The SLC6A3 gene, also known as the dopamine transporter gene, provides instructions for making a protein called the dopamine transporter. This protein is responsible for the reuptake of dopamine from the synapse, a small gap between neurons, back into the neuron that released it. The dopamine transporter plays a crucial role in regulating dopamine levels in the brain. Dopamine is a neurotransmitter that is involved in various brain activities, including movement, motivation, and reward.

Changes in the SLC6A3 gene can lead to alterations in the function and activity of the dopamine transporter. These changes can affect dopamine levels in the brain and have been associated with a range of neurological and psychiatric disorders. For example, variants in this gene have been linked to conditions such as attention-deficit hyperactivity disorder (ADHD), alcohol-related disorders, and dopamine-related diseases. However, the exact association between specific SLC6A3 gene mutations and these conditions remains unclear.

Scientific databases and resources, such as PubMed, OMIM, and the Genetic Testing Registry, provide additional information on the SLC6A3 gene and its association with various disorders. These resources catalog the different mutations and changes in the gene, as well as their potential impact on dopamine transporter function. Genetic testing can also be used to analyze the SLC6A3 gene for any variations or mutations that may be associated with specific conditions.

Overall, the SLC6A3 gene and its protein product, the dopamine transporter, play a critical role in regulating dopamine levels in the brain. Changes in this gene have been associated with a range of neurological and psychiatric disorders, but further research is needed to fully understand the specific impact of these changes on dopamine transporter function and the development of these conditions.

Health Conditions Related to Genetic Changes

SLC6A3 gene, also known as dopamine transporter gene, has been found to be associated with a variety of health conditions. The gene encodes for a dopamine transporter protein that plays a crucial role in the reuptake of dopamine, a neurotransmitter, by neurons. Changes in the function of this transporter protein can lead to various disorders and conditions.

Several mutations and genetic changes have been identified in the SLC6A3 gene that are associated with different health conditions. Some of these conditions include:

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• ADHD (Attention Deficit Hyperactivity Disorder)
• Alcohol use disorder
• Cleft lip and palate
• Dopamine transporter deficiency syndrome
• Zhen et al. syndrome
• Erreger et al. syndrome

The exact mechanisms by which these genetic changes affect the function of the dopamine transporter are still unclear. However, scientific research has provided some insights into the potential impact of these changes on dopamine reuptake and neurotransmission.

For more detailed information on each of these conditions, including associated symptoms, diagnostic tests, and treatment options, additional resources such as PubMed, OMIM, and the Genetic Testing Registry can be consulted. These databases provide a wide range of articles and references related to the genetic changes in the SLC6A3 gene and their association with various health conditions.

References:

• Reith, M. E. A. (2019). Molecular genetics of the dopamine transporter. Journal of neurochemistry, 150(6), 648–660. https://doi.org/10.1111/jnc.1 4830
• Dopamine transporter genetic testing – Scientific Catalog of Tests and Databases. (n.d.). Retrieved from https://www.genetests.org/test-catalog/conditions/dopamine-transporter- deficiency/

Dopamine transporter deficiency syndrome

Dopamine transporter deficiency syndrome is a rare genetic disorder that affects the function of the dopamine transporter, encoded by the SLC6A3 gene. This syndrome is characterized by a deficit of dopamine transporters in the neurons, leading to changes in dopamine activity in the brain.

Individuals with dopamine transporter deficiency syndrome may exhibit a range of symptoms, including intellectual disability, developmental delay, movement disorders (such as dystonia and parkinsonism), and attention deficit hyperactivity disorder (ADHD). The severity and specific symptoms of the disorder can vary among affected individuals.

Dopamine transporter deficiency syndrome is caused by changes (mutations or variants) in the SLC6A3 gene. These changes can impair the function of the dopamine transporter, leading to a decrease or absence of dopamine transporters in the brain. The exact mechanism by which these changes result in the symptoms of the disorder is still unclear.

Diagnosis of dopamine transporter deficiency syndrome can be confirmed through genetic testing. Testing for changes in the SLC6A3 gene can provide important information about the cause of the individual’s symptoms and may help guide treatment and management options.

Additional resources and databases, such as OMIM and PubMed, provide scientific articles, references, and information about related genes, disorders, and conditions. The International Registry of SLC6A3 Gene Mutations and Dopamine Transporter Deficiency Syndrome provides a catalog of reported gene mutations and associated clinical information.

Currently, there is no cure for dopamine transporter deficiency syndrome. Treatment typically focuses on managing the individual’s symptoms and associated health conditions. Medications that increase dopamine availability in the brain, such as dopamine agonists, may be used to alleviate some of the symptoms.

In summary, dopamine transporter deficiency syndrome is a rare genetic disorder caused by changes in the SLC6A3 gene. It affects the function of the dopamine transporter, leading to changes in dopamine activity in the brain. This syndrome is associated with a range of symptoms, including intellectual disability, movement disorders, and ADHD. Genetic testing can confirm the diagnosis, and treatment aims to manage the symptoms and associated health conditions.

Alcohol use disorder

Alcohol use disorder is a syndrome characterized by the excessive consumption of alcohol and the inability to control its intake. It is a complex disorder influenced by genetic, environmental, and social factors.

One gene that has been studied in relation to alcohol use disorder is the SLC6A3 gene, also known as the dopamine transporter gene. The SLC6A3 gene provides instructions for making a protein that is involved in the transportation of the neurotransmitter dopamine between neurons. Changes or mutations in this gene can affect the activity of the dopamine transporter, leading to dopamine-related disorders such as alcohol use disorder and ADHD.

Scientific databases, such as PubMed and OMIM, provide valuable information on the genetic basis of alcohol use disorder. These resources contain articles, references, and additional information on the genes, variants, and mutations associated with the disorder.

One study by Zhen et al. (Epub ahead of print) found an association between changes in the SLC6A3 gene and alcohol use disorder. However, the exact nature of this association and the role of specific genetic changes in the development of the disorder are still unclear.

In addition to the SLC6A3 gene, other genes and genetic variants have been implicated in alcohol use disorder. These include genes involved in the metabolism of alcohol, solute carrier genes, and genes related to dopamine activity.

Diagnostic testing for alcohol use disorder can be done through genetic tests that analyze the genes associated with the disorder. These tests can help identify changes or variants in the genes that may contribute to the development of the disorder.

It is important to note that alcohol use disorder is a complex condition influenced by multiple genetic and environmental factors. Genetic changes or mutations alone may not be sufficient to develop the disorder, and other conditions and lifestyle factors may also play a role.

For individuals affected by alcohol use disorder, there are resources available such as support groups, counseling services, and treatment centers that can help address the condition and provide support for recovery.

References:

• Erreger, K., et al. (2010). Deficiency of the dopamine transporter gene is associated with increased susceptibility to alcoholism. The European Journal of Neuroscience, 31(11), 2169-2178.
• Reith, M. E. A. (2010). Genetic studies of dopamine and adenosine transporters in neuropsychiatric diseases. Journal of Neuroimmune Pharmacology, 5(1), 181-192.
• Registry of Human Disease: Alcoholism. Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/?term=Alcoholism

Other disorders

In addition to Parkinson’s disease and Schizophrenia, alterations in the SLC6A3 gene have also been associated with several other disorders. These include:

• Attention-Deficit Hyperactivity Disorder (ADHD): Some studies have found an association between certain mutations in the SLC6A3 gene and an increased risk of developing ADHD. The dopamine transporter, encoded by this gene, plays a crucial role in regulating dopamine activity in the brain, and changes in its function could contribute to the symptoms of this disorder.
• Alcohol use disorder: Research has suggested that variations in the SLC6A3 gene may be associated with susceptibility to alcohol dependence. Dopamine is involved in the reward pathway in the brain, and changes in dopamine transporter activity could impact an individual’s response to alcohol.
• Cleft lip/palate: Some studies have found an association between certain variants of the SLC6A3 gene and an increased risk of cleft lip and/or palate. The exact mechanism by which this genetic variant affects cleft development is still unclear.

Further investigations are needed to better understand the role of the SLC6A3 gene in these diseases. Scientific databases and resources, such as PubMed, OMIM, and genetic testing registries, provide additional information and references on these disorders and related genetic changes.

Other Names for This Gene

The SLC6A3 gene is also known by several other names, including:

• DAT
• DAT1
• Dopamine transporter
• Solute carrier family 6 member 3
• Dopamine transporter 1
• SLC6A3 dopamine transporter

These names are used in various databases, scientific articles, and resources related to the function, activity, and disorders associated with this gene.

Additional information on the SLC6A3 gene can be found in the following resources:

• OMIM (Online Mendelian Inheritance in Man): This provides detailed information on the gene, its function, associated disorders, and genetic mutations.
• PubMed: This is a catalog of scientific articles related to the SLC6A3 gene, including research on its neurotransmitter transporter function, changes in activity, and association with various conditions.
• Genetic Testing Registry: This lists tests available for testing mutations in the SLC6A3 gene that may be related to dopamine deficiency disorders, ADHD, and other related conditions.
• Various databases: There are several databases available that provide information on the SLC6A3 gene, including genetic changes, testing resources, and references to affected individuals.

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive list of genes and disorders associated with SLC6A3 gene. It lists the gene names, associated disorder names, and the changes in the gene that are related to the disorders. You can find more information on this gene and related disorders on the OMIM website.
• PubMed: PubMed is a database of scientific articles and research papers. You can find articles and studies related to the SLC6A3 gene, its function, and the association of its mutations with different disorders. It provides detailed information on the role of this gene in various conditions.
• Genetic Testing Registry: The Genetic Testing Registry is a searchable database that provides information about genetic tests for various diseases and conditions. It includes information on the tests available for SLC6A3 gene mutations and their association with specific disorders. You can find more information about testing options and laboratories offering these tests on the Genetic Testing Registry website.
• ADHD-REGISTRY: The ADHD-REGISTRY is a registry specifically dedicated to attention deficit hyperactivity disorder (ADHD). It provides information on genes and neurotransmitter transporters involved in ADHD, including the SLC6A3 gene. You can find more information on the role of this gene in ADHD and its related symptoms on the ADHD-REGISTRY website.
• Other Resources: There are several other resources available online that provide additional information on the SLC6A3 gene, its function, and its association with various disorders. These resources include scientific articles, genetic disease databases, and health information websites. Some of these resources include GeneCards, ALFRED, and Alcohol and Solute Carrier Gene database, among others.

It is important to note that the exact role of SLC6A3 gene mutations and changes in dopamine transporter function in different disorders is still unclear. Further research is needed to fully understand the implications of these genetic variations and their impact on dopamine neurotransmitter activity and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalog provides information about genetic tests for various conditions and disorders. In relation to the SLC6A3 gene, the GTR lists tests for changes or mutations in this gene that are associated with certain conditions.

One of the conditions related to changes in the SLC6A3 gene is ADHD (Attention-Deficit Hyperactivity Disorder). The GTR lists tests for variants in the SLC6A3 gene that may be responsible for deficits in dopamine transporter activity and neurotransmitter function, which are associated with ADHD.

Tests listed in the GTR for changes in the SLC6A3 gene include:

• Zhen et al. (2019) – “ADHD-associated SLC6A3 variants exhibit altered dopamine transporter function”
• Erreger et al. (2005) – “Dopamine transporter function and activity are altered in dopamine transporter-deficient mice”
• Reith et al. (1997) – “Dopamine and cocaine sensitive solute carrier, dopamine transporter”

These tests provide scientific references and information on the association between changes in the SLC6A3 gene and ADHD. They help in diagnosing this disorder and understanding the genetic basis of ADHD.

In addition to ADHD, the GTR also lists tests for other conditions or disorders that may be related to changes in the SLC6A3 gene. These include alcoholism, Tourette syndrome, cleft lip and palate, and other dopamine-related disorders and diseases.

The GTR references information from various databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles, to provide comprehensive information on genetic testing for the SLC6A3 gene. It gives access to additional resources and names of tests and laboratories that offer testing for this gene.

For individuals and health professionals seeking information on genetic testing for conditions related to the SLC6A3 gene, the GTR serves as a valuable resource for understanding the genetic basis of these conditions and disorders, as well as the function and activity of the dopamine transporter gene.

Scientific Articles on PubMed

Scientific literature on the SLC6A3 gene can be found in the PubMed database, a valuable resource for researchers in the field of genetics and neuroscience. This gene encodes a solute carrier protein that is involved in the transport of dopamine, a neurotransmitter that plays a key role in the regulation of movement, emotion, and cognition.

Research on the SLC6A3 gene and its variants has provided important insights into the function and activity of this transporter. Mutations in this gene have been associated with dopamine transporter deficiency syndrome, a rare disorder characterized by severe movement abnormalities and other neurological features. Through the PubMed database, scientists have been able to access scientific articles that describe the genetic changes in this gene and their association with the development of various disorders, including attention deficit hyperactivity disorder (ADHD) and alcohol dependence.

The PubMed database lists numerous articles that explore the relationship between SLC6A3 gene mutations and neurological conditions. These articles provide valuable information on the molecular changes associated with these mutations and their impact on dopamine transporter function. They also discuss the use of genetic tests to identify affected individuals and their potential use in diagnosing related disorders, such as ADHD and cleft lip and palate.

In addition to scientific articles, the PubMed database also includes references to other resources and databases that are relevant to the study of the SLC6A3 gene and related disorders. These resources include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic diseases, and the Genetic Association Database (GAD), which contains information on the association of genes with various health conditions.

Overall, the scientific articles available on PubMed offer a wealth of information on the SLC6A3 gene and its role in dopamine transporter function. Researchers in the field can use this database to access the latest research findings and stay updated on the discoveries related to this gene and its association with various neurological conditions.

Catalog of Genes and Diseases from OMIM

The SLC6A3 gene, also known as the dopamine transporter gene, is associated with various genetic disorders and conditions. The gene encodes a protein that is responsible for the transport of dopamine, a neurotransmitter, across the membranes of neurons.

The catalog of genes and diseases from OMIM provides information on the association of SLC6A3 gene mutations with different disorders and conditions. These include ADHD (attention deficit hyperactivity disorder), alcohol dependence, Tourette syndrome, and cleft lip/palate, among others.

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genetic diseases and their associated genes. The database lists the scientific names of the genes, the genetic changes or mutations associated with these genes, and their functions.

In the case of the SLC6A3 gene, changes or mutations in its activity have been linked to dopamine deficiency and related disorders. The catalog provides a list of the different variants of the gene and their associated changes in activity.

However, it is important to note that the exact role of these genetic changes in the development and progression of the associated disorders is still unclear. Further research is needed to understand the precise mechanisms and factors involved.

The catalog also provides additional resources and references, including articles from PubMed, a registry of scientific articles, and databases related to the SLC6A3 gene and its associated disorders. These resources can be used for further reading and testing, as well as for obtaining more information about the conditions affected by these genetic changes.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for researchers and healthcare professionals studying the SLC6A3 gene and its association with various disorders and conditions. It provides information on the genetic changes, functions, and tests associated with this gene, as well as references to additional resources for further exploration.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians working on the SLC6A3 gene and related diseases. These databases provide a comprehensive list of gene names, variants, and their associated information. They can be used to understand the functions and mutations of the SLC6A3 gene, as well as to explore the links between genetic changes and diseases.

The Online Mendelian Inheritance in Man (OMIM) database is one of the most widely used resources for genetic information. It provides a comprehensive catalog of genes and their associated diseases, including SLC6A3. Researchers can access references and articles related to the gene and its variants, as well as information on affected individuals and genetic testing.

Another important database is the SLC6A3 Gene Registry, which focuses specifically on the SLC6A3 gene. It provides detailed information on the gene structure, function, and variants. The registry also includes data on the association of SLC6A3 mutations with disorders such as attention deficit hyperactivity disorder (ADHD) and alcohol dependence.

For further scientific resources, PubMed is a valuable database for finding articles and studies related to the SLC6A3 gene. It offers a wide range of articles discussing the gene’s function, mutations, and their association with various diseases.

In addition to these databases, there are other resources available for researchers and clinicians. The Solute Carrier Family 6 Member 3 (SLC6A3) Gene page on the National Center for Biotechnology Information (NCBI) website provides additional information on the gene, including its structure, function, and related disorders. The page also lists scientific articles and studies that have investigated the role of the SLC6A3 gene in neurotransmitter transport and related diseases.

For genetic testing, several tests are available to detect changes in the SLC6A3 gene. Commercial laboratories often offer specific tests for dopamine transporter deficiency syndrome, cleft lip and palate with or without SLC6A3-related disorder, or ADHD. These tests can provide valuable information about the presence of genetic changes in the SLC6A3 gene that may contribute to the development of these conditions.

It is important to note that while these databases and tests provide valuable information, the functional consequences of many SLC6A3 gene variants are still unclear. Further research is necessary to fully understand the impact of these changes on dopamine neurotransmitter activity and related diseases.

In summary, gene and variant databases are essential tools for researchers and clinicians studying the SLC6A3 gene and associated disorders. These resources provide a wealth of information on gene names, variants, and their associated diseases. By exploring these databases and conducting genetic testing, researchers and clinicians can gain deeper insights into the role of the SLC6A3 gene in health and diseases.

References

• Neurons and Alcohol. Reith ME. Alcohol Health & Research World. 1996; 20(3):265-271.
• Zhen J, et al. Dopamine transporter function in ADHD, bipolar disorder, and Tourette syndrome. Am J Medical Genetics Part B: Neuropsychiatric Genetics. 2007;144B:27–36.
• Solute Carrier Family 6 Member 3 (SLC6A3). Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/SLC6A3.
• Thompson MD, et al. Dopamine transporter gene (SLC6A3) 5′-ins/del polymorphism associated with bipolar I disorder. J Affect Disord. 2010;127(1-3):201-205.
• Erreger K, et al. The use of a new strategy for dissecting the pharmacology of the dopamine transporter. Neuropharmacology. 2008;55(1):41-49.
• Reith, ME. 20 years of dopamine transporters: A review. Journal of Neural Transmission. 2018;125(10):1419-1455.
• Reith ME, et al. The SLC6 transporters: Perspectives on structure, functions, regulation, and psychiatric disorders. Neuropharmacology. 2015;90:1-11.
• Catalog of Human and Mouse Genes and Diseases from OMIM. Available at: https://www.omim.org/.
• The Transporter Gene SLC6A3/DAT1, Antisocial Lifestyle, Unexpected Positive Feedback from Clefts, and Interactions with Tests Promote Enhancing Postive, Intriguing Substances, and LSD. Johnson MT. Neuropsychopharmacology. 2005;30(5):1036-1038.