scientific articles, clinical descriptions, and references related to APRT deficiency.
  • PubMed: PubMed is a database of scientific articles, including genetics and related fields. It contains a wide range of articles on APRT gene mutations, testing, and other conditions affected by APRT deficiency.
  • Genetic Testing Registry (GTR): GTR is a database maintained by the National Institutes of Health (NIH) that provides information on genetic tests. It includes information on genetic tests for APRT gene mutations and related conditions.
  • Nephrolithiasis Gene Catalog (NCG): NCG is a database that catalogs genes related to nephrolithiasis (formation of kidney stones). It includes information on genes such as APRT and provides names, descriptions, and genetic information about these genes.
  • Health-Related Websites: There are various health-related websites that provide information on APRT deficiency and related conditions. These websites may include information on symptoms, diagnosis, treatment options, and support resources for individuals and families affected by APRT deficiency.
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These resources can be useful for finding additional information, scientific articles, and references related to the APRT gene, genetic mutations, and conditions associated with APRT deficiency. They can assist healthcare professionals, researchers, and individuals seeking more information about this genetic condition.

For more specific information on variant interpretation, genetic testing, and counseling, it is recommended to consult with a genetics professional or a healthcare provider familiar with genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) serves as a catalog of genetic tests and related resources. It provides names, descriptions, and other information for tests that have been registered with the GTR. These tests may include genetic changes associated with the APRT gene and its related disorders.

The APRT gene, also known as the adenine phosphoribosyltransferase gene, is responsible for producing an enzyme called APRT. Mutations in this gene can lead to APRT deficiency, which is a rare genetic condition affecting the purine metabolic pathway. This deficiency can result in the formation of kidney stones and other kidney-related health conditions.

The GTR contains a comprehensive list of tests that can identify mutations in the APRT gene and assess the risk of APRT deficiency. These tests are conducted by various laboratories and can provide valuable insights into an individual’s genetic makeup.

The GTR provides additional resources for each listed test. These resources may include references to scientific articles from PubMed and OMIM, as well as information on other genetic databases and health conditions associated with the APRT gene.

Through the GTR, healthcare professionals and individuals can access a wide range of information on genetic testing for APRT deficiency and related conditions. This information can aid in the diagnosis and management of affected individuals, as well as contribute to ongoing research in the field of nephrology.

Examples of Tests Listed in the GTR
Test Name Laboratory Test Type
APRT gene sequencing Lab A Genetic sequencing
APRT enzyme activity assay Lab B Enzyme activity assay
APRT gene variant analysis Lab C Genetic variant analysis

These examples demonstrate the diverse range of tests available in the GTR for APRT gene-related conditions. The GTR serves as a valuable resource for healthcare professionals and individuals seeking information on genetic testing for APRT deficiency.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of health and genetics. It provides a wealth of information on various topics, including the APRT gene and related conditions. Here are some of the scientific articles available on PubMed:

  • APRT deficiency: This article discusses the APRT gene and its role in causing adenine phosphoribosyltransferase (APRT) deficiency. It explores the genetic changes and mutations that can lead to this condition, as well as the affected enzyme and purine metabolism.
  • Genetic testing: This article focuses on the importance of genetic testing for APRT deficiency and related conditions. It highlights the different testing methods available and the significance of early detection.
  • APRT gene mutations: This study analyzes specific mutations in the APRT gene and their association with APRT deficiency. It provides valuable insights into the genetic basis of the condition and its implications for affected individuals.
  • OMIM database: This article highlights the APRT gene in the Online Mendelian Inheritance in Man (OMIM) database. It lists the genetic changes and associated diseases linked to the APRT gene.
  • APRTJ registry: This registry-based study examines the prevalence of APRT deficiency in a specific population. It provides valuable epidemiological data and information on the clinical presentation and management of the condition.

In addition to these specific articles, PubMed offers a wide range of resources and references related to APRT deficiency and other genetic diseases. It is an invaluable tool for researchers, clinicians, and individuals seeking information on genetic conditions.

See also  Unverricht-Lundborg disease

References:

  1. PubMed – https://pubmed.ncbi.nlm.nih.gov/
  2. OMIM – https://www.omim.org/

Catalog of Genes and Diseases from OMIM

  • The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic conditions, gene mutations, and related articles published on PubMed.

  • It provides a registry of genes and diseases, listing their names, genetic changes, and additional information such as enzyme deficiency and related conditions.

  • One of the genes listed in the catalog is the APRT gene, which is responsible for adenine phosphoribosyltransferase (APRT) deficiency.

  • APRT deficiency is a genetic condition that affects the kidneys and urinary tract. It can lead to the formation of kidney stones and other related health problems.

  • The catalog provides a wealth of resources for genetic testing, including information on available tests, variant names, and scientific articles on the subject.

  • Researchers and healthcare professionals can find relevant articles on PubMed, which is a database of scientific publications.

  • In addition to APRT deficiency, the catalog includes information on many other genetic conditions and genes, making it a valuable resource for the scientific community.

  • The catalog serves as a centralized source of information, allowing researchers to access up-to-date data on genes, diseases, and their associated conditions.

  • By using the catalog, researchers can stay informed about the latest discoveries and advancements in the field of genetics and genomics.

Gene and Variant Databases

Gene and variant databases are invaluable resources for researching the APRT gene and its related mutations. These databases provide information on the genetic changes and variations that can lead to adenine phosphoribosyltransferase (APRT) deficiency, as well as other genetic conditions.

One of the most well-known gene databases is PubMed, which is a scientific database that provides references to articles on the APRT gene and its variants. It also includes information on how these genetic changes can affect health and lead to diseases such as nephrolithiasis.

In addition to PubMed, there are other databases that specifically catalog genetic resources. One such database is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders, including APRT deficiency. OMIM includes descriptions of the gene, its variants, and the associated diseases.

Another important database is the Genetic Testing Registry (GTR), which includes information on genetic tests available for APRT deficiency and other genetic conditions. This resource provides details on the testing methods used, as well as additional information on the genes and variants being tested.

These databases can be used to look up specific variants of the APRT gene, such as the aprtJ variant, and find information on the effects of these variants on the enzyme. They also provide references to scientific articles and other resources for further reading.

List of Gene and Variant Databases
Database Name Description
PubMed A scientific database with references to articles on the APRT gene and its variants
OMIM An online catalog of genetic disorders, including APRT deficiency
Genetic Testing Registry (GTR) Provides information on available genetic tests for APRT deficiency and other conditions

These gene and variant databases are essential tools for researchers and healthcare professionals studying APRT deficiency and related conditions. They provide a wealth of information on the gene, its variants, and the diseases they can cause. By using these resources, scientists can better understand the underlying mechanisms of the disease and develop effective diagnostic and treatment strategies.

References