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The FOLR1 gene, also known as the folate receptor 1 gene, codes for a protein that is responsible for the transport of the vitamin folate from the bloodstream to cells. Folate deficiency can lead to a lack of this essential vitamin, which in turn can cause a variety of health conditions and disorders.

Changes in the FOLR1 gene have been found to be related to genetic disorders and diseases, particularly those affecting the brain and nervous system. Some of the conditions associated with FOLR1 gene changes include cerebral folate deficiency, cerebral folate receptor alpha deficiency, and folate receptor alpha deficiency syndrome.

Information about the FOLR1 gene can be found in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional articles, references, and genetic testing resources related to FOLR1 and its role in various diseases and conditions.

Genetic testing for changes in the FOLR1 gene can be done through specialized laboratories and testing centers. This testing can help identify individuals who may be at risk for certain genetic disorders or who may have a deficiency in folate transport due to FOLR1 gene variants.

The FOLR1 gene is also cataloged in a genetic registry called the Genetic Testing Registry (GTR). This registry provides information on the names and other identifiers of genetic tests for FOLR1, as well as the laboratories and testing centers that offer these tests.

Genetic changes in the FOLR1 gene can lead to various health conditions and disorders. The FOLR1 gene provides instructions for making a receptor protein called folate receptor 1. This receptor is found on the surface of many cell types, including those in the blood and brain.

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Changes in the FOLR1 gene can result in folate deficiency, which is a condition characterized by low levels of folate in the bloodstream. Folate is a vitamin that is important for the production and maintenance of new cells. Without enough folate, different systems in the body can be affected.

One health condition associated with FOLR1 gene changes is cerebral folate deficiency (CFD). CFD is a disorder that affects the transport of folate into the brain. This disorder can lead to neurological symptoms and developmental delays.

Information on the health conditions related to genetic changes in the FOLR1 gene can be found in various databases and scientific resources. These resources include online databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and gene-specific databases like the FOLR1 gene entry in the GeneCards database.

Genetic testing can be used to identify changes in the FOLR1 gene and diagnose related health conditions. These tests can help healthcare providers determine the most appropriate management and treatment options for individuals with FOLR1 gene changes.

Additional information on the FOLR1 gene, related health conditions, and genetic changes can be found in scientific articles and references listed in these databases. This information can help researchers, healthcare providers, and individuals seeking to learn more about genetic conditions and their causes.

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Cerebral folate transport deficiency

Cerebral folate transport deficiency is a genetic disorder caused by changes in the FOLR1 gene. This gene is responsible for the transport of folate, a vitamin, into the bloodstream and cells. When there is a lack of functional FOLR1 gene, it leads to a condition called cerebral folate transport deficiency.

Individuals with cerebral folate transport deficiency may experience a range of neurological symptoms, including developmental delay, intellectual disability, seizures, and movement disorders.

To diagnose cerebral folate transport deficiency, genetic testing can be performed to look for changes in the FOLR1 gene. There are resources available for genetic testing and additional information on related diseases in the OMIM catalog and PubMed databases.

Testing for cerebral folate transport deficiency can be done through blood tests to measure folate levels and perform genetic testing.

For more information on cerebral folate transport deficiency, scientific articles and references can be found on PubMed.

Other names for cerebral folate transport deficiency include cerebral folate receptor 1 deficiency and FOLR1-related disorder.

Other Names for This Gene

The FOLR1 gene is also known by several other names:

  • Steinfeld syndrome
  • Folate receptor 1
  • Folate receptor alpha
  • FR
  • FR-alpha
  • Folr-1

These names are used to refer to the same gene and can be found in various genetic databases, scientific articles, and related resources. The FOLR1 gene is associated with conditions such as cerebral folate deficiency and cerebral folate receptor alpha deficiency. Additional information about this gene can be found in the PubMed and OMIM databases.

Testing for FOLR1 gene changes may be available through genetic testing laboratories. This gene may also be listed on a genetic testing registry under other names, such as Steinfeld syndrome or cerebral folate deficiency.

Genes like FOLR1 play an important role in the transportation and utilization of folate, a vitamin that is essential for the health and proper function of cells in the bloodstream and throughout the body.

Additional Information Resources

If you would like to find more information about the FOLR1 gene and related conditions, the following resources may be helpful:

  • OMIM: OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the FOLR1 gene, including its role in folate deficiency and related diseases. You can access the FOLR1 entry in the OMIM database at https://www.omim.org/entry/136430.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics, including genetic research. By searching for “FOLR1 gene” or related keywords, you can find scientific articles discussing the function of the FOLR1 gene and its association with different diseases. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetic Testing Registry: The Genetic Testing Registry is a central database that provides information about genetic tests. By searching for “FOLR1 gene” or related keywords, you can find laboratories that offer testing for changes in this gene and related conditions. You can access the Genetic Testing Registry at https://www.ncbi.nlm.nih.gov/gtr/.

These resources provide valuable information on the FOLR1 gene, its role in folate deficiency, and its association with various diseases. They are useful for both healthcare professionals and individuals seeking more information about this genetic disorder.

Tests Listed in the Genetic Testing Registry

In the context of FOLR1 gene, there are several tests listed in the Genetic Testing Registry. These tests help in identifying changes in the FOLR1 gene and provide important information for individuals, healthcare providers, and researchers.

The Genetic Testing Registry is a central repository of genetic test information. It integrates information from various databases and resources related to genetic testing and genetic conditions. The registry serves as a catalog of genetic tests and provides information about the specific genes, variants, and conditions associated with these tests.

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The FOLR1 gene, also known as folate receptor 1 gene, is responsible for encoding a protein that plays a crucial role in folate transport across cell membranes. Changes in this gene can lead to various disorders and conditions, including folate deficiency, cerebral folate deficiency, and other related health issues.

The tests listed in the registry include genetic tests that specifically target the FOLR1 gene and its variants. These tests can help identify specific genetic changes or variants in the FOLR1 gene that may be associated with certain disorders or conditions.

The registry provides additional information about these tests, such as the names of laboratories offering the tests, references to scientific articles on the topic, and links to other relevant resources. This information can be valuable for individuals seeking genetic testing for FOLR1 gene-related conditions.

The FOLR1 gene testing listed in the Genetic Testing Registry can be particularly important for individuals with suspected folate deficiency or cerebral folate deficiency. These tests can help confirm a diagnosis, guide treatment decisions, and provide valuable information for individuals and healthcare providers.

In summary, the Genetic Testing Registry lists several tests specifically targeting the FOLR1 gene and related conditions. These tests provide important information about genetic changes in the FOLR1 gene and can help individuals and healthcare providers make informed decisions about diagnosis, treatment, and management of folate deficiency and cerebral folate deficiency.

Scientific Articles on PubMed

The FOLR1 gene, also called folate receptor alpha, is related to several disorders, including cerebral folate transport deficiency. This deficiency results in a lack of folate in the cerebral spinal fluid, which can lead to a range of diseases and disorders.

PubMed is a valuable resource for finding scientific articles related to FOLR1 and cerebral folate transport deficiency. It provides a wealth of information on the gene and its role in various conditions.

One study by Steinfeld et al. (2010) found that mutations in the FOLR1 gene can cause cerebral folate deficiency, leading to neurological symptoms such as developmental delay and seizures. The study also highlighted the importance of genetic testing for FOLR1 mutations in individuals with unexplained cerebral folate deficiency.

In addition to scientific articles, PubMed also provides links to other resources such as databases and genetic registries. These resources can be helpful for further research and information on FOLR1 and related conditions.

For instance, the Online Mendelian Inheritance in Man (OMIM) database lists the FOLR1 gene and its associated variant as a cause of cerebral folate transport deficiency. This database provides detailed information on the genetic changes associated with the deficiency, as well as additional conditions linked to FOLR1.

Testing for FOLR1 mutations and deficiency can be done through various blood tests. These tests measure the level of folate in the bloodstream and can help diagnose cerebral folate transport deficiency.

In conclusion, PubMed offers a wide range of scientific articles, databases, and resources for understanding the FOLR1 gene and its role in cerebral folate transport deficiency. Researchers and healthcare professionals can find valuable information on genetic changes, testing methods, and associated conditions through this platform.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and related genetic conditions. It contains a collection of genes that have been found to be associated with different health conditions.

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One of the genes listed in this catalog is the FOLR1 gene, which is responsible for the transport of folate (a form of vitamin B) from the bloodstream into the cells. Deficiency or changes in this gene can lead to folate deficiency and related health conditions.

OMIM provides additional resources such as scientific articles, databases, and registries related to genetic diseases. The catalog also includes references to PubMed articles and other sources of information.

For example, one article listed in the catalog is called “Variant folate receptor 1 (FOLR1) transport deficiency,” by Steinfeld et al. This article discusses the genetic disorder associated with FOLR1 gene deficiency and its effects on cerebral folate deficiency.

Users can access information on tests for folate deficiency, genetic tests for FOLR1 gene changes, and other resources related to cerebral folate deficiency from OMIM.

In summary, the Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and related genetic conditions. It serves as a valuable resource for researchers, clinicians, and individuals seeking information on genetic disorders and associated genes.

Gene and Variant Databases

The FOLR1 gene, also known as the folate receptor 1 gene, plays a crucial role in regulating the transport of folate, a vitamin that is essential for proper cell function and health. Mutations in this gene can lead to a condition called cerebral folate deficiency, which is characterized by a lack of folate in the bloodstream.

To better understand the genetic changes associated with FOLR1 and its related disorders, various databases and resources have been developed. These databases provide valuable information on the gene, its variants, and their association with different diseases and conditions.

Here are some of the important gene and variant databases that can be used for testing, research, and scientific articles:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information on the FOLR1 gene and its associated variants, along with references to scientific articles and other resources.
  • PubMed: PubMed is a database of scientific articles from various fields, including genetics. Searching for “FOLR1 gene” or related terms can provide additional information on the gene and its variants.
  • GeneTests: GeneTests is a comprehensive testing and registry resource for genetic disorders. It provides information on available genetic tests for FOLR1-related conditions, along with links to related genes and information.

These databases are valuable resources for understanding the genetic basis of FOLR1-related disorders and for conducting further research on this gene and its variants. They provide access to genetic information, scientific articles, and references that can help in diagnosis, treatment, and genetic counseling.

References

1. Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gartner J. Folate receptor alpha defect causes severe cerebral folate transport deficiency: A treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009;85(3):354-363.

2. Genetics Home Reference. FOLR1 gene. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/FOLR1. Accessed October 30, 2022.

3. OMIM. Folate receptor 1; FOLR1. Johns Hopkins University. Available at: https://omim.org/entry/136430. Accessed October 30, 2022.

4. National Organization for Rare Disorders (NORD). Cerebral Folate Deficiency. Available at: https://rarediseases.org/rare-diseases/cerebral-folate-deficiency/. Accessed October 30, 2022.

5. PubMed.gov. FOLR1 gene and cerebral folate receptor deficiency. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=FOLR1+gene+and+cerebral+folate+receptor+deficiency. Accessed October 30, 2022.

6. National Institutes of Health (NIH). Genetics Home Reference. About medical genetics. Available at: https://ghr.nlm.nih.gov/primer. Accessed October 30, 2022.

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