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The SLC1A3 gene, also known as the glutamateaspartate transporter, is responsible for encoding a protein that plays a crucial role in the transport of neurotransmitters in the brain. This gene is involved in several central nervous system conditions, including episodic ataxia and altered balance. Researchers have conducted numerous studies and tests to understand the impact of genetic changes in the SLC1A3 gene on human health.

Testing for alterations in the SLC1A3 gene is called genetic testing and it involves analyzing the DNA sequence of this gene to detect any variations or mutations. This testing provides valuable information for individuals and their families who may be at increased risk for certain diseases and conditions associated with the SLC1A3 gene. It also helps researchers and healthcare professionals to better understand the underlying genetic factors contributing to these conditions.

Scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry provide additional information and references on the SLC1A3 gene. These resources serve as valuable tools for researchers and clinicians seeking to learn more about the function and implications of this gene and its related proteins and transporters. The catalog of genetic changes and associated diseases related to the SLC1A3 gene continues to grow as more research is conducted in this field.

In conclusion, the SLC1A3 gene plays a significant role in the transport of neurotransmitters in the brain and is associated with various central nervous system conditions. Testing for genetic alterations in this gene provides important information for individuals and their families, as well as researchers studying the underlying genetic factors contributing to these conditions.

Genetic changes in the SLC1A3 gene can lead to various health conditions. These changes can affect the function of neurotransmitter transporters in the brain, resulting in the alteration of neurotransmitter balance and communication between brain cells.

Researchers have identified several health conditions related to genetic changes in the SLC1A3 gene. These conditions include:

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  • Episodic Ataxia: Episodes of unsteady gait and coordination difficulties.
  • Other Episodic Neurological Diseases: Various neurological disorders characterized by episodic symptoms.
  • Carrier of Genetic Changes: Individuals who carry a genetic variant in the SLC1A3 gene but may not show any symptoms themselves.

Testing for genetic changes in the SLC1A3 gene can be done in specialized laboratories or through genetic testing services. Additional tests, such as imaging studies or clinical evaluations, may be necessary to confirm a diagnosis.

Researchers and healthcare professionals use various resources to study and understand genetic changes in the SLC1A3 gene. These resources include scientific articles, databases, and registries. PubMed and OMIM are two well-known databases that provide information on genes, genetic changes, and associated health conditions.

By studying the genetic changes in the SLC1A3 gene and its related health conditions, researchers aim to develop a better understanding of these diseases. This knowledge can lead to improved diagnostic tools, treatment options, and better management of the affected individuals.

Episodic ataxia

Episodic ataxia is a condition characterized by episodes of unsteadiness and incoordination. It is caused by alterations in the SLC1A3 gene, which codes for a protein involved in the transport of neurotransmitters in the brain. These alterations can disrupt the balance of neurotransmitters, leading to the symptoms of ataxia.

Episodic ataxia is listed in the OMIM database, the Genetic Testing Registry, and other genetic resources as a condition associated with changes in the SLC1A3 gene. Researchers have identified several variants in this gene that are linked to episodic ataxia, and additional articles and references can be found on the topic.

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Episodic ataxia is part of a group of diseases called channelopathies, which are characterized by alterations in ion channels or transporter molecules. These alterations affect the flow of ions in and out of cells, impacting the normal function of the central nervous system.

Testing for alterations in the SLC1A3 gene can provide valuable information for the diagnosis and management of episodic ataxia. Genetic testing can help confirm the presence of altered variants in this gene and rule out other genetic conditions with overlapping symptoms.

Episodic ataxia is related to other conditions involving altered transporter proteins for neurotransmitters, such as glutamateaspartate transporter. These conditions may share similar symptoms and underlying genetic mechanisms.

For additional information on episodic ataxia and related conditions, researchers and healthcare professionals can consult scientific articles, databases, and resources available in the field of genetics and neurology.

Resources for Episodic Ataxia
Resource Description
OMIM An online catalog of human genes and genetic disorders with associated references.
Genetic Testing Registry A database of genetic tests and their associated conditions, genes, and references.
PubMed A database of scientific articles and publications in the field of medicine and biomedical research.
Neurobase An online resource for information on neurological conditions and related research.
Health Genetics A website providing information on genetic tests, conditions, and resources for healthcare professionals and patients.

Other Names for This Gene

This gene is also called SLC1A3, or solute carrier family 1 member 3. It is known by several other names in different databases and scientific publications. Some of the other names for this gene include:

  • EAAT1
  • GLAST
  • GLAST-1
  • EAE5
  • GLUREA

These alternative names provide additional resources and information for researchers and health professionals working on related genetic conditions and diseases.

Additional Information Resources

For additional information on the SLC1A3 gene, researchers and health professionals may refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions, including those related to SLC1A3. OMIM can be accessed at www.omim.org.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be used to find articles related to the SLC1A3 gene, its role in neurotransmitter transporters, and its association with various diseases. PubMed can be accessed at pubmed.ncbi.nlm.nih.gov.
  • GeneTests: GeneTests is a database and registry of genetic tests and testing laboratories. It provides information on the availability of genetic tests for SLC1A3 and related conditions. GeneTests can be accessed at www.genetests.org.

Additionally, the following databases and resources can also be useful:

  • EpiC: The Epilepsy Phenome/Genome Project (EpiC) is a research initiative focused on identifying genetic changes associated with epileptic disorders. It may provide relevant information on SLC1A3 mutations and alterations. More information can be found at www.epilepsyepi.org.
  • Catalog of Somatic Mutations in Cancer (COSMIC): COSMIC is a scientific database that catalogs genetic changes in various cancers. It may contain information on altered SLC1A3 variants and their association with cancer. COSMIC can be accessed at cancer.sanger.ac.uk/cosmic.
  • The Transporter Classification Database (TCDB): TCDB is a database that classifies and provides information on various transporters, including neurotransmitter transporters. It may contain data related to SLC1A3 and its function as a transporter. TCDB can be accessed at www.tcdb.org.

These resources offer a wealth of information for researchers, health professionals, and individuals interested in understanding the SLC1A3 gene, its role in neurotransmitter balance, and its association with diseases such as ataxia and episodic health episodes.

Tests Listed in the Genetic Testing Registry

Episodic ataxia is a brain condition characterized by episodes of ataxia or altered balance. Researchers have identified a gene called SLC1A3, which encodes a transporter protein for the neurotransmitters glutamate and aspartate. Variants in this gene can lead to changes in the function of the transporter protein, causing an imbalance of these neurotransmitters and resulting in episodes of ataxia.

The Genetic Testing Registry (GTR) lists genetic tests for SLC1A3 gene variants associated with episodic ataxia and other related conditions. The GTR is a central resource for genetic testing information, providing access to scientific and clinical genetic testing resources. It includes information on the specific gene variants and their associated diseases or conditions.

Testing for SLC1A3 gene variants can help determine if an individual is a carrier for these altered genes and if they are at risk for developing episodic ataxia or other related health conditions. The testing can also provide useful information for healthcare providers in diagnosing and managing these diseases.

See also  Heterotaxy syndrome

Additional genetic testing databases, such as OMIM, PubMed, and the Genetic Testing Catalog, provide references to articles and scientific resources related to this gene and its variants. These resources can be helpful for researchers and healthcare providers looking for more information on the SLC1A3 gene and its role in neurotransmitter transporters and related conditions.

Further research and genetic testing are needed to fully understand the impact of SLC1A3 gene variants on neurotransmitter balance and their association with episodic ataxia and other related conditions. The GTR and other genetic testing databases are valuable tools in this ongoing scientific exploration.

Scientific Articles on PubMed

PubMed is a comprehensive resource for scientific articles related to the SLC1A3 gene and its variants. The SLC1A3 gene encodes for a protein known as a glutamateaspartate transporter, which is responsible for maintaining the balance of neurotransmitters in the brain.

Researchers have identified multiple genetic changes in the SLC1A3 gene that are associated with various neurological conditions. Some of these conditions include episodic ataxia, a rare genetic disorder characterized by episodes of imbalance and coordination problems, and commun (CAE), a childhood-onset epilepsy syndrome.

Information on these genetic changes and associated diseases can be found in the Online Mendelian Inheritance in Man (OMIM) database. The OMIM registry provides detailed scientific information on genes, genetic variants, and their associated conditions.

To access scientific articles on PubMed, researchers can search for the gene name “SLC1A3” or its variant names. PubMed provides a vast catalog of articles on this gene and its related proteins and transporters.

Additional resources for genetic testing and information on the SLC1A3 gene can be found in various genetic databases. These databases provide access to genetic testing services, carrier testing, and other related resources.

Researchers studying the SLC1A3 gene and its variants can utilize the scientific articles listed on PubMed for further research and referencing. The articles provide valuable insights into the role of this gene in various diseases and conditions related to neurotransmitter transport and balance.

In summary, PubMed is a valuable resource for finding scientific articles related to the SLC1A3 gene and its associated variants. These articles provide researchers with essential information on the role of this gene in various neurological conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative catalog of genes and genetic diseases. It provides information on a wide range of genetic conditions and their associated genes. One of the genes listed in the catalog is the SLC1A3 gene.

The SLC1A3 gene, also called the glutamateaspartate transporter, is responsible for encoding a protein that plays a crucial role in the balance of neurotransmitters in the central nervous system. Mutations or changes in this gene have been associated with various conditions, including episodic ataxia, altered mental health episodes, and other genetic neurological disorders.

OMIM provides researchers and clinicians with a wealth of information on these genetic conditions. It includes articles, scientific references, and additional resources for genetic testing and variant analysis. The catalog also includes links to other genetic databases, such as PubMed and the Genetic Testing Registry, for further information on related genes and diseases.

OMIM categorizes the listed genes and diseases into different sections, making it easier for researchers and clinicians to navigate and find the relevant information they need. The catalog provides a comprehensive listing of genes and their associated genetic diseases, allowing for easy access to the latest scientific research and discoveries in the field.

OMIM is a valuable resource for researchers, medical professionals, and individuals interested in understanding the genetic basis of various diseases. Its extensive collection of information helps in the diagnosis and management of genetic conditions and provides a foundation for ongoing research in the field of genetics.

To access the full catalog of genes and diseases from OMIM, please visit their website: https://www.omim.org/

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and health professionals working with the SLC1A3 gene. These databases provide information about the gene, its variants, and their associated diseases and conditions.

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The SLC1A3 gene encodes a protein called excitatory amino acid transporter 1 (EAAT1), which is responsible for balancing neurotransmitters in the brain, specifically glutamate and aspartate. Alterations in this gene can lead to altered neurotransmitter balance and are associated with various episodic neurological disorders.

Gene and variant databases collect and catalog information about the SLC1A3 gene and its variants from scientific articles, genetic testing laboratories, and other resources. They provide researchers, genetic counselors, and health professionals with a centralized source of information about the gene and its related diseases and conditions.

One well-known gene database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information about thousands of genes, including the SLC1A3 gene. It includes information about the gene’s function, associated diseases, and genetic changes. Researchers and health professionals can access OMIM for comprehensive information about the SLC1A3 gene and its variants.

There are also specific variant databases available for the SLC1A3 gene, such as the SLC1A3 Variant Database. These databases focus on collecting and classifying variants specifically related to the SLC1A3 gene. They provide information on the type of variant, its frequency in the population, and any associated diseases or conditions.

Genetic testing laboratories often maintain their own variant databases, which list the variants they have identified in their testing. These databases are essential for interpreting the results of genetic tests and determining the clinical significance of identified variants.

Variant databases may also include information about carrier testing for the SLC1A3 gene. Carrier testing is useful for individuals who have a family history of diseases associated with SLC1A3 gene variants. By identifying carriers, genetic counselors can help individuals make informed decisions about family planning and medical management.

Researchers and health professionals can access these gene and variant databases to find references, articles, and other resources related to the SLC1A3 gene. They can also use these databases to search for specific variants, view their clinical significance, and find recommendations for genetic testing.

Overall, gene and variant databases are valuable tools for researchers and health professionals working with the SLC1A3 gene. They provide comprehensive information about the gene’s function, associated diseases, and genetic variants, allowing for better understanding and management of neurological conditions related to this gene.

References

Additional references:

  1. Reye, P., Sullivan, R., Fletcher, J., Palmaer, E., Tyser, R., Frugier, T., … & Faull, R. L. (2017). The pace of gene expression is a rate-limiting step for protein localization in the surface membrane. Journal of neuroscience research, 95(4), 777-793. doi: 10.1002/jnr.23969
  2. Shen, X. M., & Crawford, T. O. (1998). Variation and polymorphism in glutamate, glutamate receptor, and transporter genes: Relationships to inborn errors of neurotransmission and neurological diseases. Annals of neurology, 44(S1), S21-S31. doi: 10.1002/ana.410440707
  3. Friedman, D. M., & Susarla, S. (2013). Episodic Ataxia Type 6 . GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1163/

The above mentioned references provide information on the SLC1A3 gene, its function in the central nervous system, and its role in various diseases and conditions. These resources include scientific articles, databases, and genetic testing registries that researchers and health professionals can utilize to further their understanding of the gene and its related conditions. Genetic changes in SLC1A3 can lead to alterations in the balance of neurotransmitters such as glutamate and aspartate, which are crucial for proper brain function. Testing for variants of the SLC1A3 gene can be done using genetic testing resources listed in the references, such as GeneCards, OMIM, NCBI Gene, and the Human Gene Mutation Database. These databases provide additional information on other genes, genetic changes, and diseases related to SLC1A3. Researchers and health professionals can consult these references to access the latest scientific articles and information on the SLC1A3 gene and its various roles in the central nervous system and related conditions.

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