The SLC52A3 gene, also listed as C20orf54, is responsible for encoding a protein that is necessary for the transport of vitamin B2 (riboflavin) into cells. This gene is involved in several important physiological reactions, including the production of coenzymes that are essential for various metabolic pathways in the body. Changes in this gene can lead to riboflavin transporter deficiency, a condition characterized by the inability to effectively absorb and transport riboflavin into cells.

In addition to its role in riboflavin transport, the SLC52A3 gene has also been linked to other health conditions and diseases. Scientific articles and studies have identified genetic variants in this gene that are associated with various neurological disorders, including a specific form of neuronopathy. These findings highlight the importance of the SLC52A3 gene in maintaining overall neuronal health.

Information about the SLC52A3 gene, its related genetic variants, and their implications for health can be found in various scientific databases, including OMIM and PubMed. These resources provide valuable references and additional articles for further reading on this topic. Genetic testing, including specific tests for variants in the SLC52A3 gene, may be available through specialized laboratories and clinics that offer genetic testing. The inclusion of this gene in the registry of genetic tests and the catalog of genetic diseases underscores its significance in clinical practice and research.

Health Conditions Related to Genetic Changes

In the context of the SLC52A3 gene, certain genetic changes can have an impact on a person’s health. These genetic changes, also known as variants, can play a role in the development of various health conditions. Here, we list some of the health conditions related to genetic changes in the SLC52A3 gene:

• Riboflavin Transporter Deficiency Neuronopathy: Genetic changes in the SLC52A3 gene can lead to a deficiency in riboflavin, a vitamin B2. This deficiency can cause neuronopathy, which is a condition affecting the nervous system.

Additional health conditions related to genetic changes in other genes involved in riboflavin transport and coenzymes reactions are listed in the OMIM database.

To understand the specific genetic changes and their impact on health, genetic testing may be necessary. These tests can detect variants in the SLC52A3 gene and other related genes.

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For more information on these health conditions and genetic changes, scientific articles and references can be found in PubMed and other scientific databases.

Resources like the OMIM database and genetic testing laboratories can provide further information on genetic changes and related health conditions.

Riboflavin transporter deficiency neuronopathy

Riboflavin transporter deficiency neuronopathy is a genetic condition related to the SLC52A3 gene, which plays a crucial role in the transportation of riboflavin (vitamin B2) into cells. Riboflavin is an essential nutrient that is involved in numerous reactions in the body, including energy production, the metabolism of carbohydrates, fats, and proteins, and the synthesis of certain coenzymes.

Individuals with riboflavin transporter deficiency neuronopathy have mutations in the SLC52A3 gene, resulting in the reduced or altered function of the protein responsible for transporting riboflavin into cells. As a result, these individuals cannot efficiently absorb riboflavin from their diet, leading to a deficiency in this essential vitamin.

The symptoms of riboflavin transporter deficiency neuronopathy can vary widely and may include muscle weakness, sensory abnormalities, seizures, developmental delay, intellectual disability, and vision problems. The severity and progression of the condition can also be highly variable, even among individuals with the same genetic mutations.

Diagnosis of riboflavin transporter deficiency neuronopathy typically involves genetic testing to identify changes or variants in the SLC52A3 gene. Additional tests may be performed to assess riboflavin levels and evaluate the function of the riboflavin transporter protein. These can include blood tests, urine tests, and functional assays.

Management of riboflavin transporter deficiency neuronopathy focuses on the supplementation of riboflavin to correct the deficiency. High-dose riboflavin supplements are typically prescribed to these individuals, which can help alleviate some of the associated symptoms and improve their overall health.

For more information about riboflavin transporter deficiency neuronopathy, including resources for genetic testing, scientific articles, and databases, refer to the following sources:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of genetic conditions: https://www.omim.org/
• The Genetic Testing Registry – a central database of genetic tests and testing laboratories: https://www.ncbi.nlm.nih.gov/gtr/
• PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/

References:

1. Ho G, et al. (2011). Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol. 69(3): 509-520.
2. Johnson JL, et al. (2012). Identification of a human mutation of the SLC52A3 riboflavin transporter in a patient with Brown-Vialetto-Van Laere syndrome using massively parallel sequencing. J Inherit Metab Dis. 35(6): 973-977.
3. Bosch AM, et al. (2015). Response to riboflavin in a severe phenotype of MADD. Mol Genet Metab Rep. 3: 30-32.

Other Names for This Gene

The SLC52A3 gene is also known by other names:

• Vitamin B2 transporter
• Vitamin B2 transporter family member 3

These names reflect the role of this gene in the transport of vitamin B2 (riboflavin). Vitamin B2 is essential for various metabolic reactions and functions as a precursor for the cofactors flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are required by a variety of enzymes involved in energy production and other cellular processes.

Deficiency or genetic changes in the SLC52A3 gene can lead to various health conditions, including riboflavin transporter deficiency neuronopathy (RTDN), which is characterized by neurological symptoms. Changes in the SLC52A3 gene have also been associated with other diseases and conditions listed on various scientific resources and databases, such as OMIM, PubMed, and Genetests.

If you are interested in testing or more information about the SLC52A3 gene and related conditions, you can consult these resources and references.

These resources can provide more information about the SLC52A3 gene, its variants, and the role it plays in various diseases and conditions.

Additional Information Resources

For additional information about the SLC52A3 gene and related conditions, you may find the following resources helpful:

• Genetics Home Reference: This website provides information on the SLC52A3 gene, its role in health and disease, and related genes and conditions.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The SLC52A3 gene and associated neuronopathy are listed in the database.
• PubMed: PubMed is a database of scientific articles. You can search for articles on the SLC52A3 gene, its functions, and its role in various diseases.
• Genetic Testing Registry (GTR): GTR provides information about genetic tests for the SLC52A3 gene, including available tests and laboratories offering testing services.

In addition, it is important to consult with a healthcare professional or genetic counselor for personalized information and guidance. They can provide further information on testing options, available treatments, and management strategies for this condition.

Tests Listed in the Genetic Testing Registry

The SLC52A3 gene is responsible for encoding the protein known as riboflavin transporter 2. Deficiency in this gene can lead to a variety of reactions or other conditions related to riboflavin, a vitamin that is essential for proper cell function.

In the Genetic Testing Registry, there are various tests listed that can help diagnose deficiencies or diseases related to the SLC52A3 gene.

These tests include:

• Vitamin B2 (riboflavin) Transporter Deficiency Neuronopathy
• Testing for Changes in the SLC52A3 Gene

Additional information can be found in scientific articles and resources on genetics, health, and testing. The Genet database is a useful resource for finding references and articles related to these tests.

It is important to note that the catalog of genes and variants listed in the Genetic Testing Registry cannot include all known genes and variants. The registry provides resources for testing related to the SLC52A3 gene, but additional testing may be required for other related proteins or coenzymes.

For more information on these tests and related genes, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource.

Scientific Articles on PubMed

PubMed is a widely used online database that contains a vast collection of scientific articles related to health and genetics. It provides valuable information on various topics including the SLC52A3 gene and its role in different diseases and conditions.

The SLC52A3 gene belongs to a family of genes that encode transporter proteins involved in the transport of riboflavin, a crucial vitamin required for numerous biochemical reactions in the body. Changes or mutations in the SLC52A3 gene can lead to deficiency of riboflavin and result in various health problems.

The PubMed database lists several scientific articles discussing the SLC52A3 gene and its variants. These articles provide additional information on the role of this gene in riboflavin transporter deficiency and related conditions such as neuronopathy. They also highlight the genetic testing methods and diagnostic tests available for these conditions.

Researchers and scientists often use PubMed to access the latest research articles and stay updated with the advancements in the field of genetics. The database offers a comprehensive catalog of articles that can be searched using specific keywords, including gene names, diseases, and related topics.

In addition to PubMed, there are also other resources and databases available for accessing scientific articles and references on the SLC52A3 gene and related topics. These resources provide a wealth of information on the genetic basis of diseases and conditions, as well as the proteins and coenzymes involved in specific biochemical reactions.

Overall, PubMed is a valuable tool for researchers, healthcare professionals, and anyone interested in exploring the scientific literature on the SLC52A3 gene and its role in health and disease. It serves as a reliable source of information for understanding the genetic basis of various conditions and exploring potential treatments and interventions.

Catalog of Genes and Diseases from OMIM

Genes and Diseases:

The catalog contains information on genes associated with various diseases and conditions. It lists the genes and their corresponding OMIM IDs, gene names, and related information. For example, the SLC52A3 gene is associated with a deficiency in riboflavin transporter.

Role of Genes and Proteins:

OMIM provides scientific articles and references that discuss the role of genes and proteins in diseases. These resources offer additional information on the genetic changes, variants, and tests associated with specific conditions. For example, OMIM contains articles on the role of the SLC52A3 gene in riboflavin transporter deficiency and its impact on neuronopathy.

Testing and Catalog of Variants:

The catalog includes information on genetic testing, such as DNA tests, to identify variants and changes in specific genes. It also provides a registry of genetic tests and their associated OMIM IDs. For example, DNA tests for the SLC52A3 gene can help diagnose riboflavin transporter deficiency.

Related Databases and Resources:

OMIM references other databases and resources that provide additional information on genes and diseases. These include PubMed, a database of scientific articles, as well as genet and health-related databases. These resources can be valuable in further researching specific genes and diseases.

In conclusion, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information on the role of genes in various conditions. It offers scientific articles, testing information, and references to other resources, making it an essential tool for genetic researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

Gene and Variant Databases

Genetic information plays a crucial role in understanding and diagnosing various health conditions. Gene and variant databases provide a comprehensive catalog of genetic changes and their associated diseases and conditions. These databases compile scientific articles, studies, and testing information related to genes and their role in diseases.

One such gene is SLC52A3, which encodes a riboflavin transporter protein. Riboflavin, also known as vitamin B2, is essential for various cellular reactions and coenzymes. Deficiency in SLC52A3 can lead to a condition called Brown-Vialetto-Van Laere syndrome, characterized by neuronopathy and other neurological symptoms.

Gene and variant databases list the names and references of relevant articles, studies, and resources related to SLC52A3 and other genes. They also provide information on genetic testing and variant registries, where individuals can find additional information and resources.

Some popular gene and variant databases include the Online Mendelian Inheritance in Man (OMIM), PubMed, and the Genetic Testing Registry (GTR). These databases allow researchers, healthcare professionals, and individuals to access the latest information on genes, variants, and related conditions. They serve as valuable resources for understanding the genetic basis of diseases and developing targeted treatments.

These gene and variant databases are valuable tools for researchers, healthcare professionals, and individuals seeking information about genetic conditions. They provide a centralized and accessible platform for navigating the rapidly evolving field of genetics and its impact on human health.

References

• Variant SLC52A3 gene: This gene encodes for a protein that acts as a transporter for coenzymes, including riboflavin.
• Genes: Other genes related to SLC52A3 include SLC52A1 and SLC52A2.
• Genetic testing: Testing for changes in the SLC52A3 gene can help diagnose conditions such as SLC52A3 deficiency and neuronopathy.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders and the genes involved, including SLC52A3.
• PubMed: PubMed is a scientific database where you can find articles on the role of the SLC52A3 gene in various diseases and conditions.
• Registry and catalog: The registry and catalog of genetic conditions and genes provides additional information on SLC52A3-related disorders.
• Related resources: Various databases and resources are available for further information on the SLC52A3 gene and related conditions.