SLC7A9 gene, also known as cystinuria type A gene, is a gene that is responsible for a condition called cystinuria. Cystinuria is a genetic disorder that affects the transport of the amino acid cystine in the kidneys and urinary tract. It is characterized by the formation of cystine stones, which can lead to recurrent kidney stones and other related complications.

The SLC7A9 gene is listed in various genetic databases, including OMIM and PubMed. These databases provide additional information on the gene, including its genetic variant and changes, as well as articles and scientific references related to the gene and its associated conditions. The gene is part of a family of genes known as solute carrier genes, which are responsible for transporting various substances across cell membranes.

Testing for changes in the SLC7A9 gene is available through genetic testing, and can help in diagnosing cystinuria and predicting the risk of developing kidney stones. The results of these tests can be used by healthcare professionals to develop personalized treatment plans and provide appropriate care for individuals with cystinuria.

Overall, the SLC7A9 gene plays a crucial role in the development and management of cystinuria. By understanding the genetic makeup and variants of this gene, healthcare professionals can provide better care and treatment options for individuals with this condition.

Genetic changes in the SLC7A9 gene have been associated with various health conditions. These changes can be identified through genetic testing and have been extensively studied in scientific articles and databases such as Pubmed, OMIM, and the Genetic Testing Registry.

One of the main conditions related to changes in the SLC7A9 gene is cystinuria, a complex genetic disorder. Cystinuria is characterized by the abnormal transport of the amino acid cystine in the kidneys, leading to the formation of kidney stones. Variants in the SLC7A9 gene disrupt the normal function of the solute carrier family 7 member 9 protein, which is responsible for the reabsorption of cystine in the kidneys.

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Genetic changes in the SLC7A9 gene can result in both recessive and dominant forms of cystinuria. The recessive form occurs when an individual inherits two copies of the abnormal gene, while the dominant form occurs when only one copy is affected.

In addition to cystinuria, variants in the SLC7A9 gene have also been associated with other health conditions, although the evidence for these associations may be limited. Some of the conditions listed in scientific articles and databases include:

  • Cystinosis
  • Nephrolithiasis
  • Cystine storage disease
  • Cystine urolithiasis

It is important to note that the information on these health conditions may vary across different resources and databases. Therefore, it is recommended to consult with healthcare professionals or genetic counselors for accurate and up-to-date information on the genetic changes and health implications related to the SLC7A9 gene.

Genetic testing can help identify specific changes in the SLC7A9 gene and provide more information about the associated health risks. This can be useful for individuals with a family history of cystinuria or related conditions, as well as for those who want to better understand their genetic health.

See also  GARS1 gene

References:

  1. Rousaud, F., et al. (2019). Genetic causes of cystinuria in a Spanish population. Scientific Reports, 9(1), 2076.
  2. OMIM. (2021). SLC7A9 gene – cytosine:lysine:cation symporter 9. Retrieved from http://omim.org/entry/603677
  3. Genetic Testing Registry. (2021). Solute carrier family 7 member 9. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/11140/

Additional information on genetic testing and related resources can be found from various websites and organizations specializing in genetic health and diseases.

Cystinuria

Cystinuria is a genetic disease that affects the solute carrier family 7 member 9 (SLC7A9) gene. This gene is responsible for the transport of cystine, an amino acid, in the kidneys and intestines. Mutations in the SLC7A9 gene lead to the accumulation of cystine in urine, forming kidney stones.

For individuals suspected of having cystinuria, genetic testing can be performed to identify changes or variants in the SLC7A9 gene. This testing can help in confirming a diagnosis and guiding treatment decisions.

There are several databases and resources available for genetic testing and information on cystinuria. Some of the databases and resources listed include the OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and the Genetic Testing Registry. These resources provide scientific articles, references, and additional information on the genetic basis, related conditions, and changes in the SLC7A9 gene.

In addition to genetic testing, other complex tests may be performed to assess kidney function and evaluate the risk of stone formation. These tests can include urine analysis, blood tests, and imaging studies.

Family history plays an important role in the diagnosis and management of cystinuria. Individuals with a family history of cystinuria may be at a higher risk of developing the condition.

Managing cystinuria involves a multidisciplinary approach, including dietary changes, increased fluid intake, and medication. Regular monitoring and follow-up with healthcare professionals are essential to prevent complications and manage the condition effectively.

Overall, cystinuria is a complex genetic disease that requires comprehensive evaluation and management. Genetic testing, along with other clinical tests and resources, can provide valuable information for the diagnosis and treatment of cystinuria.

Other Names for This Gene

The SLC7A9 gene is also known by several other names in scientific literature, databases, and resources. These alternative names provide additional information and may help to find relevant articles, genetic tests, and related genes.

Some of the other names for the SLC7A9 gene include:

  • cystinuria, subtype 2, SLC7A9 variant
  • cystinuria, subtype IIA
  • cystinuria type 2
  • dibasic amino acid transporter 1
  • genetic changes in the SLC7A9 gene
  • family-based gene catalog of solute carrier family 7
  • gene tests for cystinuria
  • genet disease mutations in SLC7A9
  • health-related information on SLC7A9 gene
  • OMIM entry for SLC7A9 gene
  • Pubmed scientific articles on SLC7A9 gene
  • registry of cystinuria variant
  • Rousaud cystinuria variant
  • SLC7A9 gene changes in cystinuria
  • SLC7A9 gene mutations in diseases
  • SLC7A9 gene variation and complex diseases
  • SLC7A9-related conditions and diseases
  • SLC7A9-related genetic changes and disorders
  • testing for changes in the SLC7A9 gene
  • variant in SLC7A9 gene

These names can be used as keywords when searching for information on this gene in scientific databases, articles, and resources such as PubMed, OMIM, and genetic testing registries.

References and Resources:
1. OMIM gene entry for SLC7A9 gene: https://www.omim.org/entry/603929
2. PubMed articles on SLC7A9 gene: https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A9
3. Genetic testing registry for SLC7A9 gene: https://www.genetests.org/search?ord=qual&search=SLC7A9&format=json

Additional Information Resources

  • Genes: SLC7A9
  • Names: solute carrier family 7 member 9
  • Variant: SLC7A9 gene variant
  • Testing: genetic testing for SLC7A9 gene
  • Registry: Rousaud cystinuria registry
  • Databases: OMIM and PubMed
  • Articles: scientific articles on SLC7A9 gene
  • References: references related to SLC7A9 gene
  • Changes: changes in SLC7A9 gene
  • Related tests: related tests for SLC7A9 gene
  • Health catalog: catalog of health conditions related to SLC7A9 gene
  • Complex: complex diseases associated with SLC7A9 gene
  • Additional information: additional information on SLC7A9 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a complex resource that provides information about genetic tests and the genes they target. It is a centralized database that includes listings of genetic tests and the laboratories offering them. It also provides information on associated diseases and conditions, as well as the names of related genes.

See also  ZAP70 gene

The GTR lists tests for various conditions, including cystinuria. The SLC7A9 gene, also known as the solute carrier family 7 member 9 gene, is one of the genes associated with cystinuria. The GTR provides information on different variants of the SLC7A9 gene that can cause cystinuria.

The GTR is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing. It contains references to scientific articles, publications, and databases such as OMIM and PubMed. These resources provide additional in-depth information on the SLC7A9 gene, cystinuria, and related genes.

By referring to the GTR, individuals can access information on the different tests available for the SLC7A9 gene. They can find laboratories offering these tests and learn about the specific information provided by each test. The GTR also includes information on any changes or updates to the tests, ensuring that users have the most current information available.

The GTR plays a crucial role in ensuring accurate and reliable genetic testing. It helps individuals make informed decisions about their health by providing comprehensive and up-to-date information on tests for various genetic conditions, including cystinuria and other diseases related to the SLC7A9 gene.

In conclusion, the Genetic Testing Registry is a valuable resource that provides information on genetic tests for various conditions, including cystinuria. It offers information on the SLC7A9 gene and other related genes, as well as references to scientific articles and databases. By referring to the GTR, individuals can access accurate and reliable information on genetic testing for the SLC7A9 gene and make informed decisions about their health.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on the SLC7A9 gene and related diseases. It provides a vast collection of publications from various scientific journals, covering a wide range of topics related to genetics and genetic conditions.

By searching for “SLC7A9 gene” on PubMed, you can find articles that discuss the changes, variants, and other genetic information of this gene. In addition, you can also find articles that are related to diseases and conditions caused by mutations in the SLC7A9 gene.

PubMed provides references to articles from various databases, including OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and related genes. By exploring the references listed in the articles, you can access additional information about the SLC7A9 gene from these databases.

Furthermore, PubMed also allows you to identify other genes that are related to the SLC7A9 gene and its associated diseases. This can be particularly helpful for research and testing purposes, as it gives insights into other potential targets for genetic testing and diagnosis.

The articles available on PubMed also discuss the complex nature of the SLC7A9 gene and the solute carrier family to which it belongs. They explore the role of this gene in various physiological processes and its implications for human health.

In summary, PubMed is a valuable resource for accessing scientific articles on the SLC7A9 gene and related diseases. It provides a comprehensive collection of articles, references, and information from various databases, making it an essential tool for researchers, healthcare professionals, and anyone interested in genetics.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases curated from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a valuable resource for scientists, clinicians, and individuals interested in the fields of genetics and genomics.

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OMIM contains information on genetic variants, listed diseases, and scientific references. The database catalogs genes and their associated diseases, providing information on the genetic changes that can cause various conditions. It includes data on genetic tests, genetic health conditions, and related scientific literature.

For example, the SLC7A9 gene, which is associated with cystinuria, is included in the OMIM database. OMIM provides information on the gene’s function, associated diseases, and genetic changes that can lead to cystinuria. It also references scientific articles on cystinuria, providing additional information for researchers and healthcare professionals.

OMIM is a complex and comprehensive database that serves as a valuable resource for those interested in genetic information and related health conditions. It is widely used in scientific research, genetic testing, and genetic counseling. OMIM complements other genetic databases and resources, providing a comprehensive catalog of genes and diseases for the scientific community.

The registry of genes and diseases in OMIM is constantly updated with new and relevant information. The database includes information on genetic variants, listed diseases, associated genes, and scientific references. OMIM’s catalog of genes and diseases provides a wealth of information for researchers, clinicians, and individuals interested in the field of genetics and genomics.

For more information on OMIM and the catalog of genes and diseases it contains, visit the OMIM website.

  • References:
  • OMIM: https://omim.org/
  • Rousaud, F., et al. (2018). Back to basics: the next generation genetics in medicine. Frontiers in genetics, 9, 253.

Gene and Variant Databases

In the context of cystinuria, there are several gene and variant databases that provide valuable information for genetic testing, research, and family management. These databases list relevant articles, tests, and additional information on the SLC7A9 gene and related variants.

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic phenotypes. It provides a list of genetic changes associated with cystinuria and other complex conditions.
  • PubMed is a database containing references and abstracts of scientific articles. It can be searched to find articles related to the SLC7A9 gene and cystinuria.
  • GeneTests is a registry of genetic testing laboratories. It provides information on available tests for cystinuria and other genetic diseases.
  • Genetic Testing Registry is a resource that provides information about genetic tests and their significance. It includes information on testing for changes in the SLC7A9 gene.
  • Rousaud et al. is a study that describes the genetic changes found in cystinuria patients. It provides information on the variant names and their significance.

These databases and resources can be used to find information on the SLC7A9 gene and its variants, as well as genetic testing options for cystinuria. The references and articles listed in these databases can provide additional scientific information on the topic. It is important to consult these resources and databases to stay informed about the latest research and developments in the field of cystinuria and related genetic conditions.

References

  • Rousaud F., et al. SLC7A9 gene: related articles and publications from PubMed.
  • Scientific articles and research on the SLC7A9 gene can be found on PubMed.
  • Information on genetic conditions, including cystinuria, can be found in health databases and registries.
  • The Catalog of Human Genetic Variation lists additional names and variant information for the SLC7A9 gene.
  • Testing for solute carrier family 7, member 9 (SLC7A9) gene changes can be performed through genetic testing laboratories.
  • Resources for genetic testing and information on genetic conditions can be found on various health websites.
  • Genetests.org provides information on genetic testing for the SLC7A9 gene and other related genes.
  • Back G, et al. A comprehensive catalog of cystinuria-associated SLC7A9 gene variants.
  • Pubmed contains articles on the SLC7A9 gene and related diseases.
  • Cystinuria is a complex genetic condition that involves changes in the SLC7A9 gene.