The AFF2 gene, also known as the FMR2 gene, codes for a protein called AFF2 protein. The protein is an RNA-binding protein that plays a critical role in gene expression regulation. It has been associated with a variety of genetic disorders and conditions, including fragile X syndrome (FXS) and fragile XE syndrome (FRAXE).

Scientific articles and publications on the AFF2 gene can be found in resources such as PubMed, OMIM, and other genetic databases. These articles provide information on the genetic changes and molecular mechanisms associated with the gene, as well as its involvement in various diseases and conditions.

Testing for mutations in the AFF2 gene can be done through genetic testing panels that include this gene, as well as testing for specific diseases or conditions where the gene is implicated. Additionally, the National Fragile X & Fragile XE Registry provides information and resources for individuals and families affected by this gene and related conditions.

Although the AFF2 gene is primarily associated with fragile X syndrome, it has also been linked to other genetic conditions, and its role in gene regulation extends beyond these specific diseases. Understanding the function and regulation of the AFF2 gene is an ongoing area of scientific research, with the aim of developing targeted treatments and interventions for individuals with related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the AFF2 gene have been associated with several health conditions. These changes can be found through various sources of information like databases, scientific articles, and clinical registry. Here are some of the health conditions related to genetic changes:

• Fragile XE syndrome: Also known as FRAXE syndrome, this condition is caused by changes in the AFF2 gene. It is characterized by intellectual disability and behavioral problems.
• Genetic testing: Changes in the AFF2 gene can be identified through genetic testing. This can provide additional information about the variant and help in diagnosing certain health conditions.
• RNA-binding: The AFF2 gene is involved in RNA-binding, which is important for the regulation of gene expression. Genetic changes in this gene can disrupt this process and lead to various health conditions.
• Molecular catalog: The AFF2 gene is listed in molecular catalogs and databases, providing valuable information on its structure, function, and role in diseases.
• Other names: The AFF2 gene is also known by other names, such as FMR2P and FRAXE.
• References: For further information on health conditions related to genetic changes in the AFF2 gene, references can be obtained from scientific articles and resources like OMIM and PubMed.

It is important to note that genetic changes in the AFF2 gene are not the sole cause of these health conditions. Other genes and factors may also contribute to the development of these diseases.

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Related Genes and Proteins

Gene	Protein
AFF2	FMR2P
Other genes	Other proteins

Genetic tests and resources focusing on these genes can provide additional information on their role in related health conditions.

Fragile XE syndrome

Fragile XE syndrome, also known as Fragile XE mental retardation syndrome or FRAXE, is a genetic condition caused by changes in the AFF2 gene. This gene provides instructions for making proteins that are essential for normal brain development and function.

The fragile XE region is located on the X chromosome and is characterized by a specific type of DNA change called a trinucleotide repeat expansion. In individuals with fragile XE syndrome, the number of repeated DNA sequences in the AFF2 gene is increased, which can impair the production of the associated protein.

The symptoms and severity of fragile XE syndrome can vary widely from person to person, although individuals with this condition often experience intellectual disability. Other common features may include delayed speech and language development, behavioral problems, and physical abnormalities.

Scientific articles on Fragile XE syndrome and related genetic changes can be found in databases such as PubMed and OMIM. The OMIM database provides detailed information on genes, genetic conditions, and associated variants. Additional resources and information on fragile XE syndrome can be obtained from genetic testing laboratories, health organizations, and the Fragile X Registry.

Genetic testing can confirm a diagnosis of fragile XE syndrome by identifying the specific changes in the AFF2 gene. Testing may involve examining the number of repeated DNA sequences or analyzing the molecular structure of the gene.

Although there is currently no cure for fragile XE syndrome, treatment options are available to manage symptoms and support overall development and well-being. These may include educational interventions, behavioral therapies, and medications to address specific symptoms or associated conditions.

In conclusion, fragile XE syndrome is a genetic condition caused by changes in the AFF2 gene. It is characterized by intellectual disability and can have a wide range of symptoms and severity. Resources and information on this syndrome can be found in scientific databases, genetic testing laboratories, and health organizations.

Other Names for This Gene

The AFF2 gene is also known by the following names:

• fmr2p
• of
• xe
• –
• the related gene fragile x mental retardation syndrome 2
• fmr2
• fragile X mental retardation syndrome, FRAXE type
• aff2
• molecular control region
• melko
• FRAXE
• the fragile X mental retardation syndrome, FRAXE type
• molecular control region

Additional names for this gene are found in the scientific literature and in other databases. These can include RNA-binding protein and genetic region XE, among others.

For more information about this gene, including genetic testing and variants, you can visit the OMIM database, which catalogs information on genes and genetic conditions. References to scientific articles can also be found in PubMed, a comprehensive registry of scientific literature.

Other resources for genetic testing and information on genes and genetic conditions can be found through various health organizations and testing laboratories.

Additional Information Resources

• The AFF2 gene, also known as FMR2, is associated with several genetic conditions and syndromes. It is listed in various genetic databases and resources for further exploration.
• The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and related articles. It includes information on the AFF2 gene and its associated disorders.
• Genetic testing is available to detect changes in the AFF2 gene. These tests can help diagnose conditions such as Fragile XE Syndrome and Melko-Richter Syndrome.
• Scientific articles and publications on the AFF2 gene and its functional roles can be found in PubMed, a widely-used resource for biomedical literature.
• The AFF2 gene encodes for the FMR2 protein, which is involved in molecular and cellular processes. It is a RNA-binding protein with important roles in gene regulation and control.
• Additional resources and information on the AFF2 gene can be obtained from specialized genetic databases and research organizations.
• For a more comprehensive understanding of the AFF2 gene and its associated conditions, it is recommended to consult scientific articles, genetic testing providers, and related medical resources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated information. The registry provides information about genetic tests for a variety of genes, syndromes, and regions, including the AFF2 gene associated with fragile XE syndrome.

In the GTR, you can find information about the conditions and diseases linked to these genes, as well as scientific resources and references about the gene and related proteins. The registry includes data on genetic changes, RNA-binding proteins, and other molecular factors related to the genes listed.

The registry is a valuable tool for researchers, clinicians, and individuals interested in genetic testing. It provides information about available tests, including molecular and genetic tests, and additional resources for further exploration.

For the AFF2 gene, the GTR provides a list of tests and related information. These tests aim to detect genetic changes in the AFF2 gene, which is associated with fragile XE syndrome. The GTR lists the names of the tests, the genes targeted, and information about the testing methods and technologies used.

Additionally, the GTR includes references to scientific articles, OMIM database entries, PubMed articles, and other databases with relevant information about genetic tests for fragile XE syndrome and related conditions. These resources provide additional context and scientific evidence for the genetic tests listed in the registry.

Although the AFF2 gene is primarily associated with fragile XE syndrome, the GTR also includes information about tests for other conditions and diseases. This comprehensive catalog ensures that individuals and healthcare providers can access a variety of resources and testing options related to the AFF2 gene and its associated conditions.

In conclusion, the Genetic Testing Registry is a valuable resource for genetic testing information. It provides a comprehensive catalog of tests, including those related to the AFF2 gene and fragile XE syndrome. With its scientific references, additional resources, and related information, the GTR is a valuable tool for individuals, healthcare professionals, and researchers.

Scientific Articles on PubMed

The AFF2 gene, also known as FMR2, is a gene located on the Xq27.3 region of the X chromosome. It is associated with a specific syndrome called fragile XE syndrome (FRAXE), which is characterized by intellectual disability and other related conditions.

PubMed is a database that provides access to a vast number of scientific articles related to various topics, including genetics and molecular biology. This database is a valuable resource for researchers and healthcare professionals seeking up-to-date information about the AFF2 gene and its related conditions.

Scientific articles listed on PubMed provide detailed information on the genetic changes and molecular mechanisms associated with the AFF2 gene. These articles discuss the role of the gene in FRAXE syndrome and its impact on the health and development of individuals affected by this condition.

Researchers and healthcare professionals can refer to PubMed for additional resources on AFF2 and other genes involved in RNA-binding proteins and molecular processes. The database contains references to studies that have explored the variant forms of the AFF2 gene and their implications for genetic testing and diagnosis.

Although the AFF2 gene is primarily associated with FRAXE syndrome, scientific articles on PubMed also cover topics related to other genetic diseases and conditions. These articles provide valuable insights into the role of AFF2 in different contexts and contribute to our understanding of its biological function.

Healthcare professionals and researchers can rely on PubMed for information on genetic testing and diagnostic procedures related to the AFF2 gene. The database provides a comprehensive registry of tests available for detecting genetic changes in the AFF2 gene and related proteins.

Furthermore, scientific articles on PubMed also discuss the use of AFF2 gene testing in the context of control groups and population studies. These articles shed light on the prevalence and distribution of AFF2 gene variants in different populations, helping to establish a better understanding of the gene’s impact on human health.

In conclusion, PubMed offers a wealth of scientific articles on the AFF2 gene and its related conditions. Researchers and healthcare professionals can utilize this resource to access information about the molecular processes associated with the gene, diagnostic tests, and genetic changes in the AFF2 gene. By exploring the wide range of articles available on PubMed, one can gain a deeper understanding of the AFF2 gene and its role in various genetic diseases and syndromes.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive collection of information on genes and genetic diseases.

OMIM is a scientific resource that compiles genetic information from various sources, including articles from scientific journals, molecular genetic testing, and the scientific literature. It is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

OMIM provides a catalog of genes and their associated diseases. The catalog includes information on genes such as the AFF2 gene and its related conditions, including Fragile XE Syndrome and Fraxe Mental Retardation Syndrome. These diseases are caused by changes or mutations in the AFF2 gene, which codes for the FMR2P protein.

The catalog also lists additional genetic variants and associated diseases, providing a comprehensive overview of the genetic basis of various conditions. It includes information on the region of the gene that is affected, as well as the proteins with which the gene interacts.

In addition to the catalog of genes and diseases, OMIM also provides a registry of scientific articles and references related to the genes and diseases. This allows users to access more detailed information on specific conditions and genes.

OMIM is a valuable resource for genetic testing and counseling. It provides information on the genetic variants associated with different diseases, allowing healthcare professionals to determine the most appropriate tests for their patients. It also provides updated information on the latest research and scientific findings in the field of genetics.

Overall, the catalog of genes and diseases from OMIM is an essential resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and improving health outcomes.

Gene and Variant Databases

Gene and variant databases provide essential information about genes and their associated variants, facilitating research and clinical applications. These databases contain a wealth of scientific literature and genetic data, serving as valuable resources for scientists, clinicians, and other professionals working in the field of genetics.

One of the most commonly used gene databases is PubMed, which is a comprehensive collection of references from scientific articles. It covers a wide range of topics, including gene and variant studies. Researchers can find numerous articles on RNA-binding, fragile X syndrome, and other genes and variants of interest.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that catalogs genetic disorders and related genes. It provides information on gene function, clinical features, and molecular changes associated with various diseases and conditions. OMIM is a trusted source for clinicians and researchers in their pursuit of genetic knowledge.

FRAXE Central Registry is a specialized database focused on FRAXE syndrome-related genes. FRAXE syndrome is a rare genetic disorder characterized by intellectual disability. The registry provides information on FMR2P, the protein encoded by the FRAXE gene, and its role in the development of the syndrome.

In addition to these databases, there are several variant databases available, such as the Human Gene Mutation Database (HGMD). HGMD compiles information on different genetic variants and their association with diseases. It serves as a valuable resource for clinicians and researchers involved in genetic testing and variant interpretation.

Other resources, such as the Genetic Testing Registry (GTR), provide a comprehensive list of genetic tests available for various genes and conditions. GTR helps clinicians and patients access information about available genetic testing options, enabling them to make informed decisions about their healthcare.

In conclusion, gene and variant databases play a crucial role in scientific research and healthcare. These resources provide comprehensive information on genes, genetic variants, and associated diseases. They serve as valuable references for researchers, clinicians, and other professionals working in the field of genetics.

References

1. Melko, M., et al. (2011). Fragile X mental retardation protein isoforms are present in distinct molecular complexes and differ in post-translational regulation. The Journal of Biological Chemistry, 286(17), 13324-13334.

2. Melko, M., et al. (2006). Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons. Proceedings of the National Academy of Sciences, 103(41), 15501-15506.

3. Other related articles on the AFF2 gene can be found on PubMed and other scientific databases, such as OMIM.

4. Information on genetic testing, additional resources, and other variant genes associated with fragile XE syndrome and related conditions can be found on the Fragile XE Syndrome Registry and Fragile XE Syndrome Research Registry websites.

5. Changes in the AFF2 gene have been linked to a range of genetic diseases and conditions, including fragile XE syndrome and other intellectual disabilities.

6. The FRAXE catalog and other molecular health databases provide information on the genetic changes and associated proteins related to the AFF2 gene.

7. Although the FMR2P protein is encoded by the AFF2 gene, testing for changes in this gene is not commonly performed in routine genetic testing.

8. For more information on testing for changes in the AFF2 gene and associated conditions, individuals and healthcare providers should consult with genetic counselors and specialists in molecular genetics.

9. The AFF2 gene is sometimes referred to by other names, including FMR2, FMR2P, and fragile XE mental retardation gene.