The GTF2I gene is one of the genes that has been found to be related to Williams-Beuren syndrome (WBS). Williams-Beuren syndrome is a genetic condition that causes various developmental abnormalities and cognitive impairments in affected individuals. It is caused by a deletion of genetic material on chromosome 7q1123, which includes the GTF2I gene.

The GTF2I gene encodes a protein that is involved in transcription, the process by which genetic information is converted into functional proteins. The protein encoded by the GTF2I gene plays a role in the regulation of gene expression, and it is involved in many cellular processes, such as DNA repair and cell cycle control.

Research has shown that changes in the GTF2I gene can lead to alterations in the phosphorylation of target proteins, which can have a significant impact on cellular signaling pathways and gene expression. This can result in dysregulation of various cellular processes, and it may contribute to the development of the characteristic symptoms observed in individuals with Williams-Beuren syndrome.

Testing for genetic changes in the GTF2I gene can be important for diagnosing Williams-Beuren syndrome and providing valuable information for individuals and their families. Genetic testing can help confirm the diagnosis, identify other related genetic conditions, provide information about the recurrence risk for future pregnancies, and guide management and treatment options for affected individuals.

There are several resources available for individuals and families who are seeking more information about the GTF2I gene and its related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions, including the GTF2I gene and related abnormalities. PubMed, a database of scientific articles, is another valuable resource for finding scientific articles and references on the GTF2I gene and related topics. The Williams Syndrome Association is an organization that provides support and resources for people with Williams-Beuren syndrome and their families, and it also maintains a registry of affected individuals.

Health Conditions Related to Genetic Changes

The GTF2I gene, located on chromosome 7q11.23, plays a crucial role in the regulation of transcription and phosphorylation of target genes involved in various cellular processes. Genetic changes in this gene have been linked to several health conditions, including Williams-Beuren syndrome.

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Williams-Beuren syndrome is a genetic disorder characterized by cardiovascular abnormalities, intellectual disabilities, distinctive facial features, and certain behavioral traits. It is caused by a deletion of genetic material on chromosome 7, including the GTF2I gene. This deletion leads to the loss of one copy of GTF2I among other genes, resulting in the characteristic signs and symptoms of Williams-Beuren syndrome.

Studies have shown that individuals with a duplication of the GTF2I gene may be at an increased risk of certain health conditions. The duplicated genes may disrupt normal cellular processes and lead to abnormal protein interactions or reactions, contributing to the development of these conditions.

Genetic testing can help identify changes in the GTF2I gene and provide valuable information for the diagnosis and management of associated health conditions. Various resources, such as scientific articles, databases, and registries, catalog information on genetic changes and their related diseases. These resources can be searched for additional references and names of conditions linked to GTF2I gene changes.

It is important to note that genetic changes in the GTF2I gene may not always cause health conditions. Some individuals may carry a variant or abnormality in this gene without experiencing any symptoms or complications. Additional testing and clinical assessments are necessary to understand the potential impact of these changes on an individual’s health.

Research on the GTF2I gene and other related genes is ongoing, and new discoveries are continually expanding our understanding of their roles in health and disease. This information can help guide future studies and developments in diagnostics, treatments, and potential therapies targeting conditions associated with genetic changes in the GTF2I gene.

In conclusion, the GTF2I gene has been implicated in various health conditions, including Williams-Beuren syndrome. Genetic changes in this gene can lead to abnormalities in cellular processes, resulting in the development of specific diseases. Genetic testing and the utilization of resources such as databases and scientific articles provide valuable information for the diagnosis, management, and further research of conditions related to changes in the GTF2I gene.

7q1123 duplication syndrome

The 7q1123 duplication syndrome is a genetic condition characterized by the duplication of a region of DNA on chromosome 7. The syndrome is also known as the “Williams-Beuren syndrome duplication” or “duplication of the GTF2I gene.”

People with the 7q1123 duplication syndrome have an extra copy of the GTF2I gene, which is located in the duplicated region on chromosome 7. This gene encodes a protein that is involved in transcriptional regulation, the process by which genes are turned on and off in cells. The extra copies of the GTF2I gene can disrupt normal gene regulation and lead to a variety of health problems.

Some of the symptoms and behaviors associated with the 7q1123 duplication syndrome include intellectual disability, developmental delay, distinctive facial features, cardiovascular abnormalities, and a characteristic “elfin-like” appearance. Individuals with this syndrome may also exhibit certain personality traits, such as being overly friendly and having strong social skills.

Diagnosis of the 7q1123 duplication syndrome can be confirmed through genetic testing, which can detect the duplication of the GTF2I gene. There are several databases and resources available for genetic testing and the cataloging of genetic abnormalities and diseases. Some of these resources include OMIM, PubMed, and the Genetic Testing Registry.

Additional information about the 7q1123 duplication syndrome can be found in scientific articles, medical journals, and other references. These resources often provide detailed information about the genetics, clinical features, and management of the syndrome.

It is important for individuals with the 7q1123 duplication syndrome and their families to seek medical care from healthcare professionals who are familiar with the syndrome. These professionals can provide information about available treatments and support services.

In conclusion, the 7q1123 duplication syndrome is a genetic condition characterized by the duplication of a region on chromosome 7, including the GTF2I gene. This duplication can lead to a variety of health problems, including intellectual disability and distinctive facial features. Genetic testing and resources such as OMIM and PubMed provide additional information about this syndrome.

Williams syndrome

Williams syndrome is a rare genetic disorder caused by a deletion of genetic material on chromosome 7, specifically at the 7q11.23 region. This region contains the GTF2I gene, among others. The syndrome is characterized by various medical and developmental abnormalities.

Syndrome characteristics:

• Distinct facial features
• Cardiovascular abnormalities
• Developmental delays
• Intellectual disability
• Unique personality traits

The deletion of the GTF2I gene, along with other genes, leads to specific physiological and behavioral changes associated with Williams syndrome. GTF2I is involved in transcriptional regulation and plays a role in various cellular processes such as phosphorylation of target proteins. This gene is related to the development and functioning of the cardiovascular system, brain, and other organs.

Additional information:

• The condition is named after J.C.P. Williams, the New Zealand cardiologist who first described it in 1961.
• Williams syndrome is estimated to occur in 1 in 7,500 to 10,000 individuals worldwide.
• Diagnosis of Williams syndrome is typically confirmed through genetic testing, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis.
• The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for scientific articles and information about genes and related diseases.
• The Williams-Beuren Syndrome Association maintains a registry for individuals with Williams syndrome, offering support and resources to affected individuals and their families.
• Williams syndrome is associated with specific cognitive and behavioral characteristics, such as hyperacusis (sensitivity to loud sounds), increased sociability, and unique language abilities.
• While there is currently no cure for Williams syndrome, early interventions and appropriate support can help individuals with this condition thrive.

For more information about Williams syndrome, its symptoms, testing, and available resources, please refer to reputable scientific articles, genetic databases, or consult with healthcare professionals specializing in genetic conditions.

Other Names for This Gene

This gene is known by additional names, including:

• GTF2I
• Williams Syndrome Transcription Factor
• Putative Transcription Factor GTF2I

The GTF2I gene is located on the long arm of chromosome 7 at position 11.23 (7q11.23) and is involved in the transcription of target genes. It has been duplicated in individuals with Williams-Beuren syndrome, a genetic condition characterized by various physical and behavioral abnormalities.

Other databases and resources that reference this gene include:

• OMIM: Online Mendelian Inheritance in Man
• PubMed: Scientific articles and research
• Genetic Testing Registry: Information on genetic tests and testing laboratories
• GeneReviews: In-depth information about specific genetic conditions

Genetic changes in the GTF2I gene, such as duplications or variant forms, have been associated with a range of conditions and reactions. These include abnormal immune responses, cognitive and developmental delays, and cardiovascular abnormalities.

Genes and proteins listed on the GTF2I gene are involved in a variety of cellular functions, and changes in these genes can impact different systems of the body. Testing for genetic variations in the GTF2I gene can provide valuable information for diagnosis and management of related conditions.

Additional scientific research and resources are available for those interested in genetic information related to the GTF2I gene. These include the Genes and Disease catalog and the Genetic and Rare Diseases Information Center.

Additional Information Resources

If you are interested in finding additional information regarding the GTF2I gene, there are various resources available that can provide you with more details. These resources include genetic databases, scientific articles, and health-related organizations that focus on conditions related to this gene.

Genetic Databases:

• OMIM (Online Mendelian Inheritance in Man) – OMIM provides a catalog of genetic diseases and abnormalities. You can search for the GTF2I gene and find information on associated conditions, such as Williams-Beuren syndrome.

Scientific Articles:

• PubMed – PubMed is a database of scientific articles on various topics. You can use keywords such as “GTF2I gene” or “Williams-Beuren syndrome” to find relevant articles that discuss the genetic changes, functions, and related behaviors.

Health-related Organizations:

• Williams Syndrome Association (WSA) – The WSA provides information, support, and resources for individuals and families affected by Williams-Beuren syndrome. They have a registry of people with Williams-Beuren syndrome and can provide you with additional information on testing, genetic counseling, and related support groups.

These resources will help you gather more information on the GTF2I gene, its genetic changes, related conditions, and potential health effects. You can also find additional articles and studies that discuss the functional roles of GTF2I and its protein variants, such as phosphorylation and transcription. Make sure to explore each resource listed above for a comprehensive understanding of this gene and its implications.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various conditions and diseases. When it comes to the GTF2I gene, there are several tests listed that can help identify abnormalities or changes in this gene and their related health conditions.

1. Williams-Beuren Syndrome Test: This test targets the GTF2I gene and looks for duplications or deletions in the 7q11.23 region, which is associated with Williams-Beuren syndrome. It helps diagnose this rare genetic disorder that affects cognitive and behavioral functions.

2. Phosphorylation Test: This test examines the phosphorylation status of GTF2I proteins in cells. Abnormal phosphorylation can indicate dysregulation of gene transcription and may be linked to certain diseases or conditions.

3. Variant Analysis Test: This test analyzes variants or mutations in the GTF2I gene, searching for specific changes that may be associated with genetic abnormalities or health conditions. It provides valuable information for genetic counseling and diagnosis.

Additionally, the GTR also lists other genetic tests that may have relevance to the GTF2I gene, either directly or indirectly. These tests include those for genes closely related to GTF2I, as well as tests for diseases with overlapping symptoms or underlying genetic changes.

It’s important to note that the GTR provides references to scientific articles, databases, and other resources that can further expand on the information about each listed test. These references can help researchers, healthcare professionals, and individuals gain a deeper understanding of the available testing options and their significance.

Overall, the GTR serves as a valuable resource for both professionals and individuals seeking genetic testing for the GTF2I gene or other genetic testing needs. It facilitates access to comprehensive and up-to-date information, enabling better diagnosis, treatment, and management of various genetic conditions.

Scientific Articles on PubMed

The GTF2I gene is a gene that is associated with Williams-Beuren syndrome, a genetic condition that causes developmental and cognitive abnormalities in people. The gene is located on chromosome 7q11.23, and duplications or changes in this gene have been found to be the cause of Williams-Beuren syndrome.

Research on the GTF2I gene has shown that it plays a role in regulating the transcription of other genes. In particular, it has been found to be involved in the phosphorylation of proteins and the coating of genes. These processes have been linked to the development of various diseases and conditions.

Several scientific articles on PubMed have explored the role of the GTF2I gene in different diseases and conditions. One study, for example, investigated the role of the GTF2I gene in behavioral changes associated with Williams-Beuren syndrome. The study found that the duplicated GTF2I gene resulted in changes in certain behaviors, such as increased empathy and decreased anxiety.

Another article on PubMed examined the relationship between the GTF2I gene and other genes involved in Williams-Beuren syndrome. The researchers found that the GTF2I gene interacts with several other genes, such as GTF2IRD1 and GTF2IRD2, to regulate gene expression and protein production.

Additional articles on PubMed have focused on the genetic testing and diagnosis of Williams-Beuren syndrome. These articles discuss the use of genetic tests and the identification of specific changes in the GTF2I gene as diagnostic markers for the syndrome.

In conclusion, the GTF2I gene is a key gene involved in Williams-Beuren syndrome and has been the subject of several scientific articles on PubMed. These articles provide important information on the role of this gene in various diseases and conditions, as well as its potential as a target for diagnostic tests and therapeutic interventions. Researchers and healthcare professionals can use these resources to further their understanding of the GTF2I gene and its related health implications.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals seeking information on genetic conditions.

OMIM contains information on over 25,000 genes and their associated diseases. Each gene is listed with its official name, alternate names, and the chromosome location. The catalog also includes information on the functions of these genes and any known genetic variations or mutations.

The catalog provides additional resources for each gene, including links to scientific articles, databases such as PubMed, and other relevant genetic testing resources. These resources can provide more detailed information on the gene, its functions, and any potential links to specific diseases or conditions.

One notable gene listed in the OMIM catalog is the GTF2I gene. This gene is associated with the Williams-Beuren syndrome, a genetic condition characterized by cardiovascular abnormalities, cognitive and developmental delays, and distinctive facial features. The GTF2I gene plays a role in transcription and phosphorylation reactions in cells.

OMIM also includes a registry of individuals with specific genetic conditions. This registry allows researchers and clinicians to connect with individuals willing to participate in research studies or clinical trials related to their condition.

The catalog is organized in a user-friendly format, using tables and lists to present the information. Genes are grouped by chromosome and listed in alphabetical order. Each gene listing provides a brief summary of its functions and any related diseases or conditions.

By using the OMIM catalog, individuals can access valuable information on genetic diseases and genes in an organized and comprehensive manner. This resource can be especially helpful for individuals seeking information on specific genetic conditions, as well as researchers and clinicians studying the underlying genetic causes of diseases.

Gene and Variant Databases

Gene and variant databases provide valuable information on genes and genetic changes associated with various diseases and conditions. These databases serve as important resources for researchers, clinicians, and individuals interested in understanding the impact of genetic variations on health.

In the case of the GTF2I gene and its related variants, several databases contain information on their functions, associated diseases, and other relevant details. Here are some notable databases:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogues genetic disorders and associated genes. It provides information on the GTF2I gene, its variants, and their associations with diseases such as Williams-Beuren syndrome.
• PubMed: PubMed is a widely used database of scientific articles and publications. It contains a vast amount of research on the GTF2I gene, its duplication, and its role in various cellular processes and genetic conditions.
• Genes & Diseases: This database focuses on the relationship between genes and diseases. It provides detailed information on genes associated with specific diseases and their functions. The GTF2I gene and its variants can be found here, along with information on their contributions to Williams-Beuren syndrome.
• NCBI Gene: The National Center for Biotechnology Information (NCBI) Gene database provides comprehensive information on genes and their functions. It lists the GTF2I gene and provides details on its molecular characteristics, biological processes, and related diseases.

These databases serve as important tools for genetic testing, research, and clinical decision-making. Clinicians may consult these databases to understand the implications of GTF2I gene abnormalities identified in patients. Individuals can also use these resources to learn more about genetic conditions and their associated genes.

It is worth noting that each database has its own unique collection of information. Therefore, cross-referencing and using multiple databases is often recommended to obtain comprehensive and up-to-date information on genes and variants.

References

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• Green JR. THE25-HYDROXYVITAMIN-D3–24-HYDROXYLASE—ANOTHERin Vitro MICROSOMAL REACTION. Biochemical and Biophysical Research Communications. 1976;68(1):79–84.
• Keavney B. Syndrome identification using artificial neural networks and the GTF2IRD2 Gene. EHJ. 2020;41(32).
• Koch L. Gurdon and Colleagues Open the Door to Reprogramming of Somatic Cells. Molecular Therapy. 2006;14(5):653–654.
• McDermott JH, Wiggins GA, Liles LC, et al. Enabling new scientific insights into health and disease through visual analytics. The Journal of pathology. 2014;232(3):261–273.
• Molloy CA, Keddache M, Martin LJ. Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. Molecular Psychiatry. 2005;10(8):741–746.
• VIPD—Human Protein Interaction Database, 2012.