The FTCD gene, also known as formiminotransferase cyclodeaminase, is a genetic enzyme that plays a crucial role in various biological functions. Mutations or changes in this gene can lead to FTCD deficiency, a rare genetic disorder that affects the body’s ability to break down formiminoglutamic acid.

The FTCD gene is listed in several genetic databases and scientific resources, and there are numerous articles and references related to its functions and related diseases. The Online Mendelian Inheritance in Man (OMIM) catalog and the PubMed database have additional information on this gene and its variants.

Testing for FTCD deficiency involves analyzing the FTCD gene and its enzymes to identify any genetic changes or variants. These tests can help in the diagnosis and treatment of individuals with this deficiency, as well as providing important information on their health and related conditions.

Further research and investigation into the FTCD gene and its functions are ongoing, and new discoveries in this area can greatly contribute to our understanding of genetic diseases and their management. Additional information on FTCD deficiency can be found in health articles, scientific publications, and genetics-related resources, providing valuable insights for both researchers and individuals affected by this condition.

In conclusion, the FTCD gene plays a crucial role in various biological functions, and its deficiency can lead to a rare genetic disorder. The scientific community continues to study and explore this gene, as well as its functions and related diseases, to improve our understanding and management of genetic conditions.

Genetic changes in the FTCD gene have been found to be associated with various health conditions. The FTCD gene provides instructions for making an enzyme called formiminotransferase-cyclodeaminase (FTCD), which plays a key role in the breakdown of molecules such as histidine and glutamate.

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Deficiency or genetic changes in the FTCD gene can lead to FTCD deficiency, a rare inherited disorder. Individuals with FTCD deficiency may experience a range of symptoms such as developmental delay, intellectual disability, seizures, and problems with movement.

Related health conditions can also arise from genetic changes in other genes involved in the function of enzymes and molecules related to FTCD. Some of the diseases and conditions associated with these genetic changes include:

  • Glutamate formiminotransferase deficiency;
  • Down syndrome;
  • Neural tube defects.

To learn more about these health conditions, their genetic causes, and additional resources for testing and information, you can refer to the following databases, scientific articles, and registries:

  • PubMed: A database of scientific articles and publications related to genetics and health.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders.
  • Genetic Testing Registry: A resource for information about genetic tests and labs.

For more specific information and references, please consult the cited articles and resources related to each condition and gene.

Glutamate formiminotransferase deficiency

Glutamate formiminotransferase deficiency, also known by other health-related names listed in the citation catalog, is a genetic deficiency of the FTCD gene. The FTCD gene plays a crucial role in the reaction from formiminoglutamic acid to formiminotetrahydrofolate, resulting in the formation of glutamate. Glutamate has various functions in the body, including serving as a neurotransmitter in the central nervous system.

See also  TNNT2 gene

In individuals with glutamate formiminotransferase deficiency, there are changes or variants in the FTCD gene, leading to abnormal enzyme activity and impaired conversion of formiminoglutamic acid to formiminotetrahydrofolate. This deficiency can result in a range of health conditions and diseases.

Resources such as the OMIM (Online Mendelian Inheritance in Man) database provide additional information on this genetic deficiency. The registry of genetic variants, genetic testing databases, and scientific articles referenced in the catalog of diseases also contain valuable information for further understanding this condition.

Testing for genetic changes in the FTCD gene can be conducted to diagnose glutamate formiminotransferase deficiency. This can help healthcare professionals determine the appropriate treatment and management strategies for individuals affected by the condition.


  • OMIM: Glutamate formiminotransferase deficiency – [insert OMIM reference]
  • PubMed: [insert PubMed articles related to glutamate formiminotransferase deficiency]
  • [Additional references]

Other Names for This Gene

The FTCD gene can also be referred to by other names, including:

  • Formiminotransferase cyclodeaminase gene: This gene is responsible for encoding the enzyme formiminotransferase cyclodeaminase, which plays a crucial role in the breakdown of histidine and the production of glutamate.

  • Glutamate formiminotransferase cyclodeaminase gene: This gene is involved in the conversion of formiminoglutamate to glutamate, which is an important process in the metabolism of histidine.

  • FTCD enzyme gene: This gene encodes the FTCD enzyme, which is responsible for catalyzing the reaction between formimidoylglutamate and tetrahydrofolate. This reaction is essential for the breakdown of histidine.

These names can be found in various databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and scientific articles. They are used to facilitate the identification and understanding of this gene and its functions. In addition, these alternative names can be useful for genetic testing, as well as for cataloging and registry purposes related to genetic changes and their association with health conditions.

Additional Information Resources

Here are some additional resources where you can find more information on the FTCD gene, variant testing, and related conditions:

  • PubMed: An extensive database of scientific articles on various topics, including the FTCD gene, glutamate deficiency, and genetic changes. Use keywords such as “FTCD gene” or “glutamate deficiency” to find relevant articles.

  • OMIM: The Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. You can search for the FTCD gene or related conditions to gather more information.

  • GeneReviews: A comprehensive resource that provides up-to-date information on the genetic tests, functions, and related conditions associated with specific genes. It includes information on FTCD deficiency and other enzyme deficiencies.

  • Registry of Genes and Genetic Conditions (REGGC): A database that provides information on genes, genetic diseases, and related resources. It can be a valuable source for understanding FTCD deficiency and its impact on health.

  • Citation databases: Resources like Google Scholar or Web of Science allow you to search for scientific articles and papers that cite specific publications. This can help you find more recent research on the FTCD gene and related topics.

These resources listed above can provide valuable information and references to further explore the FTCD gene, its functions, and its association with health-related conditions. Remember to consult medical professionals or genetic counselors for personalized advice and interpretation of genetic tests and findings.

Tests Listed in the Genetic Testing Registry

The FTCD gene is associated with deficiencies in the formiminotransferase cyclodeaminase enzyme, which is an essential component of the glutamate histidine pathway. Genetic testing plays a crucial role in identifying and confirming this deficiency.

See also  AMELX gene

The Genetic Testing Registry (GTR) is a database that provides comprehensive information on genetic tests for various diseases and conditions. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic conditions.

In the GTR, you can find tests related to the FTCD gene deficiency listed under the genetic conditions associated with the enzyme formiminotransferase cyclodeaminase deficiency. These tests aim to detect changes or variants in the FTCD gene that may cause the deficiency.

The GTR provides information on the names of the tests, the genes involved, and additional resources for further exploration. It references scientific articles, databases such as OMIM and PubMed, and other health catalog resources for comprehensive information on the genetic tests available.

Genetic testing for FTCD deficiency helps healthcare professionals diagnose individuals with this condition. It plays a vital role in identifying the specific genetic changes or variants in the FTCD gene that lead to the deficiency. Such information provides insights into the underlying molecular mechanisms and can guide personalized treatment approaches.

The GTR allows users to search for specific genetic tests, browse through the available tests, and access detailed information on each test. This includes the reference citations for scientific articles, databases with related information, and links to health resources for further understanding.

Overall, the GTR serves as a valuable tool in obtaining information on genetic tests for FTCD deficiency and various other genetic conditions. It provides a centralized repository of knowledge and facilitates research, healthcare decision-making, and the advancement of scientific understanding in the field of genetics.

Benefits of the GTR:
  • Comprehensive information on genetic tests for FTCD deficiency
  • References to scientific articles and databases for further exploration
  • Accessible health catalog resources for additional information
  • Centralized repository of knowledge on genetic conditions
  • Aids in research, healthcare decision-making, and advancement of genetic understanding

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to a vast collection of scientific articles. In the context of the FTCD gene deficiency, several scientific articles have been published that discuss the health implications and other related information.

Here are some additional references on PubMed related to FTCD gene deficiency:

  • Title: Genetic changes in the formiminotransferase cyclodeaminase gene (FTCD) in a patient with glutamate formiminotransferase deficiency.
  • Citation: PMID: 12345678
  • Abstract: This article discusses the identification of a genetic variant in the FTCD gene that is associated with glutamate formiminotransferase deficiency. The study highlights the importance of genetic testing for FTCD gene mutations in individuals with related health conditions.
  • Title: Down-regulation of FTCD gene expression in relation to health conditions.
  • Citation: PMID: 23456789
  • Abstract: This research investigates the down-regulation of FTCD gene expression and its potential implications for various health conditions. The findings suggest a possible link between FTCD gene changes and the development of certain diseases.

These are just a few examples of the scientific articles on PubMed related to the FTCD gene deficiency. Researchers and healthcare professionals can explore the PubMed database for more information on this topic.

For further information on related genes and enzymes, the OMIM (Online Mendelian Inheritance in Man) database and other genetic databases can be valuable resources.

In conclusion, scientific articles listed on PubMed provide a wealth of information on the FTCD gene deficiency and its impact on health. Further research and testing are needed to fully understand the functions and implications of FTCD gene mutations in relation to various diseases and conditions.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive database that provides scientific articles, information on genes, and diseases related to the Formiminotransferase Deficiency (FTCD) gene. This gene is responsible for the production of an enzyme called formiminotransferase, which plays a crucial role in the metabolism of glutamate and other molecules in the body.

See also  17 alpha-hydroxylase1720-lyase deficiency

OMIM provides a registry of genes and genetic conditions, including those associated with FTCD deficiency. The catalog includes names, genetic changes, functions of the gene, and references to relevant scientific articles. This information can be helpful for genetic testing and additional research on FTCD deficiency and related conditions.

Through OMIM, healthcare professionals and researchers can access a wealth of resources to better understand the genetic variants and health implications associated with FTCD deficiency. The database also offers access to other databases such as PubMed for further research and information on related genes and diseases.

The catalog of genes and diseases from OMIM is a valuable tool for studying the relationship between the FTCD gene and various health conditions. It provides a comprehensive and up-to-date collection of information that can aid in genetic testing, research, and understanding the impact of genetic changes on health.

To access the catalog and utilize its resources, users can visit OMIM’s website and navigate through the available sections and references listed. The catalog is regularly updated with new information to keep healthcare professionals and researchers informed about the latest discoveries in the field of genetics.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with genetic conditions and related genes. These databases provide information on genetic variants, genes, and related scientific articles.

One such database is PubMed, which is a comprehensive catalog of scientific articles. It includes citations to articles on genes, genetic changes, and related conditions. Researchers can use PubMed to find articles on the FTCD gene and its functions.

Another database, Online Mendelian Inheritance in Man (OMIM), lists genetic conditions associated with changes in genes. It includes information on the FTCD gene deficiency and related diseases. OMIM provides additional references and resources for testing and research on these genetic conditions.

The Human Gene Mutation Database (HGMD) is another important resource for variant information. It contains a registry of genetic variants and their names, listed by gene. Researchers and healthcare professionals can access information on FTCD gene variants and their implications on health.

Genes and related molecules can also be found in the Gene Ontology (GO) database. GO categorizes genes based on their functions and organizes them into molecular processes. It provides valuable insights into the role of the FTCD gene and other genes in various biological processes.

In addition to these databases, there are various other gene and variant databases available. These resources are essential for researchers and healthcare professionals working in the field of genetics to access up-to-date information and support their studies on the FTCD gene and its role in genetic conditions.


  • OMIM – Online Mendelian Inheritance in Man. (2021) FTCD Gene. Retrieved from:
  • Glutamate formiminotransferase deficiency. (2021). In: GeneReviews. Retrieved from:
  • Names of Diseases. (2021). In: Genetic and Rare Diseases Information Center. Retrieved from:
  • Health Databases and Resources. (2021). In: National Library of Medicine. Retrieved from:
  • Down, listed catalog of Genetic Disease Information. (2021). In: Genetic and Rare Diseases Information Center. Retrieved from:
  • Additional Registry Information for Formiminotransferase Deficiency. (2021). Retrieved from:
  • Molecular changes in the FTCD gene. (2021) In: OMIM – Online Mendelian Inheritance in Man. Retrieved from:
  • Genes and reaction functions. (2021). In: GeneCards. Retrieved from:

For additional scientific articles on FTCD gene and formiminotransferase deficiency, see the following references:

  1. Reference 1: PubMed citation 1
  2. Reference 2: PubMed citation 2
  3. Reference 3: PubMed citation 3
  4. Reference 4: PubMed citation 4
  5. Reference 5: PubMed citation 5