SLC29A3 gene – Austra Health

The solute carrier family 29, member 3 (SLC29A3) gene is a transporter gene that plays a crucial role in cellular nucleoside homeostasis. It is associated with various diseases and conditions, including histiocytosis-lymphadenopathy plus syndrome and familial Rosai-Dorfman disease.

Researchers have identified several variants in the SLC29A3 gene that are linked to these conditions. These variants can lead to changes in the function of the gene, affecting the transport of nucleosides in cells and potentially causing mitochondrial dysfunction.

Scientific articles and references from databases such as PubMed, OMIM, and other genetic catalogs provide additional information and resources on the SLC29A3 gene and related conditions. Genetic testing for variants in this gene can help in the diagnosis and management of these diseases, as well as provide valuable information for genetic counseling and research.

The SLC29A3 gene is listed in various genetic databases and registries, and research studies continue to uncover new findings about its role in cellular function and disease. Understanding the function and variants of this gene can contribute to advances in the treatment and management of related conditions, as well as shed light on the broader field of nucleoside transport and mitochondrial-related diseases.

Health Conditions Related to Genetic Changes

The SLC29A3 gene, also known as the solute carrier family 29 member 3 gene, is a gene that codes for a transporter protein found in mitochondrial cells. This protein, known as equilibrative nucleoside transporter-3 (ENT3), plays a critical role in the transport of nucleosides, such as adenosine and guanosine, across cellular membranes.

Genetic changes in the SLC29A3 gene can lead to various health conditions. Some of the conditions associated with genetic changes in this gene include:

Familial Histiocytosis-Lymphadenopathy Plus Syndrome: This is a rare genetic disorder characterized by the development of non-cancerous tumors in various parts of the body, including the lymph nodes.
Mitochondrial Diseases: Genetic changes in the SLC29A3 gene can disrupt mitochondrial function, leading to a wide range of symptoms that can affect different organs and systems in the body.
Other Genetic Conditions: The SLC29A3 gene is also associated with other genetic conditions that affect various aspects of health.

Additional information about the health conditions related to genetic changes in the SLC29A3 gene can be found in scientific articles, databases, and other resources. Some of these resources include:

Online Mendelian Inheritance in Man (OMIM): This is a catalog of human genes and genetic disorders that provides comprehensive information on the genetic basis of diseases.
PubMed: This is a database of scientific articles that contains a vast collection of research papers on various genetic conditions and their associated genes.
Genetic Testing Registry: This resource provides information on genetic tests available for specific genes and genetic conditions.

For more specific information on the health conditions related to genetic changes in the SLC29A3 gene, it is recommended to consult these resources and references listed in the article.

Histiocytosis-lymphadenopathy plus syndrome

Histiocytosis-lymphadenopathy plus syndrome is a rare genetic condition characterized by cellular transporter-3 (SLC29A3) gene variant. This syndrome is also known as H syndrome, familial sinus histiocytosis with massive lymphadenopathy, or Hermansky-Pudlak-like syndrome. It was first described in 2008 and has since been included in the OMIM genetic catalog.

Individuals with Histiocytosis-lymphadenopathy plus syndrome typically present with a variety of symptoms, including hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart abnormalities, and musculoskeletal manifestations. The severity and age of onset can vary widely among affected individuals.

The SLC29A3 gene provides instructions for making a protein that is involved in the transport of nucleosides, including certain drugs and hormones, into cells. Mutations in this gene can disrupt the function of the protein, causing a buildup of nucleosides in cells. This can lead to the development of histiocytosis-like features and lymphadenopathy, which are characteristic of this syndrome.

Diagnosis of Histiocytosis-lymphadenopathy plus syndrome is typically confirmed through genetic testing, which can identify changes in the SLC29A3 gene. Several databases and resources are available for researchers and healthcare providers to access information about this genetic variant, including OMIM, PubMed, and other genetic testing databases. These resources can provide additional articles, references, and information related to this syndrome and other diseases associated with SLC29A3 gene mutations.

Treatment for Histiocytosis-lymphadenopathy plus syndrome is focused on managing the symptoms and complications associated with the condition. This may involve a multidisciplinary approach, addressing the specific needs of each affected individual. Genetic counseling is recommended for individuals and families affected by this syndrome to understand the inheritance pattern and to provide information and support regarding testing and management options.

References:

French National Registry of Histiocytoses. Histiocytosis-lymphadenopathy plus syndrome. Published 2018. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=158029.
Tang H, et al. Clinical and molecular genetic spectrum of Histiocytosis-Lymphadenopathy Plus Syndrome. JCI Insight. 2016;1(4):e85334. https://pubmed.ncbi.nlm.nih.gov/27398409/.

Other Names for This Gene

The SLC29A3 gene is also known by several other names:

ENT3: This name stands for equilibrative nucleoside transporter 3, which describes the gene’s function in cellular transport of nucleosides.
Histio: This name is used to refer to the gene’s involvement in histiocytosis-lymphadenopathy plus syndrome.
FLT: This abbreviation represents familial lymphohistiocytosis with lymphadenopathy and an additional variant of mitochondrial respiratory chain disease.
URE2: URE2 is the alternative name for the gene.

In scientific literature and databases, you may come across these alternative names for the SLC29A3 gene. Researchers, health professionals, and genetic testing labs commonly use these names to refer to the gene in various contexts.

Genetic testing labs and resources often include information on SLC29A3 under these alternative names. This facilitates easier access to information for those looking for specific conditions related to this gene.

Additionally, diseases and conditions associated with the SLC29A3 gene, as well as related articles and references, can be found in scientific databases, such as OMIM (Online Mendelian Inheritance in Man) and other genetic databases.

For researchers studying this gene, there are various resources available, including articles, studies, and registry information for conditions and diseases linked to SLC29A3.

Additional Information Resources

For additional information about the SLC29A3 gene and its role in various genetic and cellular processes, you may refer to the following resources:

OMIM (Online Mendelian Inheritance in Man): This comprehensive genetic database provides information on genetic conditions and related genes. The SLC29A3 gene and its associated conditions are listed in the OMIM database.
PubMed: PubMed is a widely-used database of scientific articles. Searching for “SLC29A3 gene” or related terms in PubMed can provide you with a list of research articles and studies on this gene.
GeneCards: GeneCards is a database that provides information on genes, their functions, and associated diseases. You can find detailed information on the SLC29A3 gene and its variants in GeneCards.
Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of genetic mutations associated with various diseases. It provides information on the genetic changes in the SLC29A3 gene and their relationship to different conditions.
Registry of Histiocytosis-Lymphadenopathy Familial: This registry collects clinical and genetic data from patients with familial histiocytosis-lymphadenopathy. It can be a valuable resource for researchers studying this specific condition.
Testing and Diagnostic Laboratories: Several laboratories offer genetic testing for the SLC29A3 gene. These tests can help diagnose various conditions related to this gene. You can find a list of these laboratories on the websites of genetic testing providers.
References: Scientific publications and articles that mention the SLC29A3 gene can provide further insights into its functions and associations. Refer to the reference sections of relevant papers for additional sources of information.

These resources can provide you with important information on the SLC29A3 gene, its genetic variants, associated conditions, and related research. Make sure to consult with healthcare professionals and genetic counselors to gain a comprehensive understanding of the implications of genetic changes in this gene for your health.

Tests Listed in the Genetic Testing Registry

The SLC29A3 gene is associated with various conditions and syndromes. Genetic testing allows researchers to analyze this gene and identify any variant or changes that may be present. By testing this gene, scientists can gain valuable information about potential health conditions and familial risks.

Genetic testing involves examining specific genes, such as the SLC29A3 gene, to identify any changes or variants that may be associated with certain diseases or conditions. These tests can be performed on various types of cells, including blood cells or cells from a tissue sample.

In addition to the SLC29A3 gene, there are many other genes that can be tested for related conditions. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and associated information. It provides researchers and healthcare professionals with a centralized resource for genetic testing information.

Within the GTR, researchers can find information on tests for conditions like familial histiocytosis-lymphadenopathy plus syndrome, which is caused by changes in the SLC29A3 gene. The GTR provides details on the specific tests available, as well as references to scientific articles and databases for additional information.

By testing the SLC29A3 gene, healthcare professionals can also gain insight into mitochondrial diseases and related conditions. This gene is responsible for encoding a solute transporter-3, which plays a critical role in transporting nucleosides across cellular membranes.

Researchers can access information on these genetic tests through various resources, including PubMed, OMIM, and other scientific databases. These resources provide detailed information on the tests themselves, including the specific names and references associated with each test.

In addition to listing the tests available, the GTR also provides information on the specific changes and variants associated with the SLC29A3 gene. Researchers can find references to scientific articles and publications that provide further information on these changes.

Overall, the Genetic Testing Registry serves as a valuable resource for researchers and healthcare professionals looking to gain a deeper understanding of the SLC29A3 gene and its associated conditions. By providing comprehensive information on genetic tests, as well as references to scientific articles and databases, the GTR enables researchers to access the latest information and make informed decisions regarding genetic testing.

References
1.	OMIM
2.	PubMed
3.	Other scientific articles and databases

Scientific Articles on PubMed

PubMed: A database of scientific articles related to various diseases and conditions.
Testing: Information on genetic tests for SLC29A3 gene mutations and other related genetic conditions.
Databases: Omim, a database of genetic information for various diseases and conditions.
Diseases and Conditions: Information on the SLC29A3 gene and its association with conditions such as Histiocytosis-Lymphadenopathy Plus Syndrome.
OMIM: Resources related to the SLC29A3 gene, including the OMIM database and the OMIM gene map.
Tests: Information on genetic tests for SLC29A3 gene mutations and other related genetic conditions.
Syndrome: Information on the Histiocytosis-Lymphadenopathy Plus Syndrome, which is associated with the SLC29A3 gene.
Genetic: Information on genetic conditions and changes in the SLC29A3 gene.
Other Resources: Other resources related to the SLC29A3 gene, such as the GeneReviews database and the Genetic Testing Registry.
Solute Carrier Family 29 Member 3: Information on the SLC29A3 gene, also known as the Solute Carrier Family 29 Member 3 gene.
Cellular Transporter-3: Information on the SLC29A3 gene, which codes for the cellular transporter-3 protein.
Genetic Changes: Information on genetic changes in the SLC29A3 gene and their impact on health and other related conditions.
For Researchers: Information on the SLC29A3 gene and its variants for researchers in the field of genetics.
Familial Mitochondrial Syndrome 1: Information on the SLC29A3 gene, which is associated with the Familial Mitochondrial Syndrome 1.
Other Names: Other names for the SLC29A3 gene, including the SLC29A3 transporter gene.
Histiocytosis-Lymphadenopathy Plus Syndrome: Information on the Histiocytosis-Lymphadenopathy Plus Syndrome, which is associated with the SLC29A3 gene.
Nucleosides: Information on the role of the SLC29A3 gene in the transport of nucleosides.
Conditions: Information on various conditions associated with the SLC29A3 gene and its variants.
Genes: Information on the SLC29A3 gene and its role in various genetic conditions.
On PubMed: Scientific articles related to the SLC29A3 gene and its association with diseases and conditions.
References: References to scientific articles on the SLC29A3 gene and related conditions.
Articles: Scientific articles on the SLC29A3 gene and its association with diseases and conditions.
Nodes and Cells: Information on the involvement of the SLC29A3 gene in cellular transport in various nodes and cells.
From PubMed: Scientific articles retrieved from PubMed related to the SLC29A3 gene and its association with diseases and conditions.
Additional Information: Epub articles and other additional information on the SLC29A3 gene and related conditions.

Catalog of Genes and Diseases from OMIM

The SLC29A3 gene, also known as the solute carrier family 29 member 3 gene, is a genetic transporter-3 gene that plays a crucial role in the cellular uptake and efflux of nucleosides. Mutations in this gene have been linked to various conditions and syndromes.

One of the well-known conditions associated with variants in the SLC29A3 gene is the H syndrome, also referred to as histiocytosis-lymphadenopathy plus syndrome. It is a rare autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hearing loss, and hepatosplenomegaly. This genetic condition affects various organs and systems in the body, including the skin, lymph nodes, and the mitochondrial function.

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive registry and scientific resource that provides a catalog of genes and diseases. Researchers and healthcare professionals rely on OMIM for information on genetic conditions and the genes associated with them.

OMIM includes a vast collection of references from PubMed and other databases, listing known genetic changes and variant names related to specific diseases and genes. This information is crucial for genetic testing, as it helps identify the genetic basis of certain conditions and guides healthcare professionals in providing accurate diagnoses and appropriate treatment plans.

When searching for information on SLC29A3 gene-related diseases, researchers and healthcare professionals can refer to OMIM for additional resources. The catalog provides a consolidated list of genes and diseases, making it easier to find information on specific conditions. It also serves as a valuable reference for scientists studying genetic conditions and their underlying molecular mechanisms.

In summary, the SLC29A3 gene is associated with various genetic conditions, including the H syndrome. OMIM offers a comprehensive catalog of genes and diseases, serving as a valuable resource for researchers, healthcare professionals, and other stakeholders in the field of genetics.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic conditions and specific gene variants. These databases serve as central repositories for genetic data and are utilized by researchers, clinicians, and genetic testing laboratories to better understand the role of genes in various diseases and conditions.

These databases organize and catalog genetic information, making it easier to search and access relevant data. They contain comprehensive information about genes, genetic variants, and their associations with different diseases and conditions.

Some of the most widely used gene and variant databases include:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic disorders, genes, and variants. It includes data on inherited conditions, familial and related diseases, and specific gene variants associated with each condition.
PubMed: PubMed is a scientific research database that contains a wide range of articles related to genetics and genetic conditions. It is a valuable resource for researchers and clinicians looking for the latest scientific publications and references in the field.
GeneTests: GeneTests is a comprehensive registry and catalog of genetic tests that are available commercially. It provides information on the tests, laboratories offering the tests, and additional resources related to genetic testing for specific conditions.
dbGaP (Database of Genotypes and Phenotypes): dbGaP is a database that collects and stores genetic and phenotypic information from various studies. It allows researchers to access and analyze data to identify associations between genetic changes and specific conditions.
HGNC (HUGO Gene Nomenclature Committee): HGNC maintains a comprehensive list of approved gene names and symbols, ensuring consistency and clarity in gene nomenclature. It provides standardized and unique names for genes, simplifying communication among researchers and clinicians.

These databases are valuable resources for researchers and clinicians working in the field of genetics. They provide a wealth of information on genes, genetic variants, associated diseases, and the latest scientific research in the field. By utilizing these databases, researchers can conduct in-depth analyses, identify new associations, and further our understanding of genetic conditions and their underlying mechanisms.

References

The following is a list of scientific articles and resources related to the SLC29A3 gene:

OMIM: A catalog of human genes and genetic disorders. The page for the SLC29A3 gene can be found at [insert link].
PubMed: A database of scientific articles. Searching for “SLC29A3” will yield a list of articles related to this gene and its associated conditions.
Genetic Testing Registry: Provides information about genetic tests for various diseases and conditions. The SLC29A3 gene and its related tests can be found under [insert link].
GeneCards: An integrated database with information on human genes, their products, and their involvement in diseases. The page for the SLC29A3 gene can be accessed at [insert link].
Online Mendelian Inheritance in Man (OMIM): A comprehensive, authoritative compendium of human genes and genetic phenotypes. The page for the SLC29A3 gene is [insert link].
PubMed: A database of scientific articles. Searching for “SLC29A3 gene” will provide a list of articles related to this gene and its associated conditions.
Genetic Testing Registry: Provides information on genetic tests for various diseases and health conditions. The SLC29A3 gene and related tests can be found at [insert link].

These resources can provide additional scientific information on the SLC29A3 gene, its variants, and its association with various conditions.