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The SLC37A4 gene, also known as the glucose-6-phosphate transporter gene, is a genetic information which plays a crucial role in the transport and storage of glucose-6-phosphate. It is listed in the OMIM database, a catalog of genetic diseases and their associated genes. The SLC37A4 gene is responsible for a type of glycogen storage disease called GSD Ib, which is characterized by the inability to break down and store glycogen properly.

Studies have shown that mutations or changes in the SLC37A4 gene can lead to GSD Ib and related conditions. Testing for variants in this gene can be done through genetic testing or through scientific databases like PubMed. Additional information on this gene and its role in GSD Ib can be found in scientific articles and references listed in the PubMed database.

GSD Ib is a rare genetic disorder that affects the liver and kidneys and can lead to serious health problems. The SLC37A4 gene is critical for the normal functioning of these organs and the storage of glucose-6-phosphate. Understanding the genetic changes in this gene can help in the diagnosis and management of GSD Ib and related conditions.

Research on the SLC37A4 gene and its role in glycogen storage diseases is ongoing, and new information is constantly being added to the scientific literature. Scientists and researchers are working to better understand the genetic basis of GSD Ib and develop new tests and treatments for patients with this condition.

In the context of the SLC37A4 gene, there are several health conditions related to genetic changes. These genetic changes can result in various diseases and disorders that affect the storage and transport of glucose-6-phosphate, leading to glycogen storage disease type Ib (GSDIb).

Glycogen storage disease type Ib is a rare genetic disorder that affects the storage and release of glucose from glycogen, resulting in low blood sugar levels. This condition is caused by mutations in the SLC37A4 gene, which encodes a protein involved in glucose-6-phosphate transport in the endoplasmic reticulum.

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In this article, we will explore the scientific resources available for genetic testing and information on conditions related to changes in the SLC37A4 gene. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed database are listed as additional resources for information and references on these genetic changes.

Diagnostic testing for genetic changes in the SLC37A4 gene can be done through various genetic testing laboratories. These labs offer tests that can detect known variants of the gene associated with GSDIb. In some cases, additional testing may be required to confirm a diagnosis.

It is important to note that genetic changes in the SLC37A4 gene are not the only cause of glycogen storage disease type Ib. There may be other genes or genetic variants involved in the development and manifestation of this condition.

For individuals with suspected or confirmed genetic changes in the SLC37A4 gene, it is recommended to consult with a healthcare professional who specializes in genetic disorders. These specialists can provide personalized medical advice and guidance based on the individual’s specific genetic profile.

In conclusion, genetic changes in the SLC37A4 gene are linked to glycogen storage disease type Ib. There are resources and databases available for additional information and testing regarding these genetic changes. It is essential for individuals with suspected genetic changes in this gene to seek appropriate medical care and genetic counseling.

Glycogen storage disease type I

Glycogen storage disease type I (GSDI) is a genetic disorder caused by mutations in the SLC37A4 gene. It is also known as glucose-6-phosphatase, catalytic subunit 1 deficiency (GSDIa) or glycogen storage disease type Ib (GSDIb). GSDI is characterized by the inability to break down stored glycogen into glucose, leading to an abnormal accumulation of glycogen in various tissues and organs.

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GSDI is a rare disease, with an estimated prevalence of 1 in 100,000 to 1 in 200,000 individuals worldwide. It can manifest in infancy infancy or early childhood and is associated with severe symptoms such as hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), and growth retardation.

The SLC37A4 gene encodes a protein called glucose-6-phosphate translocase, which is responsible for the transport of glucose-6-phosphate from the endoplasmic reticulum into the cytoplasm. Mutations in this gene disrupt the function of the protein and impair the breakdown of glycogen. Different mutations in the SLC37A4 gene can result in different variants of GSDI.

The genetic testing for GSDI can be done to confirm the diagnosis and identify the specific genetic variant. Additional genetic testing may also be recommended to rule out other genetic diseases with similar symptoms. Genetic testing can be done using various methods, including sequencing the SLC37A4 gene, targeted mutation analysis, or deletion/duplication analysis.

Information about GSDI and other glycogen storage diseases can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and scientific articles. These resources provide information on the genetic changes associated with GSDI, the clinical presentation of the disease, and available treatments. Medical databases and registries can also provide additional information and resources on GSDI.

References:

  1. Chen YT, Cornblath M, Sidbury JB. Glycogen Storage Diseases. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Companies, Inc.; 2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/

  2. National Organization for Rare Disorders (NORD). Glycogen Storage Disease Type I. Available from: https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/

  3. Skrinar AM, Weinstein DA. Sweet’s Syndrome and Other Systemic Diseases. Dermatol Clin. 2008;26(4):513-520. doi:10.1016/j.det.2008.07.004

Other Names for This Gene

The SLC37A4 gene is also known by other names in scientific and genetic research. These alternative names are used in various genetic tests, databases, and resources related to glucose-6-phosphate transport and genetic storage diseases.

Some of the additional names for the SLC37A4 gene include:

  • G6PT
  • DTNBP2
  • GSD1b
  • Glucose-6-Phosphate Transporter
  • SP-G6Pase
  • Glucose-6-Phosphatase, Transporter Type
  • Translocase of Transmembrane Antigen
  • Glucose-6-Phosphatase, Transporter Type, Glycogen Storage Disease Type 1b, Glycogen Storage Disease Ic
  • G6PT1
  • Tran

These names can be found in various genetic testing catalogs, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

For additional information on the SLC37A4 gene and its related conditions, changes, and diseases, you can refer to scientific articles and references listed in databases like PubMed. These articles provide valuable information on the function, variants, and diseases associated with the SLC37A4 gene.

Additional Information Resources

  • Scientific Articles

    For more scientific information on SLC37A4 gene, GSD type Ib, and related conditions, you can refer to the following articles:

    • PubMed: A database of scientific articles
    • OMIM: A comprehensive resource on genetic diseases

  • Genetic Testing and Registry

    For information on genetic testing and the registry for SLC37A4 gene and GSD type Ib, you can visit:

  • Additional Resources

    For more information on genes, glycogen storage diseases, and testing, you can refer to the following resources:

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests, including the conditions they are used to diagnose and the genes they target. It serves as a central resource for information on genetic testing and helps healthcare providers and patients access relevant information on genetic tests.

The GTR lists tests that are available for genetic conditions related to the SLC37A4 gene, also known as the glucose-6-phosphate translocase (G6PT) gene. This gene is responsible for the transport of glucose-6-phosphate into the endoplasmic reticulum, and changes in this gene can lead to glycogen storage disease type Ib (GSDIb).

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The GTR provides a catalog of genetic tests related to GSDIb and other diseases that involve the SLC37A4 gene. These tests can help diagnose the disease and provide information about specific gene variants that may be present in an individual. The registry also lists additional resources related to genetic testing, such as scientific articles from PubMed and information from other databases.

The information in the GTR is stored in a structured manner, allowing users to search for tests based on specific criteria, such as the gene being targeted or the type of disease. Each test listed in the registry includes information about the laboratory offering the test, the specific gene or genes being tested, and the conditions the test is used to diagnose.

In addition to the GTR, there are other databases and resources available that provide information on genetic testing and related conditions. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic disorders, and PubMed, which contains scientific articles related to genetics and diseases.

Overall, the GTR provides a valuable resource for healthcare providers and patients seeking information on genetic testing for conditions related to the SLC37A4 gene. It allows users to access information on specific tests, including the genes targeted and the diseases they are used to diagnose, in order to make informed decisions about testing and disease management.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles on various topics related to health and diseases. It is a valuable resource for researchers, clinicians, and other healthcare professionals. In the context of the SLC37A4 gene, PubMed can provide additional information on related diseases, genetic testing, and variant changes.

Genetic diseases involving the SLC37A4 gene, such as Glycogen Storage Disease Type Ib (GSD Ib), have been listed in the PubMed database. These diseases are characterized by defects in the storage and transport of glycogen to glucose-6-phosphate in the endoplasmic reticulum. PubMed provides access to articles that discuss these conditions and their genetic basis.

In addition to PubMed, other databases like OMIM (Online Mendelian Inheritance in Man) and the GeneReviews catalog provide resources on genetic diseases and gene-related information. These databases can be used in conjunction with PubMed to gather more comprehensive information on the SLC37A4 gene and related diseases.

Scientific articles available on PubMed can be helpful in understanding the role of the SLC37A4 gene in various disease conditions. These articles may discuss variant changes in the gene, testing methods, and the impact of these changes on health. Researchers and healthcare professionals can refer to these articles to stay updated on the latest research findings and clinical guidelines.

When searching for scientific articles on PubMed, it is important to use relevant keywords, such as “SLC37A4 gene,” “GSD Ib,” or “glycogen storage diseases.” PubMed allows users to filter search results based on various criteria, including article type, publication date, and study design. This can help researchers find articles that are most relevant to their specific topic of interest.

Overall, PubMed is a valuable resource for accessing scientific articles related to the SLC37A4 gene and its associated diseases. It provides a comprehensive collection of articles from various scientific journals, making it an essential tool for researchers and healthcare professionals in the field of genetics and genetic testing.

References:

  • PubMed: https://pubmed.ncbi.nlm.nih.gov/
  • OMIM: https://www.omim.org/
  • GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a genetic database that aims to catalogue all known human genes and their associated diseases. It is a comprehensive resource providing information on genetic tests, gene-disease relationships, and gene variants.

OMIM stores information on a wide range of genetic conditions, including Glucose-6-Phosphate (G6P) Transporter Deficiency, also known as GSDIB. GSDIB is a rare genetic disorder that affects the transport and storage of glycogen in the body. It is caused by changes in the SLC37A4 gene.

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The OMIM database allows users to search for specific genes or diseases using various search criteria. It provides detailed information on the genetic basis of diseases and lists relevant references to scientific articles related to each gene or disease.

In addition to OMIM, there are other databases such as PubMed that store articles and resources related to genetic testing and gene-disease associations. These databases serve as valuable sources of information for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

The catalog of genes and diseases from OMIM includes a variety of genetic conditions, ranging from well-known disorders to rare diseases. Each entry in the catalog provides detailed information on the gene or disease, including gene names, disease type, inheritance patterns, and associated symptoms.

For diseases like GSDIB, the catalog provides information on the specific gene (SLC37A4) associated with the condition, as well as the genetic changes or variants that can cause the disease. This information is useful for genetic testing and diagnosis.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic health. It provides comprehensive information on genes, diseases, and their genetic basis, and references to additional articles and resources for further reading.

Gene and Variant Databases

There are several gene and variant databases available for storing and accessing information on the SLC37A4 gene and its variants. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in genetic testing and related conditions.

Here are some of the other gene and variant databases that provide information on the SLC37A4 gene:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SLC37A4 gene, including its function, associated diseases (such as Glycogen Storage Disease type 1b – GSD1B), and genetic changes.
  2. PubMed: PubMed is a scientific database that contains a vast collection of articles from peer-reviewed journals. It serves as a valuable resource for finding research articles related to the SLC37A4 gene, its variants, and related conditions.
  3. Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository of genetic tests and associated information. It provides a comprehensive list of genetic tests available for the SLC37A4 gene, along with additional information on the tests, such as their purpose, methodology, and clinical utility.
  4. GeneTests: GeneTests is a freely accessible medical genetics information resource that provides information on genetic conditions and testing. It includes a database of genes associated with genetic diseases, including the SLC37A4 gene, and provides information on diagnostic tests, laboratories, and related resources.
  5. RetNet: RetNet is a curated database that focuses on genes and variants associated with retinal diseases. While primarily focused on retinal conditions, RetNet also includes information on genes and variants related to other diseases, including the SLC37A4 gene and its variants.

These databases offer valuable resources for researchers, healthcare professionals, and individuals seeking information on the SLC37A4 gene and its variants. They allow easy access to information on gene function, associated diseases, genetic changes, diagnostic tests, and related resources. Researchers can use these databases to explore the scientific literature, find references, and further enhance their knowledge of this gene and its role in various health conditions.

References

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