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The SLCO1B1 gene, also known as the solute carrier organic anion transporter family member 1B1, is responsible for encoding a protein called OATP1B1. This protein is a transporter that helps move substances, such as drugs and other molecules, in and out of cells.

Changes in the SLCO1B1 gene have been linked to various health conditions. One of the most well-known conditions related to this gene is called Rotor syndrome, a disorder characterized by jaundice and the inefficient transport of bilirubin, a substance that helps break down red blood cells.

Testing for SLCO1B1 gene variants can be done through blood tests. This information can provide valuable insights into a person’s health, as certain drugs may be cleared from the body more slowly or efficiently depending on their SLCO1B1 gene function. Understanding these genetic changes can help healthcare professionals make better decisions about which drugs to prescribe and at what dosages to avoid potential side effects.

Additional information about the SLCO1B1 gene can be found in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide references to articles, studies, and other resources related to SLCO1B1, as well as other genes and conditions that may be related or listed as functionally similar.

In conclusion, the SLCO1B1 gene plays a crucial role in the efficient transportation of substances in and out of cells. Genetic changes in this gene can lead to health conditions such as Rotor syndrome. Testing for SLCO1B1 gene variants can provide important information for healthcare professionals when prescribing medications. Various genetic databases and resources offer additional information and references related to SLCO1B1 and its associated disorders.

Genetic changes in the SLCO1B1 gene can lead to various health conditions and disorders. The SLCO1B1 gene is responsible for encoding a protein called organic anion transporting polypeptide 1B1 (OATP1B1), which is involved in the transport of drugs and other substances in the blood.

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One of the health conditions related to genetic changes in the SLCO1B1 gene is Rotor syndrome. This syndrome is a rare genetic disorder characterized by prolonged jaundice (yellowing of the skin and eyes) without any other signs of liver disease. The genetic variant in the SLCO1B1 gene affects the transport function of OATP1B1, leading to the accumulation of bilirubin in the blood.

In addition to Rotor syndrome, genetic changes in the SLCO1B1 gene have also been associated with other health conditions. For example, certain variants in the SLCO1B1 gene have been found to influence the response to certain drugs, including statins used for lowering cholesterol levels. Individuals with certain genetic variants may be at a higher risk of experiencing drug side effects or not responding well to certain medications.

To identify genetic changes in the SLCO1B1 gene, specific tests can be performed. There are several resources available for genetic testing, including scientific databases such as OMIM, PubMed, and the Genetic Testing Registry. These databases provide information on genetic variants, related health conditions, and additional references for further reading.

Furthermore, there are other genes that play a role in drug transport function, such as SLC21A6 (also known as OATP1B3). Genetic changes in these genes can also affect drug transport efficiency and contribute to certain health conditions. Therefore, when considering genetic testing for drug response or related health conditions, it is important to consider multiple genes involved in drug transport functions.

Overall, understanding the genetic changes in the SLCO1B1 gene and other related genes can provide important information for personalized medicine and drug therapy. Genetic testing and additional research in this field can help healthcare professionals make informed decisions regarding drug choices and dosages, improving patient outcomes.

Rotor syndrome

Rotor syndrome is a genetic condition that affects the transport of bilirubin and other substances in the liver. It is related to changes in the SLCO1B1 gene, also called SLC21A6.

This gene provides instructions for making a protein called organic anion transporter protein 1B1 (OATP1B1). This protein is responsible for efficiently clearing drugs and other substances from the blood and transporting them into the liver for further processing.

Individuals with Rotor syndrome have a variant in the SLCO1B1 gene that affects the function of OATP1B1. As a result, bilirubin and other substances are not efficiently cleared from the blood, leading to symptoms such as jaundice.

Testing for Rotor syndrome can be done by evaluating the SLCO1B1 gene variant. This can be done through genetic testing, which looks for changes in the gene associated with the condition. Other tests, such as blood tests, can also be used to diagnose Rotor syndrome.

Additional information on Rotor syndrome can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) provides a catalog of genetic conditions and related genes, including the SLCO1B1 gene. The Genetic and Rare Diseases Information Center (GARD) also provides resources and references for Rotor syndrome and other related diseases.

See also  Genes W

In summary, Rotor syndrome is a genetic condition related to changes in the SLCO1B1 gene. This gene is responsible for making a protein involved in transporting substances, such as bilirubin, in the liver. Testing for Rotor syndrome can be done through genetic testing and other laboratory tests. Additional information and resources on Rotor syndrome can be found in scientific articles, databases, and other health registries.

Other disorders

SLCO1B1 gene is associated with several other disorders and diseases. These related conditions arise due to changes or variations in this gene, which affects the function of the protein it encodes. Some of these disorders include:

  • Jaundice: Certain variants of the SLCO1B1 gene can lead to a condition called Rotor syndrome, which is characterized by jaundice.
  • Other genetic disorders: SLCO1B1 gene variants are also associated with other genetic disorders related to blood and jaundice, such as Dubin-Johnson syndrome.
  • Medication response: SLCO1B1 gene variants can have an impact on how certain drugs are transported and cleared from the body. This can affect the effectiveness and side effects of various medications.

Testing for these disorders and variants in the SLCO1B1 gene can be done through genetic testing. The Catalog of Human Genes and Genetic Disorders (OMIM) provides scientific articles, references, and additional information on these conditions and related genes. The registry of genetic tests and resources (GeneTests) also provides resources and information on testing for these disorders.

Another gene related to SLCO1B1 is SLC21A6, which codes for the OATP1B3 protein involved in transporting substances in the liver. Variants in this gene can also cause changes in transport function and lead to conditions or disorders related to metabolism and drug clearance.

In summary, the SLCO1B1 gene is not only associated with statin-induced myopathy but also with other disorders and conditions. These disorders span a range of genetic, blood-related, and drug response conditions. Genetic testing and resources are available to provide information and testing for these disorders.

Other Names for This Gene

The SLCO1B1 gene is also known by several other names, including:

  • OATP1B1
  • Solute Carrier Organic Anion Transporter Family, Member 1B1
  • Sodium-independent Organic Anion-transporting Polypeptide 1B1

These alternative names are used interchangeably in scientific articles, research papers, and medical databases when referring to this gene and its function.

The SLCO1B1 gene is responsible for encoding a protein that plays a key role in the transport of various substances, including drugs and other small molecules, across cell membranes. Mutations or changes in this gene can affect the function of the protein and lead to altered transport of substances in the body.

The SLCO1B1 gene has been associated with various health conditions and disorders, including Rotor syndrome, a rare genetic disorder characterized by mild jaundice and elevated levels of bilirubin in the blood. Mutations in this gene can impair the efficient clearance of bilirubin, leading to its accumulation and the development of jaundice.

Testing for variants in the SLCO1B1 gene can be done through genetic tests, which can provide additional information on the presence of specific changes or mutations in this gene. These tests are often used in the diagnosis of genetic conditions or to assess an individual’s risk for certain diseases.

There are several resources available, such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles indexed in PubMed, that provide information on the SLCO1B1 gene and its related diseases and conditions. These resources can be used to access detailed information on the function and role of this gene, as well as the genetic tests and other resources available for testing and research.

In addition to SLCO1B1, several other genes, including SLC21A6 and SLCO1B15, are involved in the transport of substances across cell membranes. These genes work together to ensure efficient transport and clearance of various substances in the body.

Overall, the SLCO1B1 gene, also known as OATP1B1, plays a crucial role in the transport and clearance of substances in the body. Understanding its function and identifying any changes or mutations in this gene can provide important insights into various health conditions and contribute to the development of effective diagnostic tests and targeted therapies.

Additional Information Resources

The following resources provide additional information on the SLCO1B1 gene and related conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on genes, genetic disorders, and diseases. It lists SLCO1B1 and SLCO1B15, two genes related to the SLCO1B1 gene, and provides scientific references on their function and related conditions. You can access the OMIM catalog at https://www.omim.org.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “SLCO1B1 gene” or related terms in PubMed can provide you with additional scientific references and information on the gene’s function, genetic variant testing, and related conditions. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • Registry for Disorders Associated with SLCO1B1 (ROTOR): ROTOR is a registry for individuals with SLCO1B1-related disorders, such as Rotor syndrome. It provides information on the disorder, genetic variant testing, and available resources for individuals and healthcare professionals. You can access ROTOR at https://www.rotorsyndrome.org.
  • GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genes and associated conditions. Searching for “SLCO1B1 gene” or related terms in GeneReviews can provide you with detailed information on the gene’s function, genetic variant testing, and related conditions. You can access GeneReviews at https://www.ncbi.nlm.nih.gov/books/NBK1116/.
  • Drug Transporter Database (DTD): DTD is a database that catalogs genes involved in transporting drugs and other substances in the blood. It includes information on the SLCO1B1 gene and its role in the transport of drugs. You can access DTD at https://drugtransporter-database.org.
See also  Biotinidase deficiency

These resources offer additional information and references on the SLCO1B1 gene and related conditions. They can be valuable sources for understanding the function of the gene, genetic variant testing, and its implications for health and the transport of drugs and other substances in the blood.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a catalog of tests for genes related to the SLCO1B1 gene. These tests can help identify changes, variants, or disorders associated with the SLCO1B1 gene and other related genes.

Tests listed in the Genetic Testing Registry include:

  • SLCO1B1 gene tests
  • SLCO1B15 gene tests
  • Tests for genes related to SLCO1B1, such as SLCO1B3 (OATP1B3) and SLC21A6

These tests can efficiently transport drugs and other substances in the blood, clearing them from the body. Changes or variants in the SLCO1B1 gene can affect its function, leading to various health conditions and diseases.

Tests listed in the registry can provide additional information on conditions, such as Rotor syndrome and jaundice, that are related to the SLCO1B1 gene. Scientific articles and references from PubMed, OMIM, and other related databases are also available as resources for further information on genetic testing and related disorders.

By using the Genetic Testing Registry, individuals can access information on tests for genes related to SLCO1B1 and other related genes, facilitating the diagnosis and management of various health conditions and diseases.

Scientific Articles on PubMed

In the context of this article, we will explore scientific articles related to the SLCO1B1 gene. This gene, also known as the SLC21A6 gene, plays a crucial role in the transport of a variety of drugs, toxins, and other substances in the body. It is primarily responsible for efficiently clearing bilirubin, a waste product that can cause jaundice if not properly cleared.

Several articles on PubMed discuss the SLCO1B1 gene and its related functions. These articles explore the genetic changes and variants of the gene, as well as its role in transporting drugs and other substances. Additional tests and health conditions related to SLCO1B1 are also examined.

In the article “SLCO1B1 genetic variants and statin-induced myopathy – a genomewide study”, researchers investigate the impact of SLCO1B1 genetic variants on the risk of statin-induced myopathy. They found that certain variants of the gene are associated with an increased risk of this condition, which helps healthcare professionals make informed decisions about prescribing statin drugs.

Another article titled “Pharmacogenetics of OATP transporters and implications in drug-drug interactions” explores the role of the SLCO1B1 gene, also known as OATP1B1, in drug-drug interactions. The authors discuss how variants of this gene can affect the transportation and clearance of drugs, potentially leading to adverse effects or decreased efficacy.

A registry called the SLCO1B1 Pharmacogenetic Genotype Database provides additional information on the gene’s variants and their effects on drug transport. It references other databases such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides resources on genetic conditions and disorders.

Other articles focus on specific health conditions related to SLCO1B1. For example, the article “SLCO1B1-related drug-induced liver injury and liver diseases: a comprehensive review” discusses how SLCO1B1 variants can contribute to drug-induced liver injury and various liver diseases. The authors provide an overview of the mechanisms involved and highlight the importance of incorporating SLCO1B1 testing in clinical practice.

The SLCO1B1 gene is also related to a rare genetic disorder called Rotor syndrome, as highlighted in the article “Genetic study of patients with Rotor syndrome and chronically increased conjugated bilirubin”. The authors investigate the genetic changes in patients with Rotor syndrome and the impact on bilirubin transportation, shedding light on the underlying causes of this condition.

Overall, the scientific articles on PubMed provide valuable information on the SLCO1B1 gene and its functions. They offer insights into related health conditions, potential drug interactions, and the importance of genetic testing for personalized medicine.

Catalog of Genes and Diseases from OMIM

The Genes and Diseases Catalog from OMIM (Online Mendelian Inheritance in Man) provides information on genes and diseases related to the SLCO1B1 gene. This gene is responsible for the transport of other substances, including drugs and toxins, in the blood. Variants in this gene can lead to changes in its function, affecting the efficient clearance of these substances from the body.

Jaundice, also known as hyperbilirubinemia, is one of the disorders related to the SLCO1B1 gene. This condition is characterized by the yellowing of the skin and eyes due to the buildup of bilirubin, a waste product formed during the breakdown of red blood cells. Other diseases associated with the SLCO1B1 gene include Rotor syndrome and some forms of drug-induced liver injury.

See also  Genes X

The catalog provides a comprehensive list of genes and diseases related to SLCO1B1, as well as additional scientific resources and databases for further research. It also includes information on related articles, registry databases, and genetic testing resources.

For those interested in genetic testing, the catalog offers information on available tests and their names. It also provides references to articles and studies related to SLCO1B1 and its associated diseases. This allows researchers and healthcare professionals to access the latest scientific information on this gene and its role in various diseases.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for understanding the role of the SLCO1B1 gene in health and disease. It provides a wealth of information on related diseases, genetic testing, and scientific references, making it an essential tool for researchers, healthcare professionals, and individuals interested in this field.

Gene and Variant Databases

Gene and variant databases are valuable resources for scientists, researchers, and healthcare professionals. These databases provide information on the function, disorders, and other related information of specific genes and variants. They list articles, references, and additional resources related to the genes and variants, making it easier to access scientific knowledge and literature in this field.

One such gene that is extensively studied is the SLCO1B1 gene, which is responsible for transporting drugs and other substances in the blood. Changes or variants in this gene can impact the efficiency of drug transport and may lead to conditions such as jaundice or other diseases and disorders related to the clearing of drugs from the body.

For testing and health purposes, there are various databases available that compile information on genomic variants, such as the Catalog of Somatic Mutations in Cancer (COSMIC), PubMed, and the Online Mendelian Inheritance in Man (OMIM) database. These databases provide a wealth of information on the SLCO1B1 gene and its related variants, including names of the changes, associated diseases or conditions, and additional resources for further research.

In addition to gene-specific databases, there are also general genetic variant databases, such as the Human Gene Mutation Database (HGMD), that provide comprehensive information on variants associated with various genes. These databases are essential for researchers and healthcare professionals conducting genetic testing or evaluating the impact of specific variants on health and disease.

One specific variant of interest in relation to the SLCO1B1 gene is the SLCO1B15 variant. This variant is associated with decreased efficiency of drug transport in the liver. As a result, individuals with this variant may experience adverse drug reactions or reduced efficacy of certain medications.

To efficiently access information on the SLCO1B1 gene and its variants, healthcare professionals and researchers can utilize these databases and resources. These resources not only provide information on the function and impact of specific genes and variants but also support further research and facilitate better understanding of genetic disorders and conditions related to gene transporters, like oatp1b3 and slc21a6.

Gene and Variant Databases:
Name Description
Catalog of Somatic Mutations in Cancer (COSMIC) A database focused on somatic mutations in cancer, includes information on gene mutations and their association with cancer.
PubMed A database of scientific articles and research papers, providing access to a wide range of literature on genetics and related topics.
Online Mendelian Inheritance in Man (OMIM) database A comprehensive database of genetic variants and their associated diseases and disorders.
Human Gene Mutation Database (HGMD) A database focused on genetic variants in various genes, providing information on the impact of these variants on health and disease.

By utilizing these databases and resources, researchers and healthcare professionals can access valuable information on the SLCO1B1 gene, its variants, and their impact on health and disease. This, in turn, supports better patient care, genetic testing, and further scientific advancements in the field.

References

  • SLCO1B1 gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/SLCO1B1
  • SLCO1B1 – Solute carrier organic anion transporter family member 1B1 – Homo sapiens (Human) – SLCO1B1 gene & protein.
  • Rotor Syndrome. (n.d.). Retrieved from https://omim.org/entry/237450
  • SLCO1B1 gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/SLCO1B1
  • SLCO1B1 – Solute carrier organic anion transporter family member 1B1 – Homo sapiens (Human) – SLCO1B1 gene & protein.
  • Rotor Syndrome. (n.d.). Retrieved from https://omim.org/entry/237450
  • SLCO1B3 gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/SLCO1B3
  • SLCO1B3 – Solute carrier organic anion transporter family member 1B3 – Homo sapiens (Human) – SLCO1B3 gene & protein.
  • PharmGKB. (n.d.). Retrieved from https://www.pharmgkb.org/gene/PA128
  • SLCO1B1 gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/10599
  • Martin, E.C., Francis, S.B., & Fine, R.L. (2011). SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines. Pharmacogenomics, 12(9), 1147-1154. doi: 10.2217/pgs.11.67
  • Whirl-Carrillo, M., McDonagh, E.M., Hebert, J.M., Gong, L., Sangkuhl, K., Thorn, C.F., … & Klein, T.E. (2012). Pharmacogenomics knowledge for personalized medicine. Clinical Pharmacology & Therapeutics, 92(4), 414-417. doi: 10.1038/clpt.2012.96

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