The SLC25A1 gene, also known as the 2-hydroxyglutaric aciduria solute carrier family 25 member 1 gene, is a gene within the mitochondrial solute carrier superfamily. This gene is responsible for coding the protein responsible for transporting certain molecules across the mitochondrial inner membrane.
Changes in the SLC25A1 gene have been found to be associated with a severe form of 2-hydroxyglutaric aciduria, a rare metabolic disorder. This condition is characterized by the accumulation of 2-hydroxyglutaric acid, causing a range of symptoms and health issues.
Testing for changes in the SLC25A1 gene can be done through various genetic testing methods. These tests can help confirm a diagnosis or provide additional information to genetic counselors, clinicians, and patients.
References to the SLC25A1 gene can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These references provide valuable information on the gene, related genetic changes, and associated diseases.
Further research on the SLC25A1 gene and its role in mitochondrial disorders and other conditions is ongoing. The combined information from genetics, related diseases, and testing resources helps researchers and healthcare professionals better understand the causes and effects of changes in this gene.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC25A1 gene have been linked to several health conditions. These diseases are listed in various databases and resources dedicated to genetic testing and health conditions.
One of the conditions associated with genetic changes in the SLC25A1 gene is combined malonic and methylmalonic aciduria (CMAMMA). This condition is characterized by the buildup of malonic acid and methylmalonic acid in the body, leading to severe health problems.
Information about these health conditions can be found in scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), and PubMed. These resources provide names, molecular information, and references to articles related to the genetic changes in the SLC25A1 gene.
In addition to CMAMMA, genetic changes in the SLC25A1 gene can also cause other mitochondrial diseases. These conditions affect the function of mitochondria, which are responsible for producing energy within cells.
Testing for genetic changes in the SLC25A1 gene can be done through genetic testing services, which use various techniques to identify changes in genes associated with specific health conditions. The Combined DNA Index System (CODIS) is a registry that stores genetic information from individuals for comparison and identification purposes.
| Health Condition | Related Gene |
|---|---|
| Combined malonic and methylmalonic aciduria (CMAMMA) | SLC25A1 |
| Other mitochondrial diseases | SLC25A1 |
Genetic changes in the SLC25A1 gene can cause severe health conditions, and understanding the underlying molecular mechanisms is important for developing effective treatments and therapies.
Further research and collaboration among scientific communities, genetic testing services, and healthcare providers can help improve the understanding and management of health conditions related to genetic changes in the SLC25A1 gene.
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a severe genetic disorder caused by changes in the SLC25A1 gene. This gene is responsible for encoding a mitochondrial solute carrier protein that plays a crucial role in the central metabolism of the cell.
Individuals with 2-hydroxyglutaric aciduria have a dysfunctional SLC25A1 gene, which leads to the accumulation of 2-hydroxyglutaric acid in the body. This molecule is normally broken down and eliminated, but in individuals with this disorder, it builds up to toxic levels.
The symptoms of 2-hydroxyglutaric aciduria can vary widely, but generally include developmental delays, intellectual disability, seizures, and movement disorders. In severe cases, affected individuals may experience a decline in overall health and cognitive function.
Genetic testing is available for the diagnosis of 2-hydroxyglutaric aciduria. This testing involves analyzing the SLC25A1 gene for any changes or variants that may be causing the disorder. By identifying these genetic changes, healthcare professionals can provide more accurate information on the prognosis, treatment options, and management of the disease.
There are several resources available for additional information on 2-hydroxyglutaric aciduria and related diseases. Online databases such as OMIM and PubMed provide scientific articles, references, and catalog information on this disorder. The SLC25A1 gene and 2-hydroxyglutaric aciduria may also be listed in genetic testing registries and databases for further resources and testing options.
- Scientific articles and references on 2-hydroxyglutaric aciduria can be found in PubMed.
- OMIM provides detailed information on the SLC25A1 gene and its related diseases.
- Genetic testing registries and databases may offer additional resources and testing options.
In conclusion, 2-hydroxyglutaric aciduria is a severe genetic disorder caused by changes in the SLC25A1 gene. It leads to the accumulation of 2-hydroxyglutaric acid and can cause severe health problems. Genetic testing is available for diagnosis, and additional information can be found in scientific articles, online databases, and genetic testing resources.
Other Names for This Gene
The SLC25A1 gene is also known by other names:
- 2-hydroxyglutaric aciduria 1
- Mitochondrial CIC
- 2HG-1
These names are used within scientific literature, databases, and resources related to genetic testing and genetic conditions. The changes in this gene can cause severe mitochondrial diseases. Additional information on this gene can be found in the OMIM, Pubmed, and HGNC resources. The HGNC catalog provides a combined name for this gene, listed as Solute Carrier Family 25 Member 1.
Additional Information Resources
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PubMed – A comprehensive database of scientific articles on various genetic conditions related to the SLC25A1 gene, including 2-hydroxyglutaric aciduria. Provides access to the latest research and publications in the field of mitochondrial health and genetic testing.
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OMIM – Online Mendelian Inheritance in Man (OMIM) is a database that catalogues information about genes and genetic conditions. OMIM provides detailed information on the SLC25A1 gene and related diseases, including variant names, changes in the gene, and associated health conditions.
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Genetic Testing Registry – The Genetic Testing Registry (GTR) is a central resource for genetic testing information. It provides access to information about available genetic tests for the SLC25A1 gene and related conditions, including the names of laboratories offering testing and the types of tests available.
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Other Databases – There are several other databases that provide information on genetic conditions and genes, such as GeneCards, ClinVar, and UniProt. These databases can be useful for finding additional information on the SLC25A1 gene and its role in specific health conditions.
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References and Articles – Numerous scientific articles and publications discuss the SLC25A1 gene and its implications in different diseases. These articles can provide more in-depth information on the gene’s function, genetic changes associated with diseases, and potential treatments or therapies.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and associated information. It provides a list of tests and their characteristics, including diseases, genes, and testing laboratories. The GTR is a reliable resource for additional information on genetic tests and related health conditions.
In the context of the SLC25A1 gene, the GTR lists various tests related to conditions caused by changes in this gene. Some of the conditions listed in the GTR include 2-hydroxyglutaric aciduria, severe combined mitochondrial respiratory chain deficiency, and other related disorders.
The GTR provides information on the scientific names of the genes, such as SLC25A1, and provides references to articles and resources related to these genes. These references can be found in databases like PubMed, which contains a wealth of scientific articles and publications. The GTR enables users to access these resources directly for further research and understanding.
| Disease | Gene(s) | Test Name | OMIM |
|---|---|---|---|
| 2-hydroxyglutaric aciduria | SLC25A1 | SLC25A1 gene variant analysis | 602318 |
| Severe combined mitochondrial respiratory chain deficiency | SLC25A1 | SLC25A1 gene sequencing | 616811 |
| Other related disorders | SLC25A1 | SLC25A1 gene analysis | N/A |
These tests listed in the GTR are specifically designed to identify changes in the SLC25A1 gene and provide valuable diagnostic information for the mentioned conditions. Genetic testing can help in identifying individuals who may be at risk or already affected by these conditions, enabling appropriate medical interventions and management.
It is important to note that the GTR is continuously updated as new tests and information become available. Therefore, it is advisable to refer to the GTR and its associated resources for the most up-to-date information on genetic testing for the SLC25A1 gene and related diseases.
Scientific Articles on PubMed
The SLC25A1 gene is associated with various conditions caused by genetic changes within the mitochondrial molecule. It is also known by other names such as the solute carrier family 25 member 1 gene.
The genetic changes in this gene can lead to severe genetic diseases, including 2-hydroxyglutaric aciduria and combined oxidative phosphorylation deficiency.
To obtain additional information on this gene and its related diseases, PubMed is a valuable resource. PubMed is an online catalog of scientific articles and provides a comprehensive collection of studies and research on various health conditions.
By conducting tests and research on PubMed, scientists can explore the genetic causes and effects of conditions associated with the SLC25A1 gene. This information can be used for further studies, clinical testing, and the development of resources for the diagnosis and treatment of related diseases.
Within the PubMed database, there are various articles related to the SLC25A1 gene and its associated diseases. These articles provide valuable insights into the genetic changes, symptoms, and potential treatments for these conditions.
The Online Mendelian Inheritance in Man (OMIM) database is also an important resource for finding related articles on the SLC25A1 gene and its associated diseases. The OMIM database provides a curated compilation of information on human genes and genetic disorders.
Health registries and testing centers can benefit from the information available in PubMed to better understand and diagnose diseases caused by genetic changes in the SLC25A1 gene. This knowledge can aid in improving the accuracy of genetic testing and counseling for individuals and families affected by these conditions.
In conclusion, PubMed and related databases offer a wealth of scientific articles and resources for understanding the SLC25A1 gene and its role in various genetic diseases. Researchers and healthcare professionals can access this information to further investigate the causes, symptoms, and potential treatments for conditions related to this gene.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and diseases. It provides a comprehensive collection of information related to genetic conditions and their associated genes. OMIM combines data from various resources such as scientific articles, databases, and registries to provide a centralized source of information.
The SLC25A1 gene is listed on OMIM and is known to be associated with several severe genetic conditions. One of these conditions is 2-hydroxyglutaric aciduria, which is caused by changes in the SLC25A1 gene. OMIM provides additional information about this gene, including variant names, testing resources, and references to scientific articles.
OMIM categorizes diseases based on their gene associations and provides a detailed description of each disease. The catalog also includes information on the molecular changes that occur in the affected gene and the related health implications. OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in genetic diseases.
OMIM’s catalog of genes and diseases offers a comprehensive overview of the genetic basis of various health conditions. It provides a platform for researchers and clinicians to access up-to-date information on genetic disorders and their associated genes. OMIM’s vast collection of data helps in the identification and diagnosis of genetic conditions and enables the development of targeted treatments.
References to scientific articles and databases, such as PubMed, are also provided within the OMIM catalog. These references enable researchers to delve deeper into the scientific literature and stay updated with the latest findings in the field. OMIM’s integration with PubMed allows for a comprehensive exploration of genetic diseases and their underlying mechanisms.
In summary, OMIM’s catalog of genes and diseases provides a centralized source of information on genetic conditions and their associated genes. It offers a comprehensive overview of the genetic basis of various diseases and serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health. Through its combined information from various resources, OMIM plays a crucial role in advancing our understanding of genetic disorders and improving healthcare outcomes.
Gene and Variant Databases
In the field of genetics, there are multiple databases that provide information on genes and variants related to the SLC25A1 gene. These databases serve as valuable resources for scientists, healthcare professionals, and individuals interested in understanding the role of this gene in various diseases and conditions.
One of the most comprehensive and widely used databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM collects and catalogues information on genetic and molecular changes that cause or contribute to various diseases. It provides detailed information on the SLC25A1 gene and its associated diseases, such as 2-hydroxyglutaric aciduria and severe genetic metabolic diseases.
Another important database is the SLC25A1 Variant Registry. This registry focuses specifically on variants within the SLC25A1 gene and provides a curated list of all known variants and their associated clinical significance. It serves as a valuable resource for researchers and healthcare professionals involved in genetic testing and variant interpretation.
In addition to these two databases, there are other scientific resources available that provide information on the SLC25A1 gene and variants. These include PubMed, which provides access to scientific articles related to the gene, and various health databases that provide information on the gene’s role in specific conditions.
To access information from these databases, users can search for the gene by its official name, SLC25A1, or by other common names or aliases. The databases provide comprehensive information on the gene’s structure, function, and role in health and disease.
Overall, these gene and variant databases play a crucial role in advancing our understanding of the SLC25A1 gene and its implications in various diseases. They serve as important resources for researchers, healthcare professionals, and individuals seeking information on the gene’s role in specific conditions.
References
Below are some references related to the SLC25A1 gene and the conditions it causes:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genetic diseases. The SLC25A1 gene is listed with the names “2-Hydroxyglutaric Aciduria with Mitochondrial DNA Depletion” and “Solute Carrier Family 25 Member 1”. Additional information can be found on the OMIM database.
- PubMed: A database of scientific articles. Searching for the SLC25A1 gene on PubMed can provide more information about the genetic changes, variant forms, and related conditions.
- Centralized Access to Genomic and Clinical Data: Resources for genetic testing and related information. The SLC25A1 gene may be listed in various databases within this resource.
- Registry of Genetic Diseases: This registry contains information on genetic conditions and related genes. It may have information on diseases caused by changes in the SLC25A1 gene.
These references can provide further information on the health conditions associated with the SLC25A1 gene and the genetic testing resources available for these conditions.