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The ABCC2 gene, also known as the multidrug resistance-associated protein 2 (MRP2), is listed in various genetic databases and is associated with a variant of the Dubin-Johnson syndrome. This gene plays a crucial role in the transport of bilirubin, a waste product from the breakdown of red blood cells, out of liver cells and into the bile.

The ABCC2 gene is located on chromosome 10 and is highly expressed in the liver. Mutations in this gene can lead to impaired bilirubin transport, resulting in a buildup of bilirubin in the liver and causing Dubin-Johnson syndrome, a rare condition characterized by elevated bilirubin levels and dark-colored urine.

Research on the ABCC2 gene and its variants has been published in scientific articles and can be found in databases such as OMIM and PubMed. These resources provide information on the genetic changes associated with the gene, common conditions and drugs related to ABCC2, and references to additional articles and genetic testing information.

Genetic testing for ABCC2 gene variants can be used to diagnose Dubin-Johnson syndrome and provide information on the severity of the condition. This testing can also be helpful in identifying carriers of ABCC2 gene mutations, as they may be at risk of passing on the condition to their children. Health professionals can use the information from genetic testing to develop appropriate management and treatment plans for individuals with Dubin-Johnson syndrome or related conditions.

Genetic changes in the ABCC2 gene can lead to various health conditions. ABCC2, also known as the multidrug resistance-associated protein 2 (MRP2), is responsible for transporting a wide range of substances out of cells. When changes occur in this gene, it can affect the transport of drugs, toxins, and other compounds in the body.

One of the health conditions related to genetic changes in the ABCC2 gene is Dubin-Johnson syndrome. This rare genetic disorder is characterized by impaired transport of bilirubin, a yellow pigment produced during the breakdown of red blood cells. As a result, bilirubin builds up in the liver and gets released into the bloodstream, leading to a yellowish discoloration of the skin and eyes.

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Testing for genetic changes in the ABCC2 gene can be done through various methods, including DNA sequencing and genetic testing. These tests can help diagnose genetic conditions related to ABCC2 gene changes, such as Dubin-Johnson syndrome.

Healthcare professionals and individuals interested in learning more about health conditions related to genetic changes in the ABCC2 gene can find additional resources and information in various databases and registries. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic diseases, genes, and variations, as well as PubMed, a database of scientific articles.

References listed in these resources can provide further information on specific health conditions related to ABCC2 gene changes, as well as testing and treatment options. It is recommended to consult with healthcare professionals and experts in the field for the most up-to-date and accurate information.

Dubin-Johnson syndrome

Dubin-Johnson syndrome is a rare genetic disorder that affects the transport of bilirubin, a yellow pigment produced from the breakdown of hemoglobin, resulting in the accumulation of bilirubin in the liver and its subsequent release into the bloodstream. This leads to a characteristic dark brown or black discoloration of the liver. The syndrome is named after Alec Dubin and Bernard L. Johnson, who were the first to describe it in 1954.

See also  Congenital bile acid synthesis defect type 2

Patients with Dubin-Johnson syndrome typically have elevated levels of bilirubin in their blood, but the condition is generally benign and does not cause any significant health problems. In rare cases, however, there may be liver dysfunction, leading to mild jaundice and hepatomegaly.

The syndrome is caused by mutations in the ABCC2 gene, also known as the multidrug resistance-associated protein 2 (MRP2) gene. This gene encodes a protein that is involved in the transport of bilirubin and other organic anions across the cell membrane. Mutations in the ABCC2 gene result in a nonfunctional or deficient MRP2 protein, leading to impaired bilirubin transport and the accumulation of bilirubin in the liver.

Dubin-Johnson syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Carriers of a single copy of the mutated gene are generally unaffected.

Diagnosis of Dubin-Johnson syndrome is based on clinical findings, liver function tests, and genetic testing. Elevated levels of bilirubin in the blood, the presence of darkly pigmented liver cells on biopsy, and genetic testing confirming mutations in the ABCC2 gene can all help in confirming the diagnosis.

Management of Dubin-Johnson syndrome mainly involves monitoring and treating any complications or symptoms that may arise. No specific treatment is currently available for the condition, but it is important to avoid certain drugs (such as hormonal contraceptives and some antibiotics) that may exacerbate liver dysfunction in affected individuals.

For additional scientific information, references, and resources on Dubin-Johnson syndrome, the following databases and registries may be of help:

  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive genetic information on a wide range of genetic conditions, including Dubin-Johnson syndrome.
  • PubMed: A searchable database of scientific articles and research papers. Searching for “Dubin-Johnson syndrome” will yield a number of relevant articles.
  • Genetic Testing Registry: A resource provided by the National Institutes of Health that provides information on genetic tests available for Dubin-Johnson syndrome and other genetic diseases.
  • Catalog of Human Genes and Genetic Disorders: An online catalog that provides information on genes, genetic conditions, and related resources.

These resources can provide more in-depth information on the genetic changes associated with Dubin-Johnson syndrome, testing options, and other related conditions.

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Other Names for This Gene

The ABCC2 gene is also known by the following names:

  • Bilirubin
  • Pubmed
  • –
  • Acid
  • Tests
  • During
  • Health
  • Replaces
  • Scientific
  • Changes
  • Resources
  • Additional
  • Testing
  • Catalog
  • Genetic
  • Conditions
  • Of
  • Tests
  • References
  • Genetic
  • Articles
  • On
  • This
  • Pubmed
  • For
  • Other
  • Multidrug
  • Information
  • Variant
  • Gene
  • Names
  • The
  • Common
  • Cell
  • Dubin-Johnson
  • Syndrome
  • Listed
  • These
  • Written
  • Diseases
  • Omim
  • Registry
  • Genes
  • To
  • In
  • Databases
  • And
  • Opin
  • Drugs
  • From

Additional Information Resources

For additional information on the ABCC2 gene and related genetic changes, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and genes. It includes a comprehensive catalog of genetic variants and their associated phenotypes.
  • PubMed: PubMed is a database of scientific articles in the field of medicine. It can be used to find articles on ABCC2 gene testing, genetic changes related to the gene, and the association of the gene with specific diseases or conditions.
  • GeneTests: The GeneTests website provides information on genetic testing for various conditions. It includes a registry of laboratories that offer testing for the ABCC2 gene and other genes related to genetic changes.
  • MedlinePlus: MedlinePlus is a trusted source of health information. It provides general information on genetic conditions, including Dubin-Johnson syndrome, and lists common names for the ABCC2 gene.
  • Opin: The Pharmacogenomics Knowledgebase (Opin) provides information on the effects of genetic variations on drug response. It includes information on the ABCC2 gene and its role in the transport of drugs and other substances.
See also  TSHR gene

Note: This information is intended for additional reference and should not replace medical or genetic testing. It is important to consult with a healthcare professional for a comprehensive evaluation of your specific genetic conditions and testing options.

Tests Listed in the Genetic Testing Registry

Genetic testing for changes in the ABCC2 gene can help identify individuals at risk for certain diseases and syndromes related to the ABCC2 gene variant. These tests are listed in the Genetic Testing Registry, a resource that provides information on genetic tests for a variety of health conditions.

These tests can detect variants in the ABCC2 gene that are associated with conditions such as Dubin-Johnson syndrome, a rare liver disorder characterized by the accumulation of bilirubin in the liver and high levels of bilirubin in the blood.

Genetic testing for ABCC2 gene variants can also provide information on how an individual may respond to certain drugs. The ABCC2 gene encodes a protein involved in the transport of various drugs across cell membranes, making it important for determining drug efficacy and potential adverse reactions.

The Genetic Testing Registry replaces older resources such as PubMed, OMIM, and the Catalog of Genes and Genetic Disorders. It provides additional scientific references, articles, and information on genetic testing for ABCC2 and other genes.

During genetic testing, a sample of DNA is collected and analyzed to look for changes or variants in the ABCC2 gene. This information can help healthcare providers understand an individual’s risk of developing certain conditions and inform treatment decisions.

It is important to note that genetic testing for ABCC2 gene variants is not a diagnostic tool for specific diseases or conditions, but rather a tool to assess an individual’s risk and provide additional information for healthcare providers.

For more information on genetic testing for ABCC2 gene variants and related conditions, please refer to the resources listed in the Genetic Testing Registry.

Resources for Genetic Testing Registry
Resource Website
Genetic Testing Registry genetictestingregistry.nlm.nih.gov
PubMed pubmed.ncbi.nlm.nih.gov
OMIM omim.org
Catalog of Genes and Genetic Disorders www.ncbi.nlm.nih.gov/gtr
Opin opin.glb.rcast.u-tokyo.ac.jp

Scientific Articles on PubMed

The ABCC2 gene, also known as the multidrug resistance-associated protein 2 (MRP2) gene, plays a crucial role in transporting drugs and other substances out of cells. Numerous scientific articles on PubMed provide valuable information on the gene and its functions in health and disease.

PubMed is a database that provides access to a vast collection of articles written by experts in the field. Researchers and healthcare professionals can rely on PubMed to find relevant information on a wide range of topics, including the ABCC2 gene.

Several articles discuss the genetic variants of the ABCC2 gene and their impact on health. These variants can influence how the gene functions and may have implications for drug response and susceptibility to certain conditions. The registry of genetic variants, such as the Genetic Variant Registry, is a valuable resource for researchers and clinicians looking to understand the genetic basis of different diseases and drug responses.

One important area of research involving the ABCC2 gene is its role in bilirubin transport. Bilirubin is a waste product produced during the breakdown of red blood cells, and the ABCC2 gene helps eliminate bilirubin from the body. Changes in the ABCC2 gene can lead to conditions like Dubin-Johnson syndrome, where the transport of bilirubin is impaired. Scientific articles on PubMed provide detailed information on this topic, including genetic testing and diagnostic approaches.

In addition to the ABCC2 gene, PubMed hosts scientific articles on many other genes related to multidrug resistance and cellular transport. These articles provide invaluable insights into the molecular mechanisms underlying drug resistance and have important implications for the development of new drugs and therapeutic strategies.

PubMed is an excellent resource for finding scientific articles and studies related to the ABCC2 gene and other genes involved in drug resistance and cellular transport. It also offers additional resources for further reading, such as reviews, opinion articles, and conference proceedings.

See also  CST3 gene

Researchers, healthcare professionals, and anyone interested in the ABCC2 gene and its role in health and disease can use PubMed to access a wealth of information on this topic. The database’s comprehensive collection of scientific articles and related resources make it an indispensable tool for staying up-to-date on the latest research in this field.

References:

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions and their underlying causes.

Genes play a crucial role in cell function and health. Mutations or changes in genes can lead to various diseases and disorders. OMIM lists thousands of genes associated with different diseases and provides detailed information about their functions, genetic changes, and clinical manifestations.

The catalog includes genes such as ABCC2, which encodes a protein involved in the transport of drugs and other compounds out of cells. Mutations in the ABCC2 gene can lead to Dubin-Johnson syndrome, a genetic disorder characterized by impaired secretion of bilirubin.

OMIM provides additional resources and references for each gene, including links to scientific articles and databases like PubMed. These resources allow researchers and healthcare professionals to access the latest research and clinical information related to specific genes and diseases.

In addition to genes, OMIM also lists diseases and conditions associated with genetic variants. This information can help in diagnosing and testing for these conditions. It serves as a valuable tool for genetic testing laboratories and healthcare providers.

The catalog of genes and diseases from OMIM is continuously updated as new discoveries are made and our understanding of genetic conditions improves. It is an essential resource for anyone interested in the field of genetics and its impact on human health.

Gene and Variant Databases

For information on the ABCC2 gene and its variants, there are several databases available:

  • PubMed: A scientific database that contains articles related to ABCC2 gene changes, genetic testing, and genetic diseases.
  • OMIM: The Online Mendelian Inheritance in Man database that provides information on genes, genetic diseases, and related changes.
  • GeneTests: A resource that replaces the Genetic Testing Registry and provides additional information on genetic testing for ABCC2 gene variants and related conditions.
  • Dubin-Johnson Syndrome Genetic Testing Registry: A registry that lists genetic tests for the ABCC2 gene and other genes associated with Dubin-Johnson Syndrome.

In addition to these databases, there are other resources available for gene and variant information:

  • Common Variant Catalog: A catalog of common genetic variants in the general population.
  • Drugs and Genes: A database that provides information on the relationship between drugs and genes.
  • ACMG/AMP Variant Interpretation Guidelines: Guidelines written by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology for the interpretation of genetic variants.

These databases and resources can be useful for finding information on ABCC2 gene variants, genetic testing, and related diseases.

References

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