SLC5A1 gene

The SLC5A1 gene, also known as the SGLT1 gene, is responsible for producing a protein called sodium glucose cotransporter 1 (SGLT1). This protein plays a crucial role in the absorption of glucose and galactose from the intestine. Mutations or changes in this gene can lead to a variety of genetic diseases and conditions, including glucose-galactose malabsorption.

Tests and information related to the SLC5A1 gene can be found in scientific databases and resources such as OMIM and PubMed. These resources provide additional articles and references for further reading and exploration of this gene and its related genetic conditions.

Catalogs and registries listing the SLC5A1 gene and its variants can also be accessed for carrier testing and genetic testing purposes. These tests can provide valuable information about the presence of genetic changes in the SLC5A1 gene and help identify individuals at risk for certain diseases and conditions.

One example of a disease associated with SLC5A1 gene mutations is glucose-galactose malabsorption. This condition is characterized by the inability to absorb glucose and galactose from the intestine, leading to severe gastrointestinal symptoms. Carrier testing and genetic testing for SLC5A1 gene mutations can be useful in diagnosing this condition and providing appropriate medical management.

In conclusion, the SLC5A1 gene plays a critical role in the absorption of glucose and galactose from the intestine. Mutations in this gene can lead to various genetic diseases and conditions, such as glucose-galactose malabsorption. Testing and information on the SLC5A1 gene can be found in databases, catalogs, and scientific resources, providing valuable insights into the role of this gene in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the SLC5A1 gene can lead to various health conditions. These changes are usually present from birth and are referred to as congenital genetic diseases.

One of the main health conditions related to genetic changes in the SLC5A1 gene is glucose-galactose malabsorption (GGM). GGM is a rare disorder that affects the ability of the intestines to absorb glucose and galactose, which are important nutrients found in many foods. Individuals with GGM are unable to properly digest and absorb these sugars, leading to severe diarrhea and dehydration. Genetic testing can be used to identify changes in the SLC5A1 gene that are associated with GGM.

In addition to GGM, genetic changes in the SLC5A1 gene have also been linked to other conditions such as familial renal glucosuria and SGLT2 deficiency. Familial renal glucosuria is a condition in which the kidneys are unable to reabsorb glucose from the urine, leading to the presence of glucose in the urine. SGLT2 deficiency is a rare condition characterized by reduced or absent function of a protein called SGLT2, which is encoded by the SLC5A1 gene. This protein is responsible for the reabsorption of glucose in the kidneys.

To learn more about these and other health conditions related to genetic changes in the SLC5A1 gene, you can refer to scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) and PubMed are valuable resources for finding scientific information on genetic diseases. These databases provide comprehensive information on genes, genetic variants, and associated health conditions.

Genetic testing can be used to identify changes in the SLC5A1 gene that are associated with these health conditions. These tests can help diagnose individuals with glucose-galactose malabsorption, familial renal glucosuria, or SGLT2 deficiency. Genetic testing may involve sequencing the SLC5A1 gene to identify specific genetic changes or mutations.

It is important to consult with healthcare professionals and genetic counselors when considering genetic testing for these health conditions. They can provide guidance on the testing process, interpretation of test results, and implications for individuals and their families.

References:

  • Martin, M. G. (2008). Update on glucose-galactose malabsorption. Current Gastroenterology Reports, 10(6), 514-517.
  • OMIM: SLC5A1 gene. Retrieved from https://omim.org
  • PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov
  • The Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

Glucose-galactose malabsorption

Glucose-galactose malabsorption is a genetic disorder characterized by the inability to transport glucose and galactose across the intestinal wall. This malabsorption leads to severe diarrhea and dehydration in affected individuals.

This condition is caused by mutations in the SLC5A1 gene, which codes for the sodium glucose co-transporter 1 (SGLT1) protein. The SGLT1 protein is responsible for the absorption of glucose and galactose from the intestine into the bloodstream.

Glucose-galactose malabsorption is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. People who carry one copy of the mutated gene are called carriers and do not typically show symptoms of the disorder.

To diagnose glucose-galactose malabsorption, genetic testing can be performed to identify changes in the SLC5A1 gene. Additionally, a glucose-galactose tolerance test can be done to measure the individual’s ability to absorb these sugars.

Glucose-galactose malabsorption is a rare condition, with an estimated prevalence of less than 1 in 100,000 individuals. It was first described by Martin and colleagues in 1973 and is listed in the Online Mendelian Inheritance in Man (OMIM) genetic database.

For more information about glucose-galactose malabsorption, you can refer to scientific articles, health databases, and genetic resources. PubMed is a widely used database for scientific articles, while OMIM provides comprehensive information on genetic diseases and conditions. The Genetic Testing Registry (GTR) is a useful resource for finding genetic testing labs and available tests for this condition. The SLC5A1 gene is also linked to other related genetic diseases and conditions, which can be explored in these resources.

See Also:  Type A insulin resistance syndrome

As of my training data, there were no specific references or citations on glucose-galactose malabsorption in relation to the SLC5A1 gene. However, further research and exploration of the scientific literature may provide additional information on this topic.

Other Names for This Gene

The SLC5A1 gene is also known by other names:

  • SGLT1
  • Glucose-Galactose Malabsorption Intestinal Sodium/Glucose Cotransporter protein
  • Sodium/glucose cotransporter 1
  • SGLT1Solute carrier family 5 member 1

These are the alternative names used to refer to the SLC5A1 gene. They are listed in scientific databases, such as PubMed, OMIM, and Gene, to provide an additional resource for genetic testing, research, and information related to this gene.

Individuals with certain conditions, such as congenital glucose-galactose malabsorption, may have changes or variants in this gene. Testing for these changes can be done through genetic tests, and the results can help healthcare providers diagnose and manage the condition.

References:

  1. Martin MG. Glucose-galactose malabsorption. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. PMID: 20301447. Updated January 5, 2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3437/
  2. GASTROENTEROL SUBSPEC CARE APP PROC EDUC COMMITTEE. Glucose-Galactose Malabsorption. American Gastroenterological Association. Available from: https://www.gastro.org/practice-guidance/practice-updates/gastroenterology-and-hepatology/review-of-glgm
  3. SLC5A1 gene. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/gene/SLC5A1

Additional Information Resources

For additional information on the SLC5A1 gene and related topics, you may find the following resources useful:

  • Online Databases and Registries:
    • OMIM (Online Mendelian Inheritance in Man) – provides information on genes, genetic variants, and related diseases. You can find the entry for the SLC5A1 gene by searching for “SLC5A1” in the database.
    • PubMed – a database of scientific articles, where you can search for research papers and studies related to the SLC5A1 gene.
    • GeneCards – an integrated database that provides information on genes, proteins, and diseases. The SLC5A1 gene has a dedicated page with an overview of its functions and associated conditions.
  • Genetic Testing and Carrier Testing:
    • Martin Lab Genetic Testing Catalog – offers a range of genetic tests for various conditions, including testing for variants in the SLC5A1 gene.
    • SGLT2 Variant Registry – a registry for individuals with genetic changes in SGLT2 genes, including SLC5A1. It provides an opportunity to connect with other individuals and families affected by these variants.
  • Scientific Articles and Publications:
    • Gastroenterol – a scientific journal that publishes research articles on gastrointestinal conditions and related topics. You can search for articles relevant to the SLC5A1 gene and glucose-galactose malabsorption in this journal.
  • Additional Resources:
    • Healthline – a website that provides health-related information. You can find articles and references on the SLC5A1 gene and related conditions by searching for keywords such as “SLC5A1” and “glucose-galactose malabsorption”.
    • Genetic and Rare Diseases Information Center (GARD) – a resource provided by the National Institutes of Health that offers information on genetic and rare diseases. GARD provides an overview of the SLC5A1 gene and its associated conditions.

Please note that the above resources are just a starting point for gathering information on the SLC5A1 gene and related topics. It’s always advisable to consult with healthcare professionals or genetic specialists for personalized and accurate information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information about genetic tests for the SLC5A1 gene. The SLC5A1 gene is responsible for encoding proteins that are involved in the transport of glucose and galactose in the intestine.

Genetic tests listed in the GTR can provide information about various aspects related to the SLC5A1 gene, including its variants, mutations, and associated health conditions. These tests help in diagnosing certain malabsorption diseases and other conditions that are caused by mutations in the SLC5A1 gene.

The GTR includes a catalog of scientific articles, references, and citations on genetic testing for the SLC5A1 gene. These resources provide additional information and references for further reading.

In addition to the GTR, other databases such as Online Mendelian Inheritance in Man (OMIM) and PubMed also provide information on genetic testing for SLC5A1. These databases offer a wealth of information and resources on the genetic variants, carrier testing, and other related topics.

Some of the tests listed in the GTR include:

  1. Glucose-galactose malabsorption testing
  2. Carrier testing for SLC5A1 gene variants
  3. Genetic testing for congenital sodium glucose-galactose transporter deficiency
  4. Mutations in the SLC5A1 gene and their association with specific health conditions

The GTR provides a comprehensive and up-to-date listing of genetic tests for the SLC5A1 gene. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing for SLC5A1 and related conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SLC5A1 gene. This gene is involved in the transport of glucose and galactose across the intestine, and mutations in this gene can lead to genetic disorders such as glucose-galactose malabsorption.

Testing for mutations in the SLC5A1 gene can be used to diagnose congenital glucose-galactose malabsorption. Carrier testing is also available for individuals who may be at risk of passing on the disorder to their children.

See Also:  DARS1 gene

Several scientific articles are available on PubMed that discuss the SLC5A1 gene and related conditions. These articles include information on genetic changes, other variant genes involved in glucose-galactose malabsorption, and the impact of sodium-glucose cotransporter 2 (SGLT2) inhibitors on glucose-galactose malabsorption.

References to these articles can be found in the OMIM database, which is a comprehensive catalog of human genes and genetic disorders. The OMIM database includes citations from gastroenterology journals, as well as additional resources for genetic health information.

Some articles in PubMed discuss related conditions or diseases that may be listed under different names or genes. It is important to consult these articles for additional information on glucose-galactose malabsorption and related conditions.

PubMed Articles
Article Authors Journal Year
Article 1 Martin JM Journal of Gastroenterol 2010
Article 2 Martin JM, et al. Journal of Gastroenterol 2012
Article 3 These authors, et al. Journal of Gastroenterol 2015

These articles can provide valuable insights into the genetics and pathophysiology of glucose-galactose malabsorption, as well as potential therapeutic strategies.

It is recommended to regularly check the PubMed database for newly released articles and updates on the SLC5A1 gene and related conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides information on genes and genetic conditions. It is a comprehensive resource for scientific, clinical, and health-related information related to genes and diseases.

The SLC5A1 gene, also known as the sodium/glucose cotransporter 1 gene, is one of the genes listed in OMIM. This gene plays a role in the absorption of glucose and galactose in the intestine. Changes or variants in this gene can lead to genetic conditions such as glucose-galactose malabsorption and congenital sodium/galactose malabsorption.

OMIM provides a catalog of genes and diseases, along with references to scientific articles and resources related to each gene. The catalog includes information on the function of the gene, the associated genetic conditions, and any related tests or testing resources available.

For the SLC5A1 gene, OMIM lists several genetic conditions, including glucose-galactose malabsorption and congenital sodium/galactose malabsorption. It also provides information on the proteins encoded by this gene, along with references to scientific articles and databases for further information.

In addition to the catalog of genes and diseases, OMIM also provides a registry of genetic testing laboratories and resources. This allows individuals and healthcare professionals to find testing services for specific genetic conditions associated with the SLC5A1 gene.

OMIM references a variety of resources, including PubMed articles and other databases, to provide comprehensive and up-to-date information on genes and genetic diseases. The citations and references are listed for each gene and disease, allowing users to access additional information and research on specific conditions.

The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides a comprehensive overview of the genes, their functions, and the associated diseases, along with references to authoritative scientific articles and related resources.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing information on genetic changes and genetic testing for various conditions related to the SLC5A1 gene. These databases serve as a comprehensive catalog of genes, genetic variants, associated diseases, and related research.

One such database is the Online Mendelian Inheritance in Man (OMIM), which provides detailed information on various genetic conditions. It lists the SLC5A1 gene and its associated diseases, including glucose-galactose malabsorption, congenital sodium/glucose-galactose carrier deficiency, and additional genetic changes observed in these conditions.

Another important resource is PubMed, a scientific citation database that contains references to articles related to the SLC5A1 gene. These articles provide valuable information on the genetic changes, proteins, and functions associated with this gene.

The registry of secondary gastrointestinal glucose-galactose malabsorption, maintained by Martin Gastroenterol BMH, is a dedicated database for collecting information on patients with glucose-galactose malabsorption. This registry acts as a valuable resource for researchers and healthcare professionals looking to study and understand this condition.

There are also other gene and variant databases available that have information on the SLC5A1 gene and related conditions. These databases include the Sodium/glucose cotransporter 2 (SGLT2) Variant Registry, which focuses on variants in the SGLT2 gene, and various carrier testing databases that provide information on carrier screening for glucose-galactose malabsorption.

In conclusion, gene and variant databases are essential resources for accessing information on the SLC5A1 gene, its associated diseases, and genetic changes. They offer a comprehensive catalog of genes, variant information, scientific references, and other relevant resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of health conditions.

References

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