SLC2A10 gene – Austra Health

The SLC2A10 gene is a genetic transporter that is involved in the development and maintenance of the arterial system. It plays a crucial role in the growth and tortuosity of arteries in the body. Mutations in this gene have been found to be associated with a rare genetic disorder known as arterial tortuosity syndrome (ATS).

ATS is characterized by abnormal changes in the structure and function of the arteries, which can lead to various health conditions. The exact mechanisms through which mutations in the SLC2A10 gene cause these changes are still unclear, but scientific articles and resources listed in the Online Mendelian Inheritance in Man (OMIM) database provide valuable insights.

Testing for mutations in the SLC2A10 gene can be done through genetic tests and variant registries. These tests can help in the diagnosis and identification of ATS and related disorders. Additionally, other databases such as PubMed and the Genetic Testing Registry (GTR) offer further references and resources for genetic testing and research on this gene.

The SLC2A10 gene, also known by other names such as GLUT10, is part of a larger system of genes and proteins involved in solute transport. Its role in the development and maintenance of the arterial system highlights its importance in maintaining proper cardiovascular health. Further research and testing are necessary to fully understand its function and its implications in related diseases.

Health Conditions Related to Genetic Changes

In the study of the SLC2A10 gene, researchers have identified various health conditions that are related to genetic changes in this gene. These changes can have significant impacts on the body’s growth and development, leading to the development of different diseases and disorders.

Scientific databases and resources have been used to gather information on these health conditions. This includes databases such as Genet, PubMed, OMIM, and additional scientific articles and references. These resources provide a comprehensive catalog of genetic changes and related conditions.

One of the health conditions related to genetic changes in the SLC2A10 gene is arterial tortuosity syndrome. This is a genetic disorder that affects the body’s arteries, causing them to become more twisted and elongated than usual. This can lead to various health problems, including cardiovascular issues.

An additional health condition related to genetic changes in the SLC2A10 gene is Glut10 deficiency syndrome. This disorder affects the body’s ability to transport glucose across cell membranes, leading to problems with glucose metabolism. This can result in symptoms such as skin abnormalities and growth issues.

Testing for genetic changes in the SLC2A10 gene can be done to diagnose these health conditions. Genetic testing can help identify specific variants and changes in the gene that are related to these disorders. This information can be used for proper diagnosis, treatment, and management of these conditions.

It is important to note that there may be other health conditions related to genetic changes in the SLC2A10 gene that are not listed within this article. This is because the field of genetics is constantly evolving, and new discoveries are being made. It is recommended to consult scientific databases, articles, and medical professionals for the most up-to-date information on genetic changes and related conditions.

In conclusion, genetic changes in the SLC2A10 gene can lead to various health conditions and disorders. Testing for these changes and understanding their impact on the body is crucial for accurate diagnosis and treatment. By utilizing scientific resources and databases, researchers can continue to expand their knowledge of these genetic changes and improve health outcomes for individuals affected by these conditions.

Arterial tortuosity syndrome

Arterial tortuosity syndrome is a genetic disorder characterized by the abnormal twisting and lengthening of arteries in the body. This condition is caused by mutations in the SLC2A10 gene, which encodes a glucose transporter known as GLUT10.

Individuals with arterial tortuosity syndrome often experience additional health problems, including skin disorders, growth delays, and other cardiovascular conditions. The exact mechanism by which mutations in the SLC2A10 gene lead to these symptoms is still unclear.

Genetic testing for arterial tortuosity syndrome can be performed to identify mutations in the SLC2A10 gene. This testing can help diagnose individuals with suspected cases of arterial tortuosity syndrome and provide information for genetic counseling.

References on arterial tortuosity syndrome can be found in various scientific databases, including OMIM, PubMed, and Genet. These resources provide a wealth of genetic information on the disease, related genes, and other conditions associated with arterial tortuosity syndrome.

The Arterial Tortuosity Syndrome Registry is a catalog of individuals with the disorder, and it serves as a central resource for researchers studying the condition. The registry collects and maintains clinical and genetic data, facilitating collaborative research efforts and providing support for affected individuals and their families.

Research articles on arterial tortuosity syndrome and related disorders can be found in scientific journals. These articles contribute to our understanding of the molecular mechanisms underlying the disease and potential treatment options.

In summary, arterial tortuosity syndrome is a genetic disorder characterized by the abnormal twisting and lengthening of arteries in the body. It is caused by mutations in the SLC2A10 gene, which encodes the glucose transporter GLUT10. The exact mechanisms by which these mutations lead to symptoms are still unclear, but ongoing research continues to shed light on this rare condition.

Other disorders

In addition to arterial tortuosity syndrome, mutations in the SLC2A10 gene have been found to be associated with various other disorders.

Glut1 deficiency syndrome: This autosomal dominant disorder is characterized by impaired glucose transport across the blood-brain barrier. The SLC2A10 gene is one of the several genes listed in the registry for genetic testing for this disorder.
Colombi syndrome: This rare genetic disorder affects connective tissue and is characterized by a variety of symptoms, including arterial tortuosity. Mutations in the SLC2A10 gene have been found to be associated with this syndrome.
Other genetic disorders: The exact role of SLC2A10 gene mutations in other genetic disorders is unclear, but they have been implicated in diseases such as Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and other related connective tissue disorders.

Other Names for This Gene

GLUT10 solute carrier family 2 member 10 gene
TGFBETA-induced factor gene
SLC2A10 gene
Glucose transporter 10 gene
Glut 10 gene
Glucose transporter GLUT10 gene
TGFBI induced factor gene
GLUT-10 solute carrier family 2 (facilitated glucose transporter), member 10 gene
Facilitated glucose transporter member 10 gene

These are the other names that the SLC2A10 gene is known by. It is associated with various disorders and conditions. The gene is involved in the transport of glucose and is also related to growth and arterial changes. It has been implicated in diseases such as arterial tortuosity syndrome. Additional information on this gene can be found in scientific articles, databases, and genetic testing resources. The exact role of the SLC2A10 gene in these disorders is still unclear, but research and studies are ongoing to understand its function and significance.

Additional Information Resources

Here are some additional resources for further information on the SLC2A10 gene and related disorders:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of human diseases. The OMIM entry for the SLC2A10 gene (OMIM: 606145) includes information on the gene, its associated disorders, and related scientific articles.
The Human Gene Mutation Database (HGMD): HGMD is a database that catalogues published mutations in human genes associated with genetic disorders. The HGMD entry for the SLC2A10 gene lists genetic changes and associated disorders.
PubMed: PubMed is a free database of scientific articles. Searching for “SLC2A10 gene” or specific keywords related to the gene or its associated disorders can provide more information on the latest research and findings.
Genetic Testing Registry (GTR): GTR is a centralized online resource that provides information on genetic tests for a variety of conditions. The GTR entry for the SLC2A10 gene includes information on available genetic tests, laboratories offering testing, and test utilization.
The Human Variome Project (HVP): HVP is an international effort to collect and share genetic variation information on all human genes. The HVP website provides resources for researchers and clinicians interested in genetic variation in the SLC2A10 gene.

These resources can help you find more information on the SLC2A10 gene, its associated disorders, genetic testing options, and related scientific articles. It is important to consult with healthcare professionals and genetic counselors to understand the implications of any genetic testing or genetic variation.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for diseases and conditions. It catalogs the variants in genes associated with various disorders and provides references to scientific articles and other resources related to genetic testing.

In the context of the SLC2A10 gene, there are tests listed in the GTR that focus on specific variants and related diseases:

Arterial tortuosity syndrome: This disorder is caused by changes in the SLC2A10 gene. The tests listed in the registry can help in diagnosing this condition.
Growth and skeletal disorders: The SLC2A10 gene is also associated with growth and skeletal disorders. The tests listed in the GTR can provide information on the variants within this gene that are related to these conditions.
Other arterial diseases: The SLC2A10 gene has implications in other arterial diseases as well. The registry lists tests that can identify variants in this gene associated with these diseases.

For additional information on these tests, the GTR provides references to scientific articles, databases, and resources such as OMIM and PubMed. These references can help researchers and healthcare professionals understand the genetic basis of the SLC2A10 gene and its role in various disorders.

It is important to note that the exact role of the SLC2A10 gene in certain conditions and the clinical significance of specific variants within this gene are still unclear. Therefore, genetic testing should be interpreted carefully and in the context of other clinical findings.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles related to various fields of research, including genetics. In the context of the SLC2A10 gene, PubMed provides a wealth of information on its role in various diseases and conditions related to the skin and arteries.

The SLC2A10 gene, also known as GLUT10, codes for a solute carrier transporter. Changes or variants in this gene are associated with arterial tortuosity syndrome, a disorder characterized by tortuous arteries and other related conditions.

Scientific articles listed on PubMed provide valuable references for testing and additional information on diseases and genes related to SLC2A10. For example, the TGFBETA system in arterial tortuosity syndrome is unclear, and PubMed articles can shed light on the role of this growth factor in the disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders and related genes. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases.

OMIM lists a wide range of genetic diseases and disorders, including syndromes, disorders, and conditions caused by changes in specific genes. It provides information on the associated symptoms, inheritance patterns, and available diagnostic tests for each condition. The catalog also includes references to scientific articles and other resources for further reading.

One example of a gene listed in OMIM is the SLC2A10 gene, which is associated with arterial tortuosity syndrome. This disorder is characterized by abnormal twisting and elongation of the arteries throughout the body, leading to various health complications. The OMIM entry for the SLC2A10 gene provides detailed information on the variant changes and their impact on the arterial transporter system.

In addition to the SLC2A10 gene, OMIM includes information on numerous other genes and their associated diseases. For example, the catalog provides details on the TGFBETA genes and their role in growth and development. However, it is important to note that the exact relationship between these genes and specific conditions is still unclear and requires further research.

OMIM also serves as a registry for genetic testing laboratories, listing the available tests for the genes and diseases included in the catalog. Individuals and healthcare professionals can use this information to find testing facilities and obtain more information on specific genetic conditions.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for anyone interested in understanding the genetic basis of various conditions. It provides comprehensive and up-to-date information on genes, diseases, and related research, making it an essential tool for geneticists, clinicians, and researchers.

References:

Colombi M, Solovieva E. Vascular Ehlers-Danlos Syndrome and other variants of Collagen-Related Disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1494/
OMIM – Online Mendelian Inheritance in Man. Available from: https://omim.org/
van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 17. PMID: 21242998.

Gene and Variant Databases

Gene and variant databases are valuable sources of information for researchers and clinicians studying the SLC2A10 gene and related variants. These databases provide comprehensive collections of genetic information, including names, testing methods, and additional details about the gene and its variant forms.

One widely used database is the OMIM (Online Mendelian Inheritance in Man) catalog, which compiles information on genetic disorders and conditions. The OMIM database provides comprehensive information on the SLC2A10 gene, its associated disorders, and the specific variant types.

Another resource is the GeneTests registry, which offers a wide range of genetic testing options for various diseases and conditions. This registry includes testing options specifically related to the SLC2A10 gene and its variants, providing crucial information for individuals seeking genetic testing.

Scientific articles and publications also serve as valuable sources of information on the SLC2A10 gene and related variants. PubMed, a comprehensive database of scientific literature, contains articles discussing the role of the SLC2A10 gene in various health conditions and diseases, including arterial tortuosity syndrome and other related disorders.

Several other databases, such as the Colombian SLC2A10 gene and related arterial tortuosity syndrome database, offer specialized information on specific aspects of the gene and related disorders. These databases provide detailed information on gene changes, specific variants, and symptoms associated with these disorders.

In addition to these databases, there are resources that focus on specific aspects of the SLC2A10 gene and its variants. For example, the Genet TGFbeta Receptor Transporter database focuses on the role of the gene in the TGFbeta signaling pathway and its implications for specific health conditions.

Overall, gene and variant databases play a crucial role in advancing our understanding of the SLC2A10 gene and its implications for various health conditions. They provide a wealth of information on genetic testing options, variant types, associated disorders, and related scientific research, allowing researchers and clinicians to better understand and manage these conditions.

References

Online Mendelian Inheritance in Man (OMIM): https://omim.org/
Genetics Home Reference: https://ghr.nlm.nih.gov/
PubMed: https://pubmed.ncbi.nlm.nih.gov/
The Human Gene Mutation Database (HGMD): https://www.hgmd.cf.ac.uk/
OMIM Gene(s): SLC2A10: https://www.omim.org/entry/606145