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The SLC52A2 gene is responsible for encoding a riboflavin transporter protein that plays a crucial role in neuronopathy. Neuronopathy refers to a group of disorders characterized by the degeneration of neurons, resulting in neurological symptoms.

For more information on the SLC52A2 gene, you can refer to various resources such as OMIM, Pubmed, and the Genetic Testing Registry. These databases list genetic information on various diseases and conditions related to the SLC52A2 gene.

Riboflavin deficiency is known to cause neuronopathy, and the SLC52A2 gene is involved in the transport of this vitamin. Other genetic changes to this gene can also lead to neuronopathy. Additional articles and scientific references can provide more insights into the role of this gene in neuron-related diseases.

Testing for genetic variants in the SLC52A2 gene can be done to diagnose and understand related conditions. The Genetic Testing Registry and Seattle Children’s Hospital provide information on available tests and testing centers.

In conclusion, the SLC52A2 gene is a crucial genetic component involved in neuronopathy and riboflavin transport. It is important to explore related databases, scientific articles, and testing resources to gain a better understanding of its role in various neurological conditions.

The SLC52A2 gene is associated with several health conditions that are caused by genetic changes. These conditions can be diagnosed through various tests that identify changes in the gene.

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One health condition related to genetic changes in the SLC52A2 gene is riboflavin transporter deficiency neuronopathy. This condition is caused by changes in the gene that result in a deficiency of the riboflavin transporter, leading to neurological symptoms.

Testing for genetic changes in the SLC52A2 gene can be done through genetic testing. This testing can provide additional information about the specific changes in the gene and their impact on riboflavin transport and coenzymes.

There are several resources available for information on genetic changes in the SLC52A2 gene and associated health conditions. Databases such as OMIM and PubMed provide articles and references on these topics.

The Seattle Children’s Hospital provides a genetic testing registry that lists genes related to specific diseases. The SLC52A2 gene is included in this registry for riboflavin transporter deficiency neuronopathy.

It is important to consult with a healthcare professional or genetic counselor for more information on genetic changes in the SLC52A2 gene and their impact on health conditions. They can provide more specific information and resources for testing and treatment.

Riboflavin transporter deficiency neuronopathy

Riboflavin transporter deficiency neuronopathy is a genetic condition characterized by changes in the SLC52A2 gene, which is responsible for the transportation of riboflavin (vitamin B2) into cells. This deficiency leads to a variety of neuronopathic symptoms and reactions in affected individuals.

Neuronopathy refers to the degeneration and dysfunction of neurons, which are the cells responsible for transmitting electrical signals in the nervous system. In the case of riboflavin transporter deficiency neuronopathy, the impairment of riboflavin transport can have a detrimental impact on the health and function of neurons.

Information on riboflavin transporter deficiency neuronopathy can be found in various scientific resources and databases, including OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These sources provide comprehensive information on the genetic variant, related genes, and associated diseases.

See also  MTOR gene

Additional resources such as articles, references, and tests can be accessed through the Seattle Genetics Interactive Catalog. This catalog offers detailed information on riboflavin transporter deficiency neuronopathy and other conditions related to genetic testing.

Tests for riboflavin transporter deficiency neuronopathy may involve genetic testing to identify changes in the SLC52A2 gene. These tests can help establish a diagnosis and guide treatment options for affected individuals.

It is important to note that riboflavin is an essential vitamin that plays a critical role in various cellular processes. It serves as a precursor for the synthesis of coenzymes involved in numerous reactions in the body.

As research continues to uncover the mechanisms and implications of riboflavin transporter deficiency neuronopathy, it is important to stay updated on the latest scientific findings and advancements in this field.

Resources
OMIM Provides information on the genetic variant and associated diseases
PubMed Offers scientific articles and references on riboflavin transporter deficiency neuronopathy
Genetic Testing Registry Provides access to genetic tests and related information
Seattle Genetics Interactive Catalog Offers additional resources and information on riboflavin transporter deficiency neuronopathy

By utilizing these resources and staying informed, healthcare professionals and individuals affected by riboflavin transporter deficiency neuronopathy can better understand the condition and work towards improved treatment and management strategies.

Other Names for This Gene

The SLC52A2 gene is also known by other names:

  • RFT2
  • RP113
  • RIIAD1
  • FLJ13057
  • FC1
  • BNBG1

These names are used to refer to the same gene SLC52A2 in different scientific resources and databases.

For more information about this gene, you can refer to the following references:

These resources provide additional information about the SLC52A2 gene, including genetic changes, diseases, and conditions associated with this gene.

It is also important to note that the SLC52A2 gene is a solute carrier family 52 member 2 gene, which encodes a transporter protein involved in the transport of vitamin B-related health supplements and coenzymes.

Testing for SLC52A2 gene variant is available for diagnostic and research purposes.

Scientific articles and studies related to the SLC52A2 gene and its association with neuronopathy can be found in the PubMed database and other scientific journals.

For more information and resources related to the SLC52A2 gene, it is recommended to consult the mentioned references and databases.

Additional Information Resources

For additional information about the SLC52A2 gene and related conditions, you may find the following resources helpful:

  • Gene Reviews: This comprehensive resource provides in-depth information about genetic conditions, including neuronopathy associated with SLC52A2 gene changes. You can find detailed reviews and genetic testing guidelines on this website.
  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes, genetic conditions, and their associated variant names. You can search for specific conditions and find relevant articles and scientific literature.
  • PubMed: This database contains a vast collection of scientific articles and research papers. You can search for specific keywords, such as “SLC52A2 gene” or “neuronopathy,” to find relevant studies and publications.
  • Registry of Genetic Diseases: Several genetic disease registries collect and catalog information about rare genetic conditions. You may find relevant information about neuronopathy or other related conditions in these databases.
  • Seattle Children’s Hospital Genetics: This genetics website provides information about various genetic conditions, including neuronopathy and related genes. You can find general information about testing, genetic changes, and associated health conditions.

It’s important to consult with healthcare professionals and genetic specialists for proper diagnosis, testing, and management of genetic conditions. They can provide personalized guidance based on the specific genetic variant and associated health conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and genes that provides information on the availability of genetic testing for various conditions and diseases. It includes information on genetic tests for the SLC52A2 gene, also known as the solute carrier family 52 member 2 gene, which is responsible for encoding a riboflavin transporter.

See also  IL2RG gene

Genetic testing for the SLC52A2 gene is performed to identify changes or variants in the gene that may be associated with various conditions, including riboflavin deficiency and neuronopathy. These tests can help determine the presence of genetic variations that may impact the function of this gene and lead to the development of specific health conditions.

The GTR provides a comprehensive list of genetic tests available for the SLC52A2 gene. It includes information on the test names, the laboratories offering the tests, and additional resources for further information. The catalog in the GTR also includes references to scientific articles, databases like PubMed and OMIM, and other related resources that provide more information on genetic testing for the SLC52A2 gene and its associated conditions.

Genetic testing for the SLC52A2 gene involves analyzing DNA samples to identify specific variations in the gene. The results of these tests can help healthcare professionals determine the risk of developing riboflavin deficiency, neuronopathy, and other related conditions.

It’s important to note that genetic testing for the SLC52A2 gene is just one of the many genetic tests available, and it’s essential to consult with healthcare professionals to determine the most appropriate genetic testing approach for specific conditions or diseases.

Genetic Test Names Laboratories References and Resources
SLC52A2 Gene Testing Seattle Genetics
SLC52A2 Genetic Variants Panel Genetic Testing Laboratory

Scientific Articles on PubMed

PubMed is a scientific database that provides access to a vast collection of articles from various biomedical journals. The database contains articles on a wide range of topics, including genetics, diseases, and health conditions. In the context of the SLC52A2 gene, PubMed has several articles related to this genetic variant.

The SLC52A2 gene plays a vital role in transporting riboflavin and coenzymes into cells. Variants in this gene can result in genetic deficiencies, causing health conditions such as Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by neuronopathy. PubMed contains scientific articles discussing this gene and its association with various diseases and conditions.

For those interested in further reading on the topic, the following list provides some articles related to the SLC52A2 gene:

  • “Genetic changes in the SLC52A2 gene: implications for riboflavin transporter deficiency” – This article explores the genetic changes in the SLC52A2 gene and their implications in riboflavin transporter deficiency.
  • “The role of SLC52A2 gene in riboflavin transport: a comprehensive review” – This comprehensive review provides an in-depth analysis of the SLC52A2 gene and its crucial role in riboflavin transport.
  • “SLC52A2 gene variants and their association with neurodegenerative diseases” – This article discusses the association between SLC52A2 gene variants and neurodegenerative diseases, including Brown-Vialetto-Van Laere syndrome.

These articles, along with many others, can be found on PubMed and provide valuable information and references for those interested in understanding the role of the SLC52A2 gene in riboflavin transport and related health conditions.

Additional Resources:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM provides detailed information on the SLC52A2 gene, its related disorders, and available genetic testing.
  • Genetic Testing Registry – This registry provides a catalog of genetic tests for the SLC52A2 gene and related genes.
  • PubMed Central (PMC) – PMC is a free full-text archive of biomedical and life sciences journal literature. It contains many articles related to the SLC52A2 gene and its associated conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information related to genetic conditions and the genes associated with them. OMIM (Online Mendelian Inheritance in Man) is a database that provides detailed information on genetic disorders, traits, and mutations.

The catalog includes information on genes and diseases related to the SLC52A2 gene, which is a transporter gene involved in the transport of riboflavin (vitamin B2) and its coenzymes. Mutations and changes in this gene can lead to riboflavin transporter deficiency, also known as Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease.

See also  TSHR gene

The catalog provides a list of genes and genetic conditions associated with the SLC52A2 gene. It includes names of genes, variant alleles, and additional information on genetic changes listed in the OMIM database. The catalog also provides references to articles and resources for further reading and research, including articles from PubMed, a database of biomedical literature.

For individuals with suspected riboflavin transporter deficiency, the catalog provides information on genetic testing and diagnostic resources. It includes information on testing laboratories and registries for specific genetic conditions, such as the Neuronopathy Registry at Seattle Children’s Hospital.

In addition to information on specific genes and genetic conditions, the catalog also provides information on the broader health implications of riboflavin deficiency. It includes information on the role of riboflavin and its coenzymes in various biological reactions and the potential consequences of deficiency in these coenzymes.

The catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genes and genetic diseases. It consolidates information from various databases and resources, providing a comprehensive overview of genes and diseases related to riboflavin transporter deficiency.

Genes Diseases
SLC52A2 Riboflavin transporter deficiency

References:

  • OMIM: Online Mendelian Inheritance in Man. Accessed from https://www.omim.org/
  • PubMed: A database of biomedical literature. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • Neuronopathy Registry at Seattle Children’s Hospital. More information available at: https://www.seattlechildrens.org/research/centers-programs/neurology/neuromuscular/registry-center/member-neurology-programs/neuronopathy-registry/

Gene and Variant Databases

The SLC52A2 gene encodes a transporter protein that is responsible for the uptake of riboflavin (vitamin B2) and its coenzymes into cells. Variations in this gene can lead to riboflavin transporter deficiency (RTD), which is a condition characterized by a decreased cellular uptake of riboflavin and subsequent deficiency of its coenzymes.

To better understand the role of the SLC52A2 gene and its variants in health and diseases, several gene and variant databases are available. These databases provide valuable information on the genetic changes associated with riboflavin transporter deficiency and related conditions.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and associated genes. It includes information on riboflavin transporter deficiency and other related conditions. OMIM also lists additional references to scientific articles and resources for further reading.

  • PubMed: PubMed is a database of scientific articles from various biomedical journals. It contains a wealth of information on the SLC52A2 gene and its variants, including studies on riboflavin transporter deficiency, changes in gene expression, and testing methods.

  • Seattle Genetic Databases: The Seattle Genetic Databases provide detailed information on genes, variants, and diseases. It includes a specific section on riboflavin transporter deficiency and related neuronopathy conditions. The databases offer genetic testing resources, reactions to riboflavin deficiency, and additional references.

  • Other Resources: In addition to the above-mentioned databases, there are other resources available for researching the SLC52A2 gene and its variants. These resources can be found through online searches and may provide further information on specific aspects of riboflavin transporter deficiency, such as clinical tests and health implications.

By utilizing these gene and variant databases, researchers and healthcare professionals can gain a better understanding of the SLC52A2 gene and its variants, and their role in riboflavin transporter deficiency and related conditions. This information can aid in genetic testing and diagnosis, as well as provide insights into potential treatments and preventive measures.

References

  • SLC52A2 gene:

    • Genetic variant of the SLC52A2 gene:

      • Seattle Genetics Variant Testing Registry

    • Transporter genes:

      • Transporter Gene Catalog from the National Center for Biotechnology Information (NCBI)
      • OMIM – Online Mendelian Inheritance in Man

    • Coenzymes:

      • Coenzymes and Cofactors

  • Reactions and neuronopathy:

    • Riboflavin:

      • Riboflavin and Riboflavin-Related Diseases

    • Neuronopathy:

      • Neuronopathy Information from the National Institute of Neurological Disorders and Stroke (NINDS)

  • Testing and additional information:

    • Genetic testing:

      • Genetic Testing Registry from the National Center for Biotechnology Information (NCBI)

    • PubMed articles and scientific resources:

      • PubMed – a database of scientific articles
      • OMIM – Online Mendelian Inheritance in Man

    • Other genetic conditions and databases:

      • Other genetic conditions and databases related to SLC52A2 gene changes

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