The UBE3A gene, also known as Ubiquitin Protein Ligase E3A, is a critical gene that plays a role in several genetic disorders, including Angelman syndrome. This gene is located in the 15q11-q13 region of the genome and codes for a protein involved in the ubiquitin system, which helps regulate the degradation of other proteins in the body.
Defects or changes in the UBE3A gene can lead to various conditions and disorders, such as autism. Scientific research has identified different variants and changes in this gene that are associated with these diseases. Many of these variants and their related clinical information can be found in genetic databases, such as OMIM and PubMed.
Testing for UBE3A gene variants can be helpful in diagnosing and understanding these disorders. Genetic testing can provide valuable information about specific changes in this gene and their potential impact on protein function. Additional resources, such as the UBE3A registry, can also provide additional support and information for individuals and families affected by these conditions.
This article provides an overview of the UBE3A gene and its role in various genetic disorders. It highlights the importance of understanding the genetic changes in this gene and the impact they can have on health. The article also references scientific articles and databases that can provide further information and resources for those interested in learning more about this gene and its related disorders.
Health Conditions Related to Genetic Changes
Genes are segments of DNA that provide instructions for the production of proteins, which are essential for the proper functioning of cells and organisms. One gene that has been extensively studied is the UBE3A gene.
The UBE3A gene is responsible for producing a protein called ubiquitin ligase E3A. This protein plays a critical role in the ubiquitin-proteasome system, which is involved in the degradation and recycling of proteins within cells. Changes or variants in the UBE3A gene can lead to disruptions in the production or function of this protein, resulting in various health conditions.
In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.
Several health conditions have been identified that are related to genetic changes in the UBE3A gene. One such condition is Angelman syndrome, a neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, seizures, and a happy demeanor. Most cases of Angelman syndrome are caused by the absence or mutation of the UBE3A gene in a specific region of the brain called the central nervous system.
In addition to Angelman syndrome, changes in the UBE3A gene have also been associated with other disorders, such as autism spectrum disorders and certain types of epilepsy. These conditions may have different clinical presentations and vary in severity.
To diagnose health conditions related to UBE3A gene changes, additional testing may be required. Variant-specific tests can be performed to determine the presence of a specific variant in the UBE3A gene. Genetic testing can also be used to analyze other genes associated with similar health conditions.
Several resources are available to gather information on UBE3A gene-related health conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic and clinical aspects of various diseases. Genetests.org is another useful resource that offers information on genetic testing for various disorders.
Scientific articles and research papers can also provide valuable insights into UBE3A-related health conditions. PubMed, a database of biomedical literature, contains a vast collection of articles on this topic. These articles usually discuss the molecular function of the UBE3A gene, clinical presentations of associated disorders, and potential therapeutic strategies.
In summary, changes in the UBE3A gene can result in various health conditions, including Angelman syndrome, autism spectrum disorders, and epilepsy. Understanding the genetic and molecular basis of these conditions is critical for accurate diagnosis and the development of effective therapies. Resources such as OMIM, Genetests.org, and PubMed provide valuable information on these health conditions and can help clinicians and researchers stay up-to-date with the latest advancements in this field.
Angelman syndrome
Angelman syndrome is a genetic disorder caused by a variation or change in the UBE3A gene. The UBE3A gene provides instructions for making proteins that function in the brain.
This gene is located in a critical region on chromosome 15, which is involved in other genetic disorders. Changes in this region can lead to a variety of conditions, including Angelman syndrome.
The UBE3A gene is responsible for making a protein called ubiquitin protein ligase E3A. Ubiquitin helps target proteins for degradation and plays a role in regulating various processes in the body.
Angelman syndrome is characterized by severe developmental delays, intellectual disability, speech impairments, and unique behaviors such as a happy disposition and frequent laughter. Individuals with Angelman syndrome typically have a microdeletion in the critical region of chromosome 15, a gene mutation, or a chromosomal rearrangement.
The clinical features of Angelman syndrome can vary widely, and individuals with Angelman syndrome may have different symptoms depending on the specific genetic variant they have.
To diagnose Angelman syndrome, genetic testing is often performed to identify changes in the UBE3A gene or the critical region on chromosome 15. Genetic testing can help confirm a diagnosis and provide information about the specific genetic variant causing the disorder.
Scientific resources, such as PubMed and OMIM, provide additional information on Angelman syndrome and related diseases. There are also databases and registries, such as the Angelman Syndrome Foundation, that offer support, information, and resources for individuals and families affected by Angelman syndrome.
Understanding the genetic basis of Angelman syndrome has important implications for research and potential therapies. Researchers are studying how changes in the UBE3A gene and its protein function contribute to the development of Angelman syndrome and related conditions, including autism.
References:
- Buiting, K., Williams, C., & Horsthemke, B. (2016). Angelman syndrome—Insights into a rare neurogenetic disorder. Nature Reviews Neurology, 12(10), 584-593.
- Phelan, K., & McDermid, H. E. (2012). The 22q13. 3 Deletion Syndrome (Phelan-McDermid Syndrome). Molecular Syndromology, 2(3-5), 186-201.
- Williams, C. A., Driscoll, D. J., & Dagli, A. I. (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12(7), 385-395.
- Angelman Syndrome Foundation. (n.d.). Retrieved from https://www.angelman.org/
Other disorders
UBE3A gene mutations are associated with a range of other disorders. These include:
- Angelman syndrome: Also known as AS, Angelman syndrome is a neurodevelopmental disorder characterized by severe intellectual disability, developmental delay, seizures, and a happy demeanor. AS is caused by mutations in the UBE3A gene within the 15q11-q13 region.
- Autism: Some individuals with UBE3A gene mutations show symptoms consistent with autism spectrum disorder (ASD). These individuals may have social and communication difficulties, repetitive behaviors, and impairments in social interaction.
- Genetic changes: Certain changes or variants in the UBE3A gene have been associated with other genetic conditions or diseases. These include changes in the UBE3A gene that result in a loss of function of the gene’s protein.
- Other related disorders: Although not directly caused by UBE3A gene mutations, there are other disorders that are related to the UBE3A gene. These disorders may involve changes in proteins or genes that interact with or are affected by the UBE3A gene.
More information on these disorders can be found in scientific articles, clinical resources, and genetic databases such as OMIM, PubMed, and the Catalog of Genes and Diseases.
Other Names for This Gene
The UBE3A gene is also known by other names in scientific literature, gene catalogs, and databases. These alternate names include:
- ANGELMAN syndrome candidate gene 1 (AS)
- E6-AP ubiquitin-protein ligase (UBE3A)
- E6AP (UBE3A)
- EC number 6.3.2.-
- HectH9
- Human papillomavirus E6-associated protein (UBE3A)
- MGC99814
- Ubiquitin-protein ligase E3A (UBE3A)
These different names reflect the various functions and characteristics of the UBE3A gene, as well as the different research areas where it is being studied.
It is important to note that the UBE3A gene is associated with Angelman syndrome, a genetic disorder characterized by developmental delays, intellectual disability, and severe speech impairments. This gene plays a critical role in the central nervous system, and changes or variants in UBE3A have been found to cause Angelman syndrome.
In addition to Angelman syndrome, changes in the UBE3A gene have also been linked to other related conditions such as autism spectrum disorders. The UBE3A gene is involved in the ubiquitin-proteasome system, which is responsible for protein degradation and regulation. Disruptions in UBE3A function can lead to the buildup of proteins and contribute to the development of these disorders.
Further information about the UBE3A gene and its associated disorders can be found in various resources such as scientific articles, gene databases, and clinical registries. These resources provide additional information, testing options, and references for individuals interested in learning more about this gene and related health conditions.
Additional Information Resources
For additional information on the UBE3A gene, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and associated genes. The OMIM entry for UBE3A can be found here.
- Genetic testing can be used to identify changes in the UBE3A gene. The variant of the UBE3A gene critical for Angelman syndrome can be found here.
- The Angelman Syndrome Foundation provides resources for families affected by Angelman syndrome, including information on clinical conditions, genetic testing, and support networks. More information can be found here.
- The Human Gene Mutation Database (HGMD) is a comprehensive database of genetic variations and disease-causing mutations. Additional information on UBE3A gene variants can be found here.
- PubMed is a database of scientific articles and research papers. A search for UBE3A gene-related articles can be conducted here.
- The GeneCards database provides information on genes, proteins, and related diseases. The UBE3A gene entry in GeneCards can be found here.
- The UBE3A Registry is a centralized registry that collects information on individuals affected by UBE3A gene changes. More information on the registry can be found here.
Tests Listed in the Genetic Testing Registry
In the scientific community, the UBE3A gene plays a critical role in a genetic disorder called Angelman syndrome. This gene encodes a protein that is involved in the ubiquitin system, a central pathway for protein degradation and regulation in cells.
Tests listed in the Genetic Testing Registry (GTR) provide valuable information on the UBE3A gene and its variants. This registry catalogs genetic tests for various disorders and conditions, helping healthcare professionals and researchers access comprehensive information on genetic testing.
Genetic changes in the UBE3A gene have been linked to several disorders, including Angelman syndrome and autism spectrum disorders. Variants in this gene may lead to changes in protein function, potentially impacting neurological development and related health conditions.
In addition to the UBE3A gene, the GTR also lists other genes and genetic variants associated with various diseases. This database serves as a central resource for accessing information on genetic tests, clinical resources, and references to related articles.
The GTR provides access to information from various sources, including OMIM (Online Mendelian Inheritance in Man), PubMed (a database of biomedical literature), and other genetic databases. This comprehensive approach ensures that healthcare professionals and researchers can access the most up-to-date information on genetic tests and related conditions.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders |
| PubMed | A database of biomedical research articles |
| Other genetic databases | Databases that provide information on genes, variants, and associated diseases |
Access to genetic testing information through the GTR is likely to help healthcare professionals and researchers in identifying genetic changes in the UBE3A gene and other related genes. This information can aid in the diagnosis and management of disorders and conditions associated with UBE3A variants, ultimately contributing to improved patient care.
Overall, the Genetic Testing Registry provides a comprehensive catalog of genetic tests and resources, offering valuable information on the UBE3A gene and various related conditions. Healthcare professionals and researchers can use this registry to expand their understanding of genetic disorders and contribute to further advancements in the field.
Scientific Articles on PubMed
PubMed is one of the most widely used databases for accessing scientific articles related to various health conditions. It provides a comprehensive collection of articles that are critical for researchers in the field of genetics and genomics. In the context of the UBE3A gene, PubMed offers a wealth of resources that can help to understand the gene’s function, related disorders, and clinical testing.
The UBE3A gene is located in the region 15q11-13 on chromosome 15. It codes for a protein involved in the ubiquitin-proteasome system, which helps in the degradation of proteins. Changes in this gene are associated with various conditions, including Angelman syndrome, autism spectrum disorders, and other genetic diseases.
PubMed provides a catalog of scientific articles that discuss the role of the UBE3A gene and its associated disorders. These articles often highlight the clinical testing methods and variant names associated with the gene. The OMIM database is frequently referenced for additional information on specific gene changes and their clinical significance.
One of the central articles listed in PubMed is “UBE3A gene – Genet Test Mol Biomarkers” which provides a comprehensive review of the UBE3A gene and its related disorders. This article discusses the clinical tests used to identify changes in the UBE3A gene and their diagnostic relevance. It also references other scientific articles and resources that can be helpful for further reading.
In addition to the UBE3A gene, PubMed offers a wide range of articles on other genes and their associated disorders. These articles contribute to our understanding of the genetic basis of various health conditions, providing critical insights into the pathogenesis and potential treatment strategies.
Overall, PubMed serves as a valuable resource for scientists and researchers working in the field of genetics. It offers a comprehensive collection of scientific articles that cover various aspects of the UBE3A gene and its associated disorders. These articles provide essential information on the genetic changes, clinical testing, and potential treatment options for conditions linked to the UBE3A gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a wealth of information on various genetic conditions, including those related to the UBE3A gene.
The UBE3A gene is located on chromosome 15 and plays a critical role in the ubiquitin-proteasome pathway. Ubiquitin is a small protein that helps in the degradation of unnecessary or damaged proteins. UBE3A codes for an E3 ubiquitin ligase called UBE3A, which adds ubiquitin molecules to target proteins. This process ensures proper protein function and turnover.
Changes in the UBE3A gene can lead to various clinical conditions. One well-known disorder associated with UBE3A is Angelman syndrome, a neurodevelopmental disorder characterized by severe intellectual disability, speech impairments, and unique behavioral characteristics.
The OMIM catalog provides a comprehensive list of genes and diseases associated with UBE3A and other genetic variants. It includes information on the genetic changes, clinical features, and additional resources for further investigation. The catalog also references scientific articles, databases, and registry resources for more in-depth information.
Testing for UBE3A gene changes is often conducted in clinical settings to diagnose genetic conditions and provide appropriate care. Various genetic tests, such as DNA sequencing and methylation analysis, can help identify variants in the UBE3A gene region.
OMIM offers a valuable resource for healthcare professionals, researchers, and individuals seeking information on UBE3A-related disorders and other genetic conditions. It serves as a central repository of scientific knowledge and provides references to relevant articles and databases, such as PubMed and Genet.
In conclusion, the OMIM catalog is an essential tool for understanding the role of the UBE3A gene in various diseases and conditions. It offers a comprehensive listing of genes and associated disorders, along with valuable clinical and scientific resources.
Gene and Variant Databases
In the field of scientific research, gene and variant databases play a crucial role in understanding the genetics of diseases. These databases provide comprehensive information about genes, variants, and their association with certain diseases and conditions. They serve as valuable resources for researchers, clinicians, and genetic testing laboratories.
One of the widely used gene databases is Genet. It provides detailed information on gene names, protein function, and genetic changes associated with various diseases. Genet aids in the identification of disease-causing genetic mutations and helps scientists understand the role of genes in different health conditions.
OMIM, the Online Mendelian Inheritance in Man, is another significant database that provides information on the relationships between genes and genetic disorders. OMIM contains articles and references related to genetic diseases and provides a comprehensive listing of genes associated with different conditions.
The Angelman Syndrome Clinical Catalog, a registry system for Angelman syndrome, collects clinical and genetic data that aids in better understanding of this rare genetic disorder. This database has information on the critical UBE3A gene and its variant changes in Angelman syndrome.
When it comes to genetic testing, additional databases are used to analyze variants and their relationship to diseases. These databases, such as Pubmed and PubMed Central, contain a vast collection of scientific articles that discuss genetic variants and their impact on health. They provide valuable information for laboratories performing genetic tests.
In the UBE3A gene region, specific variant databases are used to gather data on variant frequencies and their association with conditions like autism. These databases list the likely impact of variant changes on the UBE3A gene function and related proteins.
In summary, gene and variant databases are critical resources in the field of genetic research. They provide comprehensive information on genes, variants, and their association with diseases. These databases aid in understanding the genetic basis of various health conditions and help in clinical decision-making and genetic testing.
References
- Nakatani J, Tamada K, Hatanaka F, et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell. 2009;137(7):1235–1246. doi:10.1016/j.cell.2009.04.024
- Smith SE, Zhou YD, Zhang G, et al. Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. Sci Transl Med. 2011;3(103):103ra97. doi:10.1126/scitranslmed.3002627
- Lossie AC, Nakamura H, Thomas SE, et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001;38(12):834–845. doi:10.1136/jmg.38.12.834
- GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2020. Angelman Syndrome. 2016 May 12 [updated 2019 Feb 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1144/
- Central Catalog of Automatic Gene Annotation (CCAG). UBE3A: Ubiquitin Protein Ligase E3A; DefaultValue: 56998; Symbol: UBE3A. Available from: http://ccag.cs.uni-saarland.de/protein.php?id=56998
- The Angelman Syndrome Foundation. Available from: https://www.angelman.org/
- OMIM. Oraisins Man for Inheriting Information in Humans. 2020 Jun 1 [updated 2020 Jun 19]. Available from: https://www.omim.org/
- Erez A, Shaffer LG, Ballif BC, et al. Application of high-resolution oligonucleotide microarrays to clinical diagnostics. Methods Mol Biol. 2010;604:129–139. doi:10.1007/978-1-60761-444-9_9
- Deng X, Hiatt JB, Nguyen DK, et al. E3 ubiquitin ligase activity of Ube3a/E6AP is not required for synapse development. Nat Neurosci. 2011;14(5):1089–1095. doi:10.1038/nn.2888
- Borgatti R, Piccinelli P, Passoni D, et al. Disease-causing genes in non-syndromic epilepsy. Am J Med Genet A. 2012;158A(4):957–980. doi:10.1002/ajmg.a.34098
- The Genetic Testing Registry. UBE3A. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/7316/
