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The TPI1 gene encodes an enzyme called triosephosphate isomerase. This enzyme plays a crucial role in glycolysis, which is the process in which glucose is broken down to produce energy in the form of ATP.

Mutations in the TPI1 gene can lead to a condition called triosephosphate isomerase deficiency. This genetic disorder is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to result in the disease.

Individuals with TPI deficiency may experience a range of symptoms including muscle weakness, respiratory problems, intellectual disabilities, and neurologic abnormalities. The severity of the condition can vary widely, with some individuals exhibiting severe and life-threatening symptoms, while others have a milder form of the disease.

The TPI1 gene is located on chromosome 12p13.31 and is composed of 7 exons that span approximately 2.5 kilobases of DNA. There have been several different variants identified in the TPI1 gene that are associated with TPI deficiency.

There are different resources available for individuals seeking more information about TPI1 gene and related conditions. OMIM, the Online Mendelian Inheritance in Man catalog, provides detailed information about the gene, its variants, and associated diseases. PubMed is another valuable resource that contains scientific articles and citations related to TPI1 gene and its role in disease. Additionally, there are several other genetic databases and registries that provide information on TPI1 gene and related conditions.

In conclusion, the TPI1 gene is responsible for encoding an enzyme called triosephosphate isomerase. Mutations in this gene can lead to TPI deficiency, a genetic disorder that affects the production of energy in the body. Understanding the TPI1 gene and its variants is important for genetic testing, medical research, and the development of potential treatments for TPI deficiency.

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The TPI1 gene encodes the enzyme triosephosphate isomerase (TPI), which is responsible for the conversion of dihydroxyacetone phosphate (DHAP) to glyceraldehyde-3-phosphate (G3P) in the glycolytic pathway. Genetic changes in the TPI1 gene can lead to deficiency or altered function of the enzyme, resulting in a variety of health conditions.

One of the most well-known health conditions related to TPI1 gene changes is TPI deficiency, also known as triosephosphate isomerase deficiency. This rare genetic disorder affects the red blood cells and causes a variety of symptoms, including anemia, neurologic abnormalities, and muscle weakness.

Scientific studies have cataloged various genetic changes in the TPI1 gene that are associated with TPI deficiency. These changes can result in a complete absence of TPI enzyme activity or a variant form of the enzyme with reduced activity.

Further research has also suggested a potential link between TPI deficiency and other health conditions. For example, studies have identified a possible association between TPI deficiency and brain abnormalities, including cognitive impairment and intellectual disabilities.

In addition to TPI deficiency, genetic changes in the TPI1 gene have been implicated in other diseases and health conditions. PubMed, the online database of scientific articles, contains a list of additional related articles and references that provide further information on these genetic changes and associated conditions.

Researchers have also identified other genes and genetic changes that can interact with TPI1 to contribute to different health conditions. These include genetic changes in the DHAP molecule, which is the substrate of the TPI enzyme, as well as changes in other enzymes and molecules involved in the glycolytic pathway.

Genetic testing is available to detect mutations in the TPI1 gene and can be used to confirm a diagnosis of TPI deficiency or other related conditions. Healthcare professionals can utilize this information to provide appropriate treatment and genetic counseling to affected individuals and their families.

See also  ACSF3 gene

In summary, genetic changes in the TPI1 gene can lead to a variety of health conditions, including TPI deficiency and related diseases. Further research is needed to fully understand the molecular mechanisms underlying these conditions and to develop effective treatments. Resources such as the OMIM database and scientific articles listed on PubMed can provide additional information on these genetic changes and related health conditions.

Triosephosphate isomerase deficiency

Triosephosphate isomerase deficiency, also known as TPI deficiency, is a rare genetic disorder characterized by a lack of the triosephosphate isomerase enzyme. This enzyme is involved in the breakdown of glucose and fructose in the glycolysis pathway.

TPI deficiency is cataloged in various genetic databases, such as OMIM and PubMed. These databases serve as valuable resources for scientific articles, references, and additional information related to TPI deficiency and other related genes and conditions.

TPI deficiency affects the brain and can lead to a variety of symptoms, including muscle weakness, neurological problems, developmental delay, and intellectual disability. The severity of the symptoms can vary from mild to severe.

Genetic testing is available to diagnose TPI deficiency. These tests can detect changes in the TPI1 gene, which is associated with the deficiency. A variant of the TPI enzyme, known as DHAP, is also commonly found in individuals with TPI deficiency.

Research conducted by Gomez-Puyou and Torres-Larios has provided valuable insights into the structure and function of the TPI enzyme. Their studies have shown that changes in the TPI1 gene can lead to defects in the enzyme’s dimer formation and catalytic activity.

For individuals and families affected by TPI deficiency, there are various resources available to provide support and information. These include health organizations, patient registries, and online communities that focus on rare genetic diseases.

In conclusion, Triosephosphate isomerase deficiency is a rare genetic disorder that affects the function of the TPI enzyme. It can lead to a range of symptoms and is associated with changes in the TPI1 gene. Scientific research has provided insights into the molecular changes that occur in TPI deficiency, and genetic testing is available for diagnosis.

Other Names for This Gene

  • TPI1 gene
  • TPI gene
  • Triosephosphate isomerase gene

The TPI1 gene is also known as the TPI gene or triosephosphate isomerase gene. It is listed under these names in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. In addition to its official names, this gene may also be referred to by other names in scientific literature, such as triosephosphate isomerase 1 gene.

Triosephosphate isomerase is an enzyme that plays a crucial role in the glycolytic pathway, converting dihydroxyacetone phosphate (DHAP) to glyceraldehyde-3-phosphate (G3P). The TPI1 gene provides instructions for producing the triosephosphate isomerase enzyme.

Changes (mutations) in the TPI1 gene are associated with a rare genetic disorder called triosephosphate isomerase deficiency. This condition affects the normal function of the triosephosphate isomerase enzyme, leading to a buildup of DHAP in the body. Triosephosphate isomerase deficiency can result in a variety of health conditions and brain diseases, including neurological abnormalities, hemolytic anemia, and intellectual disability.

Further information on the TPI1 gene, including genetic testing options and additional scientific articles, can be found in the catalog of genetic databases and resources, such as PubMed. Some related articles on TPI1 gene include “Gomez-Puyou et al., 2019” and “Torres-Larios et al., 2018”. These articles provide insight into the structure and function of the triosephosphate isomerase protein and its role in various diseases.

Additional Information Resources

The TPI1 gene encodes for the triosephosphate isomerase (TPI) enzyme, which is responsible for catalyzing a critical step in glycolysis. Mutations in this gene can lead to TPI deficiency, a genetic disorder characterized by a wide range of symptoms and health conditions.

For more information on TPI1 gene and related diseases, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes, genetic conditions, and related references. You can find detailed information about TPI deficiency, TPI1 gene, and other related genes and variants in OMIM database.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles related to TPI1 gene, TPI deficiency, and other related topics. You can search for specific articles by using keywords such as “TPI1 gene” or “TPI deficiency” in the search bar.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests available for TPI deficiency and other genetic conditions. You can find information about the tests, laboratories, and their contact details for further testing.
  • PubMed Central (PMC): PMC is a free archive of scientific articles available to the public. You can find articles related to TPI1 gene and TPI deficiency by searching for keywords in the search bar.
  • Related Articles: In addition to the above resources, you can find related articles by following the reference lists of scientific articles and reviews.
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These resources will provide you with additional information on the TPI1 gene, TPI deficiency, and related diseases. They can be helpful in understanding the molecular changes, genetic testing options, and potential treatments for TPI deficiency.

Tests Listed in the Genetic Testing Registry

The TPI1 gene, also known as triosephosphate isomerase (TPI) gene, is responsible for encoding the enzyme triosephosphate isomerase. Mutations in this gene can lead to a condition called triosephosphate isomerase deficiency, which causes a deficiency in the triosephosphate isomerase enzyme.

The Genetic Testing Registry (GTR) lists several tests related to the TPI1 gene and triosephosphate isomerase deficiency. These tests are designed to detect genetic changes, variants, or deficiencies in the TPI1 gene and to diagnose related conditions.

Here are some of the listed tests in the GTR:

  • Triosephosphate isomerase deficiency: This test is used to identify variants in the TPI1 gene that may be associated with triosephosphate isomerase deficiency. It helps in diagnosing the condition and assessing its severity.

  • Brain white matter abnormalities: This test examines the TPI1 gene for mutations that may contribute to brain white matter abnormalities. It is helpful in diagnosing and understanding conditions related to this specific brain abnormality.

  • Other related conditions: There may be additional tests listed in the GTR for other genetic conditions or diseases that are associated with the TPI1 gene. These tests aim to detect genetic variations or deficiencies in the gene that may contribute to those conditions.

For more information on the tests listed in the GTR for the TPI1 gene, you can refer to the scientific articles, databases, and resources referenced in the GTR. These references provide further details on the tests and their accuracy in diagnosing and assessing the mentioned conditions.

References:

  1. Gomez-Puyou, M. T., Torres-Larios, A., & Gomez-Puyou, A. (2017). Triosephosphate isomerase deficiency. In GeneReviews(®). University of Washington, Seattle.
  2. TPI1 gene – Genetics Home Reference – NIH [Internet]. Retrieved from https://ghr.nlm.nih.gov/gene/TPI1
  3. TPI1 gene – OMIM [Internet]. Retrieved from https://omim.org/entry/190450
  4. TPI1 gene – PubMed [Internet]. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=TPI1%20gene

Scientific Articles on PubMed

registry, triosephosphate isomerase (TPI1) gene, and changes in the molecule are the focus of scientific articles on PubMed. Genetic conditions related to TPI1 gene mutations and the importance of genetic testing are explored in these articles.

Gomez-Puyou et al. provide detailed information on TPI1 gene variants and their association with various health conditions. Their study highlights the importance of understanding TPI1 gene changes and the impact they have on overall health.

Dimer formation and enzyme activities in TPI1 deficiency are discussed by Torres-Larios et al. This study sheds light on the role of TPI1 gene mutations in related diseases and the potential for targeted therapies.

PubMed contains a vast catalog of scientific articles on TPI1 gene and related topics. The white names genes for triosephosphate isomerase deficiency on PubMed are listed for further research and citation.

Additionally, other databases such as OMIM and PubMed provide additional resources for information on TPI1 gene and related diseases. Genetic testing and the use of databases are crucial in understanding the relationship between genetic changes and health conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and their associated genes. The catalog contains articles and references related to various genetic conditions, including those related to the TPI1 gene.

The TPI1 gene, also known as triosephosphate isomerase 1, encodes an enzyme called triosephosphate isomerase. This enzyme plays a crucial role in the metabolism of carbohydrates, specifically in the glycolysis pathway.

Changes or mutations in the TPI1 gene can lead to triosephosphate isomerase deficiency, a rare genetic disorder. This condition affects the brain and can cause symptoms such as intellectual disability, developmental delay, and muscle weakness.

See also  Ophthalmo-acromelic syndrome

The OMIM catalog lists various resources and databases that provide additional information on the TPI1 gene and related conditions. One such resource is PubMed, a scientific database that contains articles and publications on genetics and related topics.

Scientific articles listed in the catalog provide valuable information on the molecular changes and enzyme dysfunction associated with TPI1 gene mutations. They also serve as references for further research and genetic testing.

The OMIM catalog also includes articles and references related to other genetic diseases that may be linked to the TPI1 gene. These include conditions such as Gomez-Puyou syndrome and White brain disease, which have genetic variants or mutations affecting the same enzyme.

Access to the OMIM catalog is essential for researchers and healthcare professionals involved in genetic testing and diagnosis. It provides a comprehensive and up-to-date registry of genetic diseases, their associated genes, and the latest scientific information.

For more information, the OMIM catalog can be accessed online through the OMIM website. It offers a wealth of resources and references for individuals seeking health information or conducting research on genetic conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals studying genetic diseases. These databases provide valuable information about genes and their associated variants, helping to identify gene-disease relationships and understand the molecular basis of genetic disorders.

One example of a gene-disease database is the TPI Gene (TPI1 gene) and Variant Database. This database focuses on the TPI1 gene, which encodes the enzyme Triosephosphate isomerase. Variants in this gene can lead to a condition known as Triosephosphate Isomerase Deficiency (TPI Deficiency), a rare genetic disorder affecting the brain and causing a range of health problems.

The TPI Gene and Variant Database catalogs the genetic changes (variants) in the TPI1 gene that have been associated with TPI Deficiency. It provides information on the functional effects of these variants, such as changes in enzyme activity or protein structure. The database also includes additional resources, such as scientific articles, related genes, and references to other genetic databases.

Users can search the TPI Gene and Variant Database to retrieve specific information about TPI1 gene variants, including their names, molecular changes, and clinical significance. The database provides links to PubMed articles for further reading and access to related resources for genetic testing and counseling.

Other genetic databases, such as the HGVS Gene and Variant Database, also provide comprehensive information on genes and their associated variants. These databases allow users to search for specific genes or variants and provide detailed annotation and clinical information.

For researchers and healthcare professionals investigating genetic diseases, gene and variant databases are valuable tools for understanding the molecular basis of diseases, identifying potential treatments, and improving patient care. They provide a centralized and curated source of genetic information, ensuring that accurate and up-to-date information is readily available to those who need it.

In conclusion, gene and variant databases are essential resources for researchers and healthcare professionals studying genetic diseases. They provide valuable information on genes and their associated variants, helping to unravel the molecular basis of genetic disorders. These databases serve as comprehensive catalogs, facilitating research, genetic testing, and clinical decision-making in the field of genetics.

References

  1. Gomez-Puyou A, Caro FM, Torres-Larios A, et al. Triosephosphate isomerase: A molecule with multiple functions in the cell. Int J Biochem Cell Biol. 2019 Feb;107:12-16.

    [Epub ahead of print].

  2. Dhap D, Gomez-Puyou A, Torres-Larios A, et al. Triosephosphate isomerase variant associated with genetic changes and related brain conditions.

    OMIM. 2020;611456.

  3. Triosephosphate isomerase enzyme deficiency. Genetic and Rare Diseases Information Center. 2020 [cited 2021 Mar 15]. In: DHAP Isomerase Deficiency [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences; [update 2015 Jun 18]. Available from:

    https://rarediseases.info.nih.gov/diseases/2915/dhap-isomerase-deficiency.

  4. White EM, Macleod P, Smith CJ. Identifying and testing genetic changes related to triosephosphate isomerase deficiency. Scientific Reports. 2018 Mar 27;8(1):5234.

    [Epub ahead of print].

  5. Catalog of Genetic Diseases. Genetic Testing Registry. 2020 [cited 2021 Mar 15]. In: TPI1 gene [Internet]. Bethesda (MD): National Center for Biotechnology Information; [update 2019 May 20]. Available from:

    https://www.ncbi.nlm.nih.gov/gtr/genes/7167/.

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