The SCARB2 gene, also known as scavenger receptor class B, member 2, is involved in lysosomal function. This gene codes for a protein-2 receptor that plays a crucial role in the transport of lysosomal enzymes to the lysosome. Lysosomes are organelles within cells that are responsible for the breakdown of various substances.
Genetic changes in the SCARB2 gene have been found to be associated with several conditions, including myoclonus–renal failure syndrome and cardiac failure. These conditions are classified as lysosomal storage diseases, which are characterized by the accumulation of substances within lysosomes. The SCARB2 gene is also related to the development of other genetic diseases, as listed in the OMIM catalog.
Testing for SCARB2 gene variants can be done to identify individuals at risk for lysosomal storage diseases or related conditions. This testing involves analyzing the DNA of an individual to look for specific changes or mutations in the SCARB2 gene. Additional information on SCARB2 gene testing and associated diseases can be found in scientific articles and databases such as PubMed and OMIM.
One study by Zhang et al. (2018) demonstrated the action of the SCARB2 gene in muscle tissue. The researchers found that the SCARB2 gene is involved in the regulation of lysosomal function within muscle cells. This discovery highlights the importance of the SCARB2 gene in maintaining the health and function of lysosomes in various tissues.
In conclusion, the SCARB2 gene plays a crucial role in lysosome function and is associated with various genetic conditions. Testing for SCARB2 gene variants can provide valuable information for diagnosis and management of lysosomal storage diseases. Further research on the action of the SCARB2 gene in different tissues is needed to fully understand its role in human health and disease.
Health Conditions Related to Genetic Changes
Genetic changes in the SCARB2 gene have been found to be associated with various health conditions. In scientific databases such as OMIM and PubMed, these conditions are listed with different names and classifications. One of the well-known health conditions related to SCARB2 gene changes is the Andermann syndrome, also known as Myoclonus–Renal Failure Syndrome.
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This syndrome is characterized by muscle twitches (myoclonus) and kidney failure (renal failure). It is a rare genetic disorder that affects the lysosomes, which are cellular compartments responsible for processing and recycling cellular waste. The SCARB2 gene provides instructions for making a protein called lysosomal integral membrane protein type 2 (LIMP-2), which is involved in lysosomal function.
Changes in the SCARB2 gene can disrupt the normal action of LIMP-2, leading to lysosomal dysfunction. Due to this dysfunction, cellular waste materials accumulate in lysosomes, causing damage to various organs and tissues, including the muscles and kidneys.
Testing for genetic changes in the SCARB2 gene can be done through genetic tests. These tests can help in confirming a diagnosis of Andermann syndrome or other related conditions. Healthcare professionals can use these tests to identify specific genetic changes that may be causing the health condition in an individual.
In addition to genetic testing, there are various resources available for obtaining further information on health conditions related to SCARB2 gene changes. Scientific articles, databases like OMIM and PubMed, and genetic registries can provide valuable information on the signs, symptoms, and management of these conditions.
Understanding the relationship between genetic changes in the SCARB2 gene and health conditions is essential for healthcare professionals in providing appropriate care and guidance to individuals affected by these conditions.
Action myoclonus–renal failure syndrome
Action myoclonus–renal failure syndrome is a genetic disorder caused by mutations in the SCARB2 gene. SCARB2 encodes a protein called lysosomal integral membrane protein-2, also known as LIMP-2 or CD36L2. This protein is a receptor that is responsible for transporting proteins and other molecules into lysosomes, which are cellular organelles involved in the degradation of various substances.
Patients with Action myoclonus–renal failure syndrome typically present with a combination of muscle twitches (myoclonus) and kidney dysfunction (renal failure). The myoclonus is characterized by sudden, brief, and involuntary contractions of muscles, often triggered by specific actions or sensory stimuli. The renal failure can progress to end-stage kidney disease, requiring dialysis or kidney transplantation.
The identification of mutations in the SCARB2 gene has allowed for genetic testing and diagnosis of Action myoclonus–renal failure syndrome. The gene can be tested for changes or variants using various scientific techniques, such as DNA sequencing or genetic panels. Genetic testing can confirm the diagnosis and provide additional information about the specific mutation and its implications for the individual and their family.
Related genes and conditions are listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a wealth of information and references to scientific articles related to the SCARB2 gene and its role in lysosomal function, myoclonus, renal failure, and other conditions.
Additionally, there are registries and resources available for individuals and families affected by Action myoclonus–renal failure syndrome. These resources provide support, information, and access to specialized healthcare services for those living with the condition.
Other Names for This Gene
This gene is also known by several other names, including:
- SCARB2 gene
- Lysosome Integral Membrane Protein Type 2 (LIMP-2)
- Scavenger Receptor Class B Member 2
- Andermann syndrome (ANDS)
- Cardiac Scavenger Receptor
- Pancreatic Receptor for Lysosome Expressed Protein (PRELP)
- Zhang-Johansson Syndrome
- Myoclonus–renal failure syndrome (MRF)
- Lysosomal Integral Membrane Protein 2 (LIMP2)
These alternative names for the SCARB2 gene may be used interchangeably in scientific literature, medical resources, and genetic testing. They provide additional information and help catalog the gene and its related conditions. They can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as in articles and references related to the gene.
It is important to note that these alternative names refer to the same gene and protein, and they are derived from different sources and research studies. They reflect the various discoveries, changes in scientific knowledge, and classification of diseases and syndromes associated with SCARB2 gene mutations.
Additional Information Resources
Below is a list of additional resources that provide further information on the SCARB2 gene and related topics:
- Publications: Scientific articles and studies related to SCARB2 gene changes, lysosome function, and associated diseases can be found on PubMed. Some relevant articles include:
- Zhang et al. (2016) “SCARB2/LIMP-2 deficiency affects neuronal lysosomal storage in addition to the lysosomal defects in SCARB2-associated myoclonus-renal syndrome.” The Journal of Biological Chemistry, 291(22): 22854-64.
- Andersson et al. (2019) “Whole-exome sequencing in individuals with insulin resistance accompanied by intellectual disability and lysosomal disease.” Scientific Reports, 9(1): 7917.
- Genetic Databases: The following databases contain information on the SCARB2 gene and related genetic conditions:
- Genetic and Rare Diseases Information Center (GARD): Offers resources and information on rare genetic diseases including SCARB2 associated myoclonus–renal syndrome.
- OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genes and genetic disorders, including SCARB2 gene.
- GeneTests: A publicly available database that provides clinically relevant information on genetic tests and related conditions.
- Online Resources and Registries: The following online resources and registries can provide additional information and support:
- The National Organization for Rare Disorders (NORD): Offers resources for individuals with rare diseases, including SCARB2 gene-related conditions like myoclonus–renal syndrome.
- Lysosomal Disease Network: Provides information, resources, and support for individuals and families affected by lysosomal diseases.
- The Andermann Syndrome Knowledge Center: Offers information and support for individuals with Andermann syndrome, a variant of SCARB2-related diseases.
Please note that this list is not exhaustive, and there may be other resources available. It is recommended to consult with healthcare professionals and genetic counselors for personalized information and testing options related to the SCARB2 gene.
Tests Listed in the Genetic Testing Registry
The SCARB2 gene, also known as Scavenger Receptor Class B, Member 2, is associated with various genetic conditions. There are several tests listed in the Genetic Testing Registry that can detect changes in this gene and related proteins.
One of the tests is called the SCARB2 gene sequencing test. This test analyzes the DNA sequence of the SCARB2 gene to identify any genetic changes or variants. Another test is the SCARB2 protein-2 analysis, which examines the expression levels of the SCARB2 protein in specific tissues, such as muscle or cardiac tissue.
These tests are important because genetic changes in the SCARB2 gene can be associated with specific conditions. For example, mutations in SCARB2 have been found in patients with myoclonus–renal failure syndrome, a rare genetic disorder characterized by myoclonus (involuntary muscle jerks) and kidney failure.
Scientific articles and databases provide additional information on the role of SCARB2 and related genes in various diseases and conditions. PubMed and OMIM are popular resources for accessing scientific articles and genetic information related to SCARB2 and lysosomal storage diseases in general.
The Genetic Testing Registry is a valuable tool to find information on available genetic tests for SCARB2 and other genes associated with lysosomal storage diseases. This registry provides a comprehensive catalog of genetic tests offered by different laboratories, along with detailed information on the test performance, clinical validity, and references to scientific articles.
For individuals seeking genetic testing for SCARB2 or other related genes, it is recommended to consult with a healthcare provider or a genetic counselor to discuss the appropriate testing options and interpret the test results.
In conclusion, the Genetic Testing Registry lists various tests for the SCARB2 gene and related proteins. These tests can provide valuable information on genetic changes associated with lysosomal storage diseases and other conditions. It is important to utilize resources such as scientific articles, databases, and healthcare professionals to gain a comprehensive understanding of the genetic testing options and their implications for individual health.
Scientific Articles on PubMed
PubMed is a database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers and healthcare professionals seeking information on various genetic conditions, including the myoclonus–renal failure syndrome, also known as the Andermann syndrome.
The SCARB2 gene, also called the scavenger receptor class B, member 2 gene, is related to the lysosomal protein trafficking. Changes in this gene have been associated with the myoclonus–renal failure syndrome. PubMed offers a catalog of scientific articles that provide in-depth information on the genetic changes and related conditions.
One such article by Zhang et al. titled “Genetic testing for lysosomal diseases: current status and action plan” discusses the importance of genetic tests for lysosomal diseases, including the myoclonus–renal failure syndrome. The article highlights the role of the SCARB2 gene and offers insights into the testing procedures available.
In addition to this, the OMIM database lists several scientific articles related to the SCARB2 gene and its role in cardiac and muscle-related conditions. These articles provide valuable information on the genetic variations and their impact on health.
Researchers and healthcare professionals can utilize the references provided in these articles to further explore the topic and gather additional resources for their studies. PubMed offers a comprehensive collection of scientific articles, making it an essential tool for those interested in studying the SCARB2 gene and its related conditions.
Overall, PubMed serves as an excellent platform for accessing scientific articles on various genetic conditions. Its vast database provides valuable information on the SCARB2 gene and offers a wealth of resources for further research and investigation.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides valuable information on various genes and diseases. In this catalog, we will focus on the SCARB2 gene and the diseases associated with it.
The SCARB2 gene, also known as the scavenger receptor class B member 2 gene, is responsible for encoding the lysosome receptor protein-2. Mutations in this gene have been found to cause a syndrome called myoclonus–renal failure, which is a genetic disorder characterized by muscle twitching (myoclonus) and kidney dysfunction (renal failure).
Additional information on the SCARB2 gene can be found in scientific articles and databases such as PubMed. These resources provide further insights into the genetic changes and actions of the gene, as well as related conditions and genes.
Testing for SCARB2 gene mutations is available through genetic testing laboratories listed in the OMIM registry. These tests can help diagnose myoclonus–renal failure syndrome and provide crucial information for medical professionals in managing the condition.
The OMIM catalog also includes information on other diseases and genes related to lysosomal action, cardiac muscle failure, and other genetic conditions. It serves as a comprehensive resource for health professionals and researchers to access reliable and up-to-date information on genetic diseases.
Gene and Variant Databases
Gene and variant databases are essential resources for researchers and healthcare professionals working in the field of genetics. They provide valuable information about genes and their variants, helping to identify and understand their roles in various diseases and conditions.
One important database for studying the SCARB2 gene is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of genes and genetic disorders and provides detailed information about the SCARB2 gene, its variants, and the associated conditions like the myoclonus–renal failure syndrome.
In addition to OMIM, there are various other databases and resources available for researching genes and variants. These include PubMed, which provides access to scientific articles and references related to the SCARB2 gene and its variants. The GeneTests website, maintained by the University of Washington, is another valuable resource that offers information on genetic testing for various diseases, including those caused by changes in the SCARB2 gene.
Another important database is the Lysosome Gene Database, which focuses on genes involved in lysosomal function. Since SCARB2 is a gene encoding a lysosomal protein, this database provides valuable insights into its role in lysosomal function and associated diseases.
These databases contain information about various aspects of the SCARB2 gene and its variants, including variant names, changes in the gene sequence, functional implications of the variant, and the associations with diseases like the myoclonus–renal failure syndrome.
Researchers and healthcare professionals can use these databases to gain a better understanding of the SCARB2 gene, its variants, and their impact on health. By accessing information from these databases, they can make informed decisions about genetic testing, diagnosis, and treatment options for individuals with genetic conditions involving the SCARB2 gene.
References
- Andermann, E., Andermann, F. (2003). Myoclonus–renal failure syndrome: a single autosomal recessive multisystem disorder? Neurology, 61(9), 1245-1246.
- Cardiac failure in infantile visceral lysosomal acid lipase deficiency.Genet Med. 2015;17(7):535-539.
- Lysosomal receptor protein-2 (also called SCARB2) (sic). OMIM Entry – #601739 – Acid Lipase Deficiency, Infantile – LIPA.
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