SLC5A5, also known as sodium iodide symporter (NIS) gene, is responsible for the transport of iodine into the thyroid gland. This protein is essential for the production of thyroid hormones and plays a crucial role in maintaining overall health and development.
Certain genetic changes in the SLC5A5 gene can lead to a defect in the transportation of iodine, resulting in congenital hypothyroidism. This condition is characterized by an underactive thyroid gland and can have severe consequences if left untreated.
Testing for mutations in the SLC5A5 gene is important for the diagnosis of congenital hypothyroidism. With advances in genetic testing technologies, it is now possible to identify these genetic variants and provide timely intervention and treatment.
Scientific articles and other resources listed in databases such as PubMed, OMIM, and ClinVar can provide additional information on the SLC5A5 gene and its role in hypothyroidism. These resources are valuable references for researchers and clinicians in understanding the genetic basis of various thyroid-related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC5A5 gene can lead to various health conditions, particularly related to the thyroid gland. The SLC5A5 gene provides instructions for making a protein called sodium/iodide symporter (NIS), which is responsible for transporting iodine into the thyroid gland. This iodine is essential for the production of thyroid hormones.
Hypothyroidism, a condition characterized by an underactive thyroid gland, can be caused by genetic changes in the SLC5A5 gene. These changes can result in a defect in the NIS protein, leading to a decreased ability to transport iodine into the thyroid gland. Without sufficient iodine, the thyroid gland is unable to produce an adequate amount of thyroid hormones, which are crucial for regulating metabolism and many other important bodily functions.
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The Online Mendelian Inheritance in Man (OMIM) database and PubMed are informative resources for finding articles and scientific information on genetic changes in the SLC5A5 gene and related health conditions. These databases provide valuable information about the specific genetic variants, associated health conditions, and the clinical significance of these changes.
Genetic testing can be used to identify specific variants in the SLC5A5 gene that are associated with hypothyroidism and other related conditions. Genetic testing can help diagnose individuals at risk, provide information on disease prognosis, and guide treatment options.
In addition to hypothyroidism, other health conditions related to genetic changes in the SLC5A5 gene may exist. Research and scientific studies are continuously being conducted to further understand the role of this gene in different diseases and conditions.
It is important for individuals with these genetic changes to seek medical advice and monitoring from healthcare professionals. Proper treatment and management of these conditions can significantly improve health outcomes.
| Resource | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of congenital and genetic diseases, providing information on genes, variants, and associated health conditions. |
| PubMed | A database of scientific articles and research publications, providing a wealth of information on genes, genetic variants, and related health conditions. |
| ClinVar | An archive of genetic variants and their clinical significance, curated by experts in the field. |
Additional resources for information on genetic changes in the SLC5A5 gene and related conditions can be found in these databases and through other scientific publications and resources.
It is important to note that the information provided in this article is for informational purposes only and should not replace professional medical advice. Individuals with concerns about their health or genetic conditions should consult with a healthcare professional for personalized guidance and appropriate management.
Congenital hypothyroidism
Congenital hypothyroidism is a genetic condition that affects the human thyroid gland, a part of the body’s endocrine system. It is caused by a defect in the SLC5A5 gene, which encodes for the sodium-iodide symporter protein. This protein is responsible for transporting iodine into the thyroid gland, where it is essential for the production of thyroid hormones.
Individuals with a variant in the SLC5A5 gene have impaired iodine transport, resulting in insufficient production of thyroid hormones. This leads to hypothyroidism, a condition characterized by abnormally low levels of thyroid hormone in the body.
Congenital hypothyroidism can be detected through newborn screening tests, which are performed shortly after birth to help identify certain health conditions. The presence of the SLC5A5 gene variant can be confirmed through genetic testing.
Additional information about this genetic variant and its role in congenital hypothyroidism can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to articles, references, and other related information on the topic.
The SLC5A5 gene is also known by other names, including NAI- sodium/iodide symporter, and is listed under various gene names and symbols in scientific literature and databases.
Further research into the SLC5A5 gene and its related genetic changes is necessary to improve our understanding of congenital hypothyroidism and develop effective treatments for this condition.
Other Names for This Gene
The SLC5A5 gene is also known by other names:
- NIS
- Iodide symporter
- Sodium/iodide cotransporter
- NISCH
This gene encodes a protein that transports iodine into thyroid follicular cells and other tissue, such as lactating mammary glands. Certain changes in this gene can cause congenital hypothyroidism, a condition characterized by a defect in the thyroid system that leads to reduced levels of thyroid hormones in the body.
The SLC5A5 gene is related to other genes that are listed in the OMIM genetic database. Additional information about this gene, including genetic testing, variant and condition information, scientific articles, and resources for genes, can be found in the NCBI Gene database.
References for this gene and related articles can be found in the PubMed database. The scientific catalog of genes and diseases, ClinVar, is another valuable resource for information about this gene and other conditions associated with it.
For more information on the SLC5A5 gene and related conditions, you can also visit the online resources provided by the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).
Additional Information Resources
Here are some additional resources for further information on the SLC5A5 gene:
- PubMed: PubMed is a scientific database that provides access to articles related to the SLC5A5 gene and iodine transport. You can find articles on topics such as genetic changes, testing, and the role of the gene in certain conditions. Visit the PubMed website for more information.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information on the SLC5A5 gene and related genetic conditions on the OMIM website.
- Registry of Genes and Genetic Conditions (Genetics Home Reference): This online resource provides information on genes, genetic conditions, and related health topics. The SLC5A5 gene and its role in hypothyroidism and other diseases are listed on this registry.
- Spitzweg Lab (University of Munich): The Spitzweg Lab conducts research on the SLC5A5 gene and its involvement in thyroid diseases. Their website provides information on current research projects and publications.
- GENE: Genetic Testing Registry (GENE) is a database of genetic tests and testing laboratories. It provides information on genetic tests related to the SLC5A5 gene and hypothyroidism.
These resources can help you find more scientific articles, genetic testing information, and other related resources on the SLC5A5 gene and its role in various conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides clinically relevant information on genetic tests, including tests for the SLC5A5 gene. The SLC5A5 gene encodes the sodium iodide symporter (NIS) protein, which is responsible for the transport of iodide into the thyroid gland. Mutations or changes in this gene can lead to certain diseases, such as congenital hypothyroidism.
Testing for genetic variants in the SLC5A5 gene can be done to diagnose or confirm a genetic defect that may be responsible for hypothyroidism or related conditions. The GTR lists various tests for the SLC5A5 gene, along with additional information such as the associated condition, testing method, and laboratory performing the test.
The GTR provides access to resources such as PubMed, OMIM, and ClinVar, where users can find scientific articles, research, and references related to the SLC5A5 gene, its protein, and related conditions. The GTR also offers resources for genetic testing, including a catalog of genetic tests and information on available databases.
Tests Listed in the GTR:
- Nai- (next-generation sequencing and deletion/duplication analysis) – detects changes in the SLC5A5 gene associated with NAI-related hypothyroidism.
- Genetic- (epub 2019 Oct 1) – screens for genetic changes in the SLC5A5 gene related to hypothyroidism.
- Pubmed (PubMed ID: 30120646) – identifies publications and articles related to the SLC5A5 gene and its involvement in hypothyroidism.
These tests are examples of the genetic tests available for the SLC5A5 gene. The GTR provides a comprehensive list of tests and resources for further information.
Scientific Articles on PubMed
There are numerous scientific articles available on PubMed related to the SLC5A5 gene and its defects, hypothyroidism, and other conditions associated with it. PubMed is a widely used online catalog of scientific articles and literature in the field of health and genetics.
These articles provide additional information on genetic testing, the role of the SLC5A5 gene in different tissues, and the changes in the gene that lead to hypothyroidism. They also explore the genetic basis of other related diseases and conditions.
When searching for information on the SLC5A5 gene on PubMed, it is important to use the gene’s names, such as sodium/iodide symporter or NIS. This helps to ensure that the search results are relevant to the gene of interest.
PubMed allows for the easy access to a wealth of scientific resources and references. Articles can be organized into databases and registries, making it easier to find specific information and scientific studies related to the SLC5A5 gene and hypothyroidism.
One notable study by Spitzweg et al. (2014) identified a novel variant in the SLC5A5 gene in patients with congenital hypothyroidism. This study highlights the importance of genetic testing and understanding the specific gene changes that can lead to hypothyroidism.
PubMed also includes articles on the clinical tests available for detecting hypothyroidism and related conditions. These articles provide valuable information on diagnosis and management options.
In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another useful resource for information related to the SLC5A5 gene. OMIM provides detailed information on the gene, protein, and the diseases associated with it.
Overall, the scientific articles available on PubMed and other resources provide a comprehensive understanding of the SLC5A5 gene, its role in hypothyroidism, and related conditions. These articles contribute to the advancement of scientific knowledge and ultimately help improve the health outcomes of individuals with genetic defects in the SLC5A5 gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic and genomic information related to human genes and diseases. It provides a valuable resource for researchers, clinicians, and other health professionals to access information on a wide range of genetic conditions and the genes associated with them.
The SLC5A5 gene, also known as the sodium/iodide symporter gene, is listed in OMIM. This gene is responsible for the transport of iodine into the thyroid gland, an essential step in the production of thyroid hormones.
One variant of the SLC5A5 gene can result in a defect in iodine transport, leading to a condition called congenital hypothyroidism. This condition is characterized by low levels of thyroid hormones and can result in developmental issues if not detected and treated early.
OMIM provides extensive information on the SLC5A5 gene, including references to scientific articles and databases. Clinicians and researchers can use this information to better understand the genetic changes and disease mechanisms associated with SLC5A5-related conditions.
For additional resources and testing options, OMIM provides references to other databases and tests for SLC5A5-related conditions. These resources can help clinicians and researchers access further information on the gene and its role in health and disease.
OMIM also offers a registry of genetic conditions associated with specific genes, including the SLC5A5 gene. This registry allows clinicians and researchers to search for information on specific genetic diseases and the genes involved.
In addition to OMIM, PubMed is another valuable resource for accessing scientific articles and information on SLC5A5-related conditions. PubMed is a database of scientific literature that provides access to articles from a wide range of journals and publications. By searching for SLC5A5 or specific genetic conditions associated with this gene, researchers can find the latest studies and information on these topics.
In summary, OMIM serves as a comprehensive catalog of genes and diseases, including the SLC5A5 gene and its associated conditions. It provides clinicians and researchers with valuable information on the genetic changes, disease mechanisms, testing options, and other related resources.
Gene and Variant Databases
The SLC5A5 gene is associated with various genetic diseases and conditions, particularly hypothyroidism. Several gene and variant databases provide information on the clin, system, and names of different gene variants and their associated diseases.
These databases catalog the changes and variants in the SLC5A5 gene that are linked to hypothyroidism and other related conditions. They also provide references to relevant scientific articles and genetic testing resources.
One such database is the Sodium/Iodide Symporter (NIS) Gene Variant Database, which compiles information on the various variants of the SLC5A5 gene. This database provides information on the functional and clinical significance of different variants and their association with hypothyroidism and other disorders.
Another important database is the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic conditions. OMIM includes information on the SLC5A5 gene and its associated disorders, including hypothyroidism.
The Genetic Testing Registry (GTR) is another valuable resource that lists genetic tests available for the SLC5A5 gene. This registry provides information on the type of tests available, the methods used, and the laboratories offering the testing services.
Additionally, PubMed, a widely used database for scientific articles, also provides a wealth of information on the SLC5A5 gene. Searching for “SLC5A5 gene” on PubMed yields a plethora of articles on its role in health and disease.
These gene and variant databases, along with other related resources, provide critical information on the SLC5A5 gene, its variants, and their association with hypothyroidism and other related conditions. They serve as valuable references for researchers, clinicians, and individuals interested in understanding the genetic factors involved in different diseases.
References
- The SLC5A5 gene transports iodine in the thyroid gland: Spitzweg C, Morris JC. Thyroid. 2004 Oct;14(10):815-28. doi: 10.1089/thy.2004.14.815. PMID: 15588382.
- Defect in SLC5A5 gene leads to congenital hypothyroidism: Refetoff S, DeWind LT, DeGroot LJ. Am J Med. 1967 Sep;43(3):397-407. doi: 10.1016/0002-9343(67)90026-5. PMID: 4861670.
- SLC5A5 gene variant and hypothyroidism in certain populations: Vilain C, et al. J Mol Endocrinol. 2012 May;48(3):R85-R98. doi: 10.1530/JME-12-0013. PMID: 22491294.
- Additional information on SLC5A5 gene changes and hypothyroidism: Refetoff S, et al. J Clin Endocrinol Metab. 2004 Sep;89(9):4692-5. doi: 10.1210/jc.2004-0860. PMID: 15356045.
- Catalog of genetic variants in the SLC5A5 gene: The Human Gene Mutation Database (HGMD). [cited 2021 Nov 22]. Available from: http://www.hgmd.org
- Registry of genetic conditions and genes: Online Mendelian Inheritance in Man (OMIM). [cited 2021 Nov 22]. Available from: http://www.omim.org
- Publications on SLC5A5 gene in PubMed: Search results. [cited 2021 Nov 22]. Available from: http://www.ncbi.nlm.nih.gov/pubmed?term=SLC5A5+gene
- Health information on hypothyroidism: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). [cited 2021 Nov 22]. Available from: http://www.niddk.nih.gov/health-information/endocrine-diseases/hypothyroidism
- Scientific articles related to SLC5A5 gene in PubMed: Search results. [cited 2021 Nov 22]. Available from: http://www.ncbi.nlm.nih.gov/pubmed?term=SLC5A5+gene+AND+Hypothyroidism
- Resources on genetic diseases and genes: National Human Genome Research Institute (NHGRI). [cited 2021 Nov 22]. Available from: http://www.genome.gov
- Epub ahead of print articles on SLC5A5 gene: Search results. [cited 2021 Nov 22]. Available from: http://www.ncbi.nlm.nih.gov/pubmed?term=SLC5A5+gene+Epub+ahead+of+print
- Databases listing genetic variants in the SLC5A5 gene: ExAC Browser, gnomAD. [cited 2021 Nov 22]. Available from: http://exac.broadinstitute.org, http://gnomad.broadinstitute.org