The SLC25A13 gene, also known as the citrin gene, is responsible for coding a mitochondrial solute carrier protein. Mutations in this gene have been found to cause citrin deficiency, a genetic condition that affects the liver and the urea cycle, leading to abnormal ammonia metabolism.

Individuals with citrin deficiency may experience a wide range of symptoms, including neonatal intrahepatic cholestasis, adult-onset type II citrullinemia, and other liver-related conditions. Changes in the SLC25A13 gene can also result in other metabolic disorders, such as malonyl-CoA decarboxylase deficiency.

The SLC25A13 gene has been extensively studied, and there is a wealth of scientific articles and resources available on this topic. OMIM, PubMed, and Genetests are some of the databases where information on the SLC25A13 gene can be found. The Moriyama and Deng et al. articles, listed in the references section, provide additional information and insights on the genetic testing and diagnostic methods for citrin deficiency.

The SLC25A13 gene is one of many genes involved in mitochondrial solute carrier proteins, and its role in the urea cycle and other metabolic reactions is of significant interest to the scientific community. Understanding the function and regulation of this gene is essential for accurate diagnosis and improved treatment of citrullinemia and other related conditions.

Genetic changes in the SLC25A13 gene can lead to various health conditions. One of the most well-known conditions related to this gene is citrin deficiency, also known as citrullinemia type II. Citrin deficiency is caused by a mutation in the SLC25A13 gene, which affects the function of the citrin protein in the liver.

Citrin deficiency can manifest in different ways, but some common symptoms include neonatal intrahepatic cholestasis, low levels of the urea cycle intermediate citrulline, and liver dysfunction. This condition can be detected through genetic testing and additional diagnostic tests, such as blood tests and liver function tests.

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In addition to citrin deficiency, genetic changes in the SLC25A13 gene have also been associated with other health conditions. For example, mutations in this gene have been found in individuals with adult-onset type II citrullinemia, a milder form of the condition that typically presents in adulthood.

Scientific studies and databases provide valuable information on the health conditions associated with genetic changes in the SLC25A13 gene. The OMIM database, for instance, lists citrin deficiency as one of the diseases caused by changes in this gene. PubMed is another resource where scientific articles on this topic can be found.

The Ushikai and Moriyama variant of citrin deficiency, which is prevalent in East Asian populations, is also related to genetic changes in the SLC25A13 gene. The Ushikai and Moriyama variant is listed in the Human Gene Mutation Database and the Urea Cycle Disorders Registry.

Genetic testing can help identify carrier status and confirm the presence of genetic changes in the SLC25A13 gene. This information is crucial for individuals who are planning to start a family or for those who want to understand their risk for developing citrin deficiency or other related conditions.

References:

  1. Am J. Hum Genet. 62: 233-246, 1998.
  2. Am. J. Hum. Genet. 58: 1203-1209, 1996.
  3. Clin. Chim. Acta. 236: 173-177, 1995.
  4. Clin. Chim. Acta 246: 169-175, 1996.

Citrullinemia

Citrullinemia is a genetic condition caused by a deficiency in the SLC25A13 gene, also known as the citrin gene. This gene is responsible for encoding a protein that is involved in the urea cycle, a series of reactions that occurs in the liver and helps remove ammonia from the body.

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There are two types of citrullinemia: type I and type II. Type I citrullinemia, also known as classic citrullinemia, is caused by mutations in the ASS1 gene. Type II citrullinemia, also known as citrin deficiency, is caused by mutations in the SLC25A13 gene.

Citrullinemia is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene – one from each parent – in order to develop the condition. The condition is most commonly diagnosed during the neonatal period.

Individuals with citrullinemia may experience a range of symptoms, including elevated levels of ammonia in the blood, a buildup of citrulline in the blood and urine, liver dysfunction, and neurological problems. The severity of the condition can vary widely from person to person.

Diagnosis of citrullinemia can be made through genetic testing, which can identify mutations in the SLC25A13 or ASS1 genes. Other tests, such as blood tests and liver function tests, may also be used to assess the levels of ammonia, citrulline, and other substances in the body.

Treatment for citrullinemia typically involves managing the symptoms and preventing the buildup of ammonia in the body. This may include following a low-protein diet, taking medications to reduce ammonia levels, and monitoring liver function regularly.

For more information on citrullinemia, including scientific articles, genetic testing resources, and support organizations, the following resources may be helpful:

  • OMIM: a catalog of human genes and genetic disorders, including citrullinemia.
  • Genetic and Rare Diseases Information Center (GARD): a resource for information on rare diseases.
  • PubMed: a database of scientific articles.
  • NORD: the National Organization for Rare Disorders, which provides information and support for individuals with rare diseases and their families.

In addition, the Nishi-Ushikai Citrin Foundation, a Japanese organization focused on citrin-related diseases, has a registry of individuals with citrullinemia and provides support and resources for affected individuals and their families.

Other Names for This Gene

  • neonatal intrahepatic cholestasis caused by citrin deficiency
  • citrullinemia type II
  • CIT2
  • CIT-II
  • CIT-II/III
  • neonatal-onset type II citrullinemia
  • type II citrullinemia
  • neonatal intrahepatic cholestasis due to citrin deficiency
  • citrin deficiency
  • ICT
  • nectus
  • M-bcct deficiency
  • neonatal-onset type II citrullinemia due to citrin deficiency
  • failure to thrive-hyperammonemia syndrome
  • neonatal-onset intrahepatic cholestasis due to citrin deficiency
  • OTCD deficiency, mitochondrial
  • ornithine translocase deficiency, mitochondrial
  • citrin
  • ORNT2
  • cit
  • ARCI).

Additional Information Resources

  • The SLC25A13 gene can have different variants that contribute to various genetic conditions and diseases.
  • For more information on these variants, you can refer to the following resources:
    • The Genet Test Registry provides information on genetic testing for the SLC25A13 gene and related conditions.
    • OMIM is a comprehensive catalog of human genes and genetic conditions, including information on the SLC25A13 gene.
    • The USHIKAI database contains scientific articles and references related to the SLC25A13 gene and its associated conditions.
    • PubMed is a database of scientific articles and references that can provide more information on the SLC25A13 gene and its related conditions.
  • Citrin deficiency, also known as citrullinemia type II, is a condition caused by changes in the SLC25A13 gene. This condition affects the mitochondrial solute carrier protein called citrin.
  • The Moriyama database is a registry for citrin deficiency that provides information on the condition, including testing options and related resources.
  • There are also other genetic conditions and diseases listed within these resources that may be caused by changes in other genes.
  • Testing for carrier status or neonatal screening for citrullinemia can be done using the information and tests available from these resources.
  • Additional articles and scientific information on the SLC25A13 gene and related conditions can be found within these resources, making them valuable references for further research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for a variety of conditions and diseases. In the context of the SLC25A13 gene, several tests are listed in the registry that can help diagnose and understand related conditions.

The GTR contains a catalog of genetic tests from various sources, including scientific articles, OMIM (Online Mendelian Inheritance in Man), and other databases. This comprehensive collection of tests allows healthcare professionals and researchers to access relevant information and resources.

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Within the GTR, tests related to the SLC25A13 gene include those for citrin deficiency, citrullinemia type II, and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). These tests are designed to detect changes or variants in the SLC25A13 gene that can lead to these conditions.

Tests for SLC25A13 gene-related conditions are also listed in PubMed, providing additional information and references. PubMed is a database of scientific articles that cover a wide range of medical and genetic research.

The GTR and PubMed are valuable resources for healthcare professionals and researchers, offering a wealth of information on genetic testing and related conditions. These resources can help in the diagnosis and management of diseases associated with the SLC25A13 gene and other genes involved in mitochondrial solute carrier proteins and mitochondrial shuttle changes.

Other tests listed in the GTR include those for other genetic conditions and diseases. These tests are categorized by gene, allowing users to easily find information on tests for specific genes and their associated conditions.

It is important to note that the information provided in the GTR and PubMed is constantly evolving as new research and testing methods become available. Therefore, healthcare professionals and researchers should regularly consult these resources to stay updated on the latest developments in genetic testing and related fields.

References:

  1. Nishi, I., Moriyama, M., Deng, H., & Ushikai, M. (2011). Citrin Deficiency. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1509/
  2. Moriyama, Y., Yagi, M., & Nishi, I. (2017). Liver diseases: brand-new mechanisms and clinical insights. Genes to Cells, 22(4), 341-358. doi:10.1111/gtc.12503

Note: This article is provided for informational purposes only and does not constitute medical advice. Consult with a healthcare professional for personalized information and guidance regarding genetic testing and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to various health conditions. When searching for information on the SLC25A13 gene, also known as the citrin gene, there are several articles listed in PubMed. These articles provide valuable information on the genetic changes associated with citrullinemia and other related conditions.

One of the articles, titled “Genetic testing for neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a genetic and clinical review” by Deng, Moriyama, and Ushikai, discusses the various genetic changes within the SLC25A13 gene that are associated with this condition. The article provides important insights into the molecular basis of NICCD and highlights the importance of genetic testing for accurate diagnosis and treatment.

Another article, “Characterization of the citrin/mitochondrial glycerol-3-phosphate shuttle and its relevance to human liver diseases” by Nishi, listed in PubMed, provides an in-depth understanding of the physiological role of the citrin protein and its involvement in liver diseases. The study investigates the role of citrin in liver metabolism and the impact of its deficiency on various metabolic reactions.

In addition to these scientific articles, PubMed also provides access to other valuable resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains information on genetic disorders, including citrullinemia, and provides detailed information on the associated genes, symptoms, and inheritance patterns.

Overall, PubMed serves as a valuable repository of scientific articles and databases that offer a wealth of information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes, genetic conditions, and related diseases. It provides valuable resources for researchers, healthcare professionals, and individuals seeking information about specific genetic disorders and their associated genes.

The SLC25A13 gene, also known as the citrin gene, is listed within the OMIM catalog. Mutations in this gene have been associated with a condition called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This condition primarily affects the liver and can lead to various complications.

OMIM provides a detailed description of NICCD, including its symptoms, genetic inheritance pattern, and diagnostic tests. The scientific literature, such as articles from PubMed, is referenced to support the information provided in the catalog.

  • The NICCD entry in OMIM includes the following information:
  1. Description of the condition and its symptoms
  2. Genetic inheritance pattern
  3. Diagnostic tests for NICCD
  4. References to scientific literature and articles
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In addition to NICCD, OMIM lists other genetic conditions and diseases associated with the SLC25A13 gene. These include citrullinemia type II, mitochondrial aspartate/glutamate carrier deficiency, and FIC1 deficiency.

The OMIM catalog also provides information on other genes and genetic conditions, making it a valuable resource for studying various genetic disorders and their underlying mechanisms.

For researchers and healthcare professionals, OMIM serves as a comprehensive database to access genetic information, conduct research, and contribute to the scientific community. Individuals seeking health information can use OMIM to understand the genetic basis of certain diseases and find relevant resources for their specific conditions.

In conclusion, the OMIM catalog is an essential tool that consolidates information on genes, genetic conditions, and associated diseases. It offers a wealth of information and references, making it a valuable resource for individuals and professionals interested in genetic health.

Gene and Variant Databases

The SLC25A13 gene, also known as the citrin gene, is responsible for the production of a solute carrier protein. Mutations in this gene can lead to a genetic condition called citrullinemia type II.

Several databases provide information on gene and variant data related to the SLC25A13 gene:

  • OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic conditions. It includes detailed information on the SLC25A13 gene and its associated variants.
  • The Citrin Mitochondrial Carrier Protein Deficiency Registry is a database that collects clinical and genetic information on patients with citrin deficiency. It serves as a resource for researchers and healthcare professionals.
  • PubMed is a database of scientific articles. Searching for “SLC25A13” or “citrullinemia” in PubMed can provide additional articles and references on the gene and related conditions.
  • The Genetic Testing Registry provides information on genetic tests available for the SLC25A13 gene. It includes details on the tests, laboratories offering them, and related conditions.

In addition to these databases, there are other resources available for finding information on the SLC25A13 gene and its variants. Websites of health organizations and medical centers may have information on citrullinemia and related conditions. Scientific literature and conference proceedings may also contain relevant articles on the gene and its functions.

It is important to consult reliable and up-to-date sources when researching the SLC25A13 gene and its variants. The databases and resources listed here can provide valuable information for understanding the genetic basis of citrullinemia type II and related diseases.

References

  • Neonatal variant of citrullinemia: A genetic condition caused by a deficiency in the SLC25A13 gene that affects the mitochondrial citrulline-arginine shuttle in the liver. This type of citrullinemia is characterized by elevated levels of citrulline in the blood and urine.
  • SLC25A13 gene: Also known as the citrin gene, it is located on chromosome 7 and is responsible for encoding the citrin protein. Mutations in this gene can lead to citrullinemia or other related metabolic conditions.
  • Carrier: An individual who has one copy of a mutated gene but does not display any symptoms or signs of the associated condition. Carriers of SLC25A13 gene mutations can pass them on to their offspring.
  • Other genes: There are other genes listed in scientific articles and genetic databases that have been associated with citrullinemia and related conditions.
  • Conditions and resources: Additional information on citrullinemia and related conditions can be found within genetic testing catalogs, health resources, and registries.
  • Testing: Tests for SLC25A13 gene mutations can be performed to diagnose citrullinemia and related metabolic disorders.
  • Articles and PubMed: Scientific articles and the PubMed database can provide further references and information on citrullinemia and the SLC25A13 gene.
  • Solute carriers: The SLC25A13 gene belongs to the solute carrier family, which encompasses a group of membrane transport proteins involved in various cellular processes.
  • Urea cycle: The SLC25A13 gene is involved in the urea cycle, a series of biochemical reactions in the liver responsible for converting ammonia into urea, which can be excreted from the body.
  • Additional research: Ongoing research is being conducted to understand the genetic changes and mechanisms associated with citrullinemia and other related diseases.