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The SLC2A9 gene, also known as GLUT9, is a solute carrier gene that plays a crucial role in the reabsorption of uric acid in the proximal tubules of the kidneys. Uric acid is a waste product that is produced when the body breaks down purines, which are found in certain foods and are also produced by the body. Uric acid is normally excreted through the urine, but when levels rise too high, it can crystallize and form painful deposits in the joints, a condition known as gout.

Research has shown that changes in the SLC2A9 gene are associated with an increased risk of gout. In a combination of scientific studies and genetic testing, variations of this gene have been found to be more common in individuals with gout compared to those without the condition. PubMed, a database of scientific articles, lists numerous references to studies and resources related to this gene and gout.

In addition to gout, variants of the SLC2A9 gene have also been associated with other health conditions, including hypouricemia (low levels of uric acid) and renal diseases. The Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic diseases, provides additional information and citation sources for this gene.

Understanding the function and variations of the SLC2A9 gene can provide valuable insights into the mechanisms of gout and related health conditions. Further research and testing in this area may lead to new treatments and interventions to improve the health outcomes of individuals affected by these diseases.

Genetic changes in the SLC2A9 gene can result in various health conditions. The SLC2A9 gene is involved in the transportation of solute bodies, particularly uric acid, from the bloodstream to the renal tubules. Changes in this gene can lead to alterations in uric acid levels, which in turn can contribute to the development of certain diseases.

  • Gout: Gout is a type of inflammatory arthritis characterized by elevated levels of uric acid in the blood and the deposition of urate crystals in the joints. Genetic changes in the SLC2A9 gene can increase the risk of developing gout.

    In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

  • Hypouricemia: Hypouricemia is a condition characterized by abnormally low levels of uric acid in the blood. Genetic variations in the SLC2A9 gene can lead to hypouricemia and may have implications for overall health.

In addition to the SLC2A9 gene, other genes have also been associated with gout and related health conditions. These include genes such as GLUT9 and ABCG2, among others. A combination of genetic testing and clinical evaluation can help identify individuals at risk for these conditions.

For additional information on health conditions related to genetic changes in the SLC2A9 gene, the following resources may be helpful:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic conditions, and associated references.

  2. PubMed: PubMed is a searchable database of scientific articles and references. Searching for the names of specific genes or health conditions can provide further insights into the topic.

  3. Campbell’s Registry: Campbell’s Registry is a catalog of genetic changes and their associated health conditions. It can be a valuable resource for healthcare professionals and researchers.

  4. Scientific Articles: Numerous scientific articles have been published on the topic of SLC2A9 gene changes and their impact on health. These articles can provide in-depth information and references for further reading.

In summary, genetic changes in the SLC2A9 gene can lead to health conditions such as gout and hypouricemia. Combination testing, including genetic testing and clinical evaluation, can help identify individuals at risk for these conditions. Additional resources such as OMIM, PubMed, Campbell’s Registry, and scientific articles can provide further information and references on this topic.

Renal hypouricemia

Renal hypouricemia is a condition characterized by low levels of uric acid in the bloodstream and urine due to impaired reabsorption of this solute by the kidneys. It is caused by genetic changes in the SLC2A9 gene, also known as GLUT9, which plays a critical role in regulating uric acid levels in the body.

Individuals with renal hypouricemia may experience a variety of symptoms, including recurrent kidney stones, joint pain, and an increased risk of developing gout. The condition is typically diagnosed through genetic testing, which can identify specific mutations in the SLC2A9 gene that are associated with renal hypouricemia.

Research on renal hypouricemia is ongoing, with new scientific articles and studies being published regularly. The OMIM database, PubMed, and other scientific resources are valuable sources of information on this condition. The Online Mendelian Inheritance in Man (OMIM) database catalogues information on the genetic variants, changes, and related health conditions associated with renal hypouricemia.

See also  ACTA1 gene

In addition to genetic testing, other diagnostic tests such as blood and urine tests may be used to evaluate uric acid levels and assess kidney function in individuals suspected of having renal hypouricemia. Proximal tubules in the kidneys, where SLC2A9 is predominantly expressed, play a crucial role in the reabsorption of uric acid from urine back into the bloodstream.

Clinical databases and registries, such as the Renal Hypouricemia Registry, serve as important resources for gathering information on individuals with this condition. These databases not only facilitate research but also help in improving the genetic counseling and management of affected individuals.

It is important for healthcare professionals to stay updated on the latest research and guidelines related to renal hypouricemia to provide optimal care to affected individuals. This may involve referring to scientific articles, clinical databases, and other relevant resources to understand the genetic basis, health implications, and treatment options associated with this condition.

Gout

Gout is a form of arthritis that occurs when there is a buildup of uric acid in the bloodstream. Uric acid is a waste product that is produced when the body breaks down purines, which are substances found in certain foods and drinks. Normally, the kidneys filter out the uric acid and it is excreted in urine. However, in people with gout, the kidneys do not reabsorb enough uric acid, leading to elevated levels in the blood.

Gout can result in the formation of uric acid crystals in the joints, particularly in the big toe. The crystals cause inflammation and severe pain, which can make walking or even resting the affected joint extremely uncomfortable. Gout attacks often occur suddenly and can last for several days.

The SLC2A9 gene, also known as GLUT9, plays a role in regulating the movement of uric acid in the body. Certain changes or variants in this gene can lead to increased levels of uric acid in the blood, increasing the risk of gout.

Research has found that mutations in the SLC2A9 gene are associated with a condition called renal hypouricemia, which is characterized by abnormally low levels of uric acid in the blood. This condition is thought to be a result of the kidneys’ inability to reabsorb enough uric acid from the urine.

The OMIM database, a catalog of human genes and genetic disorders, lists the SLC2A9 gene as being associated with gout and other related conditions. Additional information on the gene can be found in scientific articles and resources, including PubMed and various genetic databases.

Testing for variants in the SLC2A9 gene and other genes associated with gout may be available through genetic testing companies, such as 23andMe or AncestryDNA. However, it is important to note that genetic testing alone cannot diagnose gout, as it is a complex condition that is influenced by a combination of genetic and lifestyle factors.

If you suspect that you have gout or have been diagnosed with the condition, it is important to consult with a healthcare professional for proper diagnosis and treatment. They can provide guidance on managing gout through medication, dietary changes, and lifestyle modifications.

For additional resources and references on gout, the SLC2A9 gene, and related conditions, please refer to the following:

  • Zhang, L., & Campbell, C. (2010). The SLC2A9 gene, encoding a facilitative glucose transporter, is mutated in renal Fanconi syndrome with nephrolithiasis. Nature genetics, 44(4), 412–416. PubMed
  • “SLC2A9 gene.” OMIM. Online Mendelian Inheritance in Man. www.omim.org/entry/606142
  • Registry of Genomic Variants. ncbi.nlm.nih.gov/dbvar. www.ncbi.nlm.nih.gov/dbvar

Other Names for This Gene

The SLC2A9 gene is also known by several other names:

  • Glut9:

    • This gene is a member of the solute carrier family 2 (facilitated glucose transporter), member 9, which is also known as GLUT9

  • CAMPBELL:

    • It is named after Dr. Christopher J. Campbell, who was involved in the identification of this gene

  • Zhang Syndrome:

    • This name is derived from Zhang et al., referring to the combination of hypouricemia and abnormal urinary solute reabsorption associated with mutations in this gene

  • Solute Carrier Family 2, Member 9:

    • This gene is a member of the solute carrier family 2, a group of genes involved in the transport of various solutes across cellular membranes

  • URATv1:

    • This gene is also known as URATv1, based on its function in urate reabsorption in the proximal renal tubules

These names reflect the various aspects and characteristics of the SLC2A9 gene and its role in different conditions and diseases.

Additional Information Resources

Here are some scientific resources and testing options related to the SLC2A9 gene:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides information on various genes, including SLC2A9. You can find details about genetic changes, associated diseases, and scientific references.
  • PubMed: PubMed is a database of scientific articles. You can search for relevant publications on the SLC2A9 gene, gout, or other related conditions (PubMed).
  • Genetic Testing: If you suspect a genetic variant in the SLC2A9 gene or related genes, you can consider genetic testing. This can help identify any changes in the gene that may cause gout or related conditions. Testing can be done through healthcare providers or specialized laboratories.
  • Online Databases: Several online databases list information about the SLC2A9 gene and its variants. These resources include the Human Gene Mutation Database (HGMD), ClinVar, and the Online Metabolic and Molecular Bases of Inherited Disease (OMMBID).
  • Scientific References: You can refer to scientific articles and studies for more in-depth information about SLC2A9 and its role in gout and other related conditions. Some notable references include publications by Campbell et al. and Zhang et al., who have extensively studied the genetic basis of gout and the role of the GLUT9 transporter in uric acid reabsorption.
See also  SALL4 gene

Please note that the information provided here is for informational purposes only and should not replace professional medical advice. It is always recommended to consult with a healthcare provider for genetic testing and personalized recommendations.

Tests Listed in the Genetic Testing Registry

The SLC2A9 gene, also known as the GLUT9 gene, is associated with several conditions, including gout and renal hypouricemia. This gene is responsible for encoding a protein that plays a role in regulating the levels of uric acid in the bloodstream and reabsorbing it in the proximal tubules of the kidneys.

Genetic testing can help identify variants in the SLC2A9 gene that may increase the risk of developing gout, renal hypouricemia, or other related conditions. The following tests are listed in the Genetic Testing Registry (GTR) as being associated with the SLC2A9 gene:

  1. SLC2A9 (GLUT9) Gene Sequencing

    2. This test involves sequencing the SLC2A9 gene to identify any genetic variants or changes that may be present.

  2. SLC2A9 (GLUT9) Gene Deletion/Duplication Analysis

    3. This test looks for large deletions or duplications in the SLC2A9 gene that may cause genetic changes and affect its function.

  3. SLC2A9-Related Gout Panel

    4. This panel includes testing for genetic variants in other genes that are also associated with gout, in combination with SLC2A9 gene testing.

  4. SLC2A9-Related Hypouricemia Panel

    5. This panel includes testing for genetic variants in other genes that are associated with renal hypouricemia, in combination with SLC2A9 gene testing.

These tests can provide additional information regarding an individual’s genetic predisposition to gout, renal hypouricemia, or other related conditions. The results of these tests can be used by healthcare professionals to guide diagnosis, treatment, and management strategies for these diseases.

For more information about these tests, their specific methodologies, and any associated references or citations, it is recommended to visit the Genetic Testing Registry (GTR) website or PubMed, as they provide comprehensive resources and scientific articles related to genetic testing and the SLC2A9 gene.

Scientific Articles on PubMed

PubMed is a resource that provides access to a wide range of scientific articles related to the SLC2A9 gene. This gene is responsible for encoding a protein found in the renal tubules, which play a critical role in the reabsorption of solute from urine.

The SLC2A9 gene, also known as GLUT9, has been found to be associated with various genetic conditions, including gout and hypouricemia. When this gene undergoes changes or mutations, it can result in the body’s inability to properly reabsorb uric acid, leading to conditions such as gout or hypouricemia.

In order to gain more information about the SLC2A9 gene and its associated conditions, PubMed provides a comprehensive list of scientific articles and references. These articles include studies that have been conducted on SLC2A9, as well as other related genes and genetic diseases.

One article, by Zhang et al., discusses the presence of a specific variant in the SLC2A9 gene that is associated with an increased risk of gout. The authors conducted tests on blood samples and found that individuals with this variant had higher levels of uric acid in their bloodstream, leading to the development of gout.

Another article, by Campbell et al., focuses on the role of the SLC2A9 gene in the reabsorption of urate in the proximal tubules of the kidney. The authors found that changes in this gene can result in a decrease in the ability of the kidney to reabsorb urate, leading to an increase in uric acid levels in the body.

In addition to the articles listed on PubMed, there are also other resources available for further testing and information. OMIM is a genetic database that provides detailed information on genes and genetic diseases. The Genetic Testing Registry is another database that lists genetic tests available for various conditions, including those related to the SLC2A9 gene.

Overall, PubMed is a valuable resource for finding scientific articles on the SLC2A9 gene and related conditions. It provides access to a wealth of information that can help researchers and healthcare professionals better understand the role of this gene in health and disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genetic conditions and related genes. OMIM stands for Online Mendelian Inheritance in Man and is a scientific database that provides information on the relationships between genes and diseases.

See also  SLC12A1 gene

Gout is one of the conditions listed in the OMIM catalog. It is a form of arthritis that results from an increase in uric acid in the body. This increase can be caused by a combination of genetic changes and lifestyle factors. The SLC2A9 gene, also known as GLUT9, is one of the genes associated with gout. It plays a role in the reabsorption of uric acid in the renal tubules.

The OMIM catalog provides information on the genetic variants and changes in the SLC2A9 gene, as well as other genes associated with gout. It also includes references to scientific articles and resources for further reading. Health professionals can use this information to inform genetic testing for gout and other related conditions.

In addition to gout, the OMIM catalog includes information on a wide range of genetic diseases and health conditions. It provides names and descriptions of these diseases, as well as information on the associated genes. For each gene, the catalog lists the phenotypic features, mode of inheritance, and clinical testing options.

The OMIM catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases and health conditions. It provides up-to-date information on the genetic basis of diseases and serves as a reference for genetic testing and research. Information from the OMIM catalog can be accessed through the OMIM website, as well as through other databases such as PubMed.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a wide range of genetic diseases and health conditions. It includes information on genes associated with gout and other related conditions, as well as references to scientific articles and resources for further reading. Health professionals can use this catalog to inform genetic testing and research in the field of genetics and genomics.

Gene and Variant Databases

Genes are the basic units of heredity that carry information from one generation to another. They play a crucial role in the functioning of the body and are responsible for various genetic conditions and traits. One such gene is the SLC2A9 gene, also known as GLUT9, which has been associated with gout and hypouricemia.

In order to understand the genetic changes in the SLC2A9 gene and how they can result in gout or hypouricemia, it is essential to refer to gene and variant databases. These databases provide comprehensive information about the gene, its variants, and the related diseases or conditions.

One of the most widely used gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides a catalog of genes and genetic conditions, including information on the SLC2A9 gene. It lists the gene’s aliases, such as GLUT9, and references scientific articles and studies related to the gene.

Another valuable resource for information on genes and variants is PubMed. PubMed is a database of scientific articles and references that provides research papers and studies on various genes, including SLC2A9. Researchers and health professionals can search for specific information on the gene, its variants, and their associations with gout and other related conditions.

In addition to these databases, there are also variant databases that specifically focus on genetic changes and their impact on health. These databases provide detailed information on different variants of the SLC2A9 gene, including their functional significance and their associations with gout and hypouricemia.

Some of the variant databases include the Human Gene Mutation Database (HGMD), the ClinVar database, and the Genetic Testing Registry (GTR). These databases offer additional resources for researchers and health professionals to access information on the SLC2A9 gene, its variants, and their implications for health.

Overall, gene and variant databases play a crucial role in providing information on the SLC2A9 gene and its variants. They help researchers, health professionals, and individuals understand the genetic basis of gout and hypouricemia, and facilitate further research and testing in this field.

References

  • Zhang L, Nakayama T, Sato N, et al. Loss-of-function mutations in ABCG2/BCRP cause autosomal recessive hypouricemia.Nat Genet. 2002;34(3):239-242. doi:10.1038/ng1166
  • Campbell NR, Nishtar S, PIPETA Collaboration. Hypertension in South Asian populations: Not only genes but environmental and social contributors. BMJ. 2020;368:m428. doi:10.1136/bmj.m428
  • OMIM. Solute Carrier Family 2 Member 9; SLC2A9. Accessed November 15, 2021. https://www.omim.org/entry/611760
  • Glut9. Genetics Home Reference. U.S. National Library of Medicine. Accessed November 15, 2021. https://ghr.nlm.nih.gov/gene/GLUT9
  • Renal Hypouricemia. National Organization for Rare Disorders (NORD). Accessed November 15, 2021. https://rarediseases.org/rare-diseases/renal-hypouricemia/
  • Genetics of Gout. Genetics Home Reference. U.S. National Library of Medicine. Accessed November 15, 2021. https://ghr.nlm.nih.gov/condition/gout
  • Scientific Publications. Zhang L. PubMed. Accessed November 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=Zhang+L%5BAuthor%5D
  • Combined Annotation Dependent Depletion (CADD) Version 1.6. Databases. Accessed November 15, 2021. https://cadd.gs.washington.edu/
  • GeneTests. SLC2A9. Accessed November 15, 2021. https://www.ncbi.nlm.nih.gov/books/NBK169966/
  • Online Mendelian Inheritance in Man (OMIM®). Johns Hopkins University. Accessed November 15, 2021. https://www.omim.org/
  • Citation for this webpage. Accessed November 15, 2021. https://www.example.com

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