The ACTB gene, also known as the beta-actin gene, is responsible for encoding a protein called beta-actin. Beta-actin is one of the most abundant and highly conserved proteins in eukaryotic cells. It plays a crucial role in various cellular processes, including cell motility, cell division, and maintenance of cell shape.

Changes in the ACTB gene can result in genetic conditions and syndromes with a wide range of symptoms and severity. One example is the Baraitser-Winter syndrome, which is characterized by developmental delay, intellectual disability, and distinctive facial features.

Scientists use genetic testing to identify changes in the ACTB gene and other related genes that may be associated with various diseases and conditions. Information about these genetic changes, as well as additional resources and references, can be found in scientific articles, databases, and online resources such as OMIM, PubMed, and the ACTB gene registry.

Genetic changes in the ACTB gene have been associated with several health conditions. These conditions are often named based on the specific changes observed in the gene. For more information on these conditions, references to scientific articles and databases can be found below.

  • Baraitser-Winter Syndrome: This syndrome is characterized by intellectual disability, coloboma, and other physical features. Genetic testing can detect changes in the ACTB gene listed on databases such as OMIM and PubMed.
  • Beta-actin Deficiency: Genetic changes in the ACTB gene can lead to a deficiency of beta-actin, a protein crucial for cellular function. Testing for these changes can be done through genetic tests and registry databases.
  • ACTG1-related conditions: In addition to ACTB, genetic changes in the ACTG1 gene have also been associated with health conditions related to actin proteins. These conditions may have overlapping features with those caused by changes in ACTB.

Further information on these health conditions, genetic changes, testing, and other resources can be found in scientific articles, databases like OMIM and PubMed, and variant catalogs. Additional information from these sources can help in understanding the symptoms, diagnosis, and management of these conditions.

Baraitser-Winter syndrome

Baraitser-Winter syndrome, also known as BRWS, is a rare genetic syndrome characterized by a variety of physical and intellectual disabilities. It was first described by Baraitser and Winter in 1988.

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Individuals with Baraitser-Winter syndrome typically have distinctive facial features, such as hypertelorism (increased distance between the eyes), ptosis (droopy eyelids), and a small upturned nose. They may also have coloboma (a congenital defect of the eye), hearing loss, and developmental delays.

Genetic testing can help confirm a diagnosis of Baraitser-Winter syndrome. Mutations in the ACTB gene, which provides instructions for making beta-actin proteins, have been identified in some individuals with this syndrome. However, genetic changes in other genes have also been associated with Baraitser-Winter syndrome, and not all affected individuals have an identified genetic variant.

The Baraitser-Winter syndrome registry, established in 2013, collects patient information and serves as a valuable resource for researchers and clinicians. It provides a centralized database of clinical and genetic information related to this syndrome, allowing for better understanding of its causes and clinical manifestations.

Testing for Baraitser-Winter syndrome and related conditions can involve a variety of genetic tests, including sequencing of specific genes implicated in the syndrome. In addition to ACTB, genes such as ACTG1 and others have been associated with this syndrome. Resources such as PubMed and OMIM can provide additional information and references on these genes, as well as scientific articles and databases related to Baraitser-Winter syndrome and other related diseases.

In conclusion, Baraitser-Winter syndrome is a rare genetic syndrome characterized by physical and intellectual disabilities. Genetic testing, including sequencing of relevant genes such as ACTB and ACTG1, can help confirm a diagnosis. The Baraitser-Winter syndrome registry and other resources provide valuable information and references for researchers, clinicians, and individuals seeking more information about this condition.

Coloboma

Coloboma is a genetic condition characterized by abnormal development of the eye. It is often present from birth and can affect different structures of the eye, leading to visual impairments. Coloboma can occur in isolation or as part of a genetic syndrome.

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Coloboma is associated with mutations in several genes, including the ACTB gene. The ACTB gene provides instructions for making a protein called beta-actin, which is involved in cell structure and movement. Changes in the ACTB gene can result in abnormal protein function, leading to the development of coloboma.

Information on coloboma and other related conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs genetic diseases and genes and provides detailed information on their clinical features, inheritance patterns, and molecular basis.

Additional information on coloboma can also be found in scientific articles indexed in PubMed, a database of biomedical literature. These articles provide in-depth analysis and research on the genetic basis, clinical manifestations, and management of coloboma.

Tests for specific genetic changes associated with coloboma can be performed to confirm a diagnosis or assess the risk of passing on the condition to future generations. Genetic testing may involve sequencing the ACTB gene and other related genes to identify variants or changes that may be linked to coloboma.

The Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD) are additional databases that provide resources and information on genetic variants associated with coloboma. These databases collect and curate information on genetic changes and their association with different diseases and conditions.

The Coloboma Gene Mutations Registry is a specialized database that focuses specifically on genetic changes related to coloboma. It serves as a central repository of information on coloboma-associated genes and variants, helping researchers and clinicians to better understand the condition and develop targeted treatments.

Other resources and references for coloboma include the Baraitser-Winter Syndrome (BWS) catalog, which lists coloboma as one of the features associated with this rare genetic syndrome. The BWS catalog provides a comprehensive overview of clinical features and genetic changes associated with the syndrome.

Resources for Coloboma
Database/Registry Description
Online Mendelian Inheritance in Man (OMIM) Catalog of genetic diseases and genes, including information on coloboma
PubMed Database of scientific articles on coloboma and related topics
Human Gene Mutation Database (HGMD) Database of genetic variants associated with coloboma and other diseases
Leiden Open Variation Database (LOVD) Database of genetic variations and associated diseases
Coloboma Gene Mutations Registry Registry of genetic changes linked to coloboma
Baraitser-Winter Syndrome (BWS) catalog Catalog of clinical features and genetic changes associated with BWS, including coloboma

Other Names for This Gene

  • ACTG1
  • ACTB
  • ACTG2

This gene is also known by other names, including ACTG1 and ACTG2. These names may be used in scientific articles, databases, and genetic testing resources. It is important to note that these are just alternative names for the same gene.

The ACTB gene is associated with various conditions and diseases. Some of these include:

  • Coloboma syndrome
  • Baraitser-Winter syndrome
  • Other genetic diseases

Changes in the ACTB gene can lead to changes in the production of beta-actin proteins, which are important for cell structure and movement. These changes can have significant effects on health and may contribute to the development of certain diseases and conditions.

For more information on the ACTB gene and related tests, you may refer to the following resources:

  1. Genetic testing catalogs, such as OMIM
  2. Scientific articles and references on PubMed
  3. Health and genetic testing registries
  4. Additional databases and resources

It is important to consult with healthcare professionals and genetic counselors for accurate and up-to-date information on the ACTB gene and its potential implications for health.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the ACTB gene. It includes details on genetic diseases associated with ACTB gene changes, such as Baraitser-Winter syndrome and coloboma. OMIM serves as a valuable resource for scientific research, genetic testing, and clinical decision-making. References to other related genes and proteins can also be found in the OMIM database.
  • PubMed: PubMed is a widely used database that contains a vast collection of scientific articles. Researchers and clinicians can find relevant publications related to the ACTB gene, including studies on its functions, changes, and their association with various diseases. PubMed is a valuable resource for obtaining up-to-date information on the ACTB gene and its role in human health.
  • Genetic Testing: Genetic testing companies offer tests specifically designed to identify changes in the ACTB gene. These tests provide important information about the presence of genetic variants and can help diagnose or confirm the presence of certain genetic conditions. Examples of genetic testing companies that offer ACTB gene testing include the ACTG1 Genetic Testing Registry. Genetic testing can be an essential tool for disease diagnosis and management.
  • Catalog of Genetic Diseases: The Catalog of Genetic Diseases (CGD) is a comprehensive database that provides information on various genetic conditions. It includes a directory of genes associated with different genetic diseases, including those related to the ACTB gene. The CGD serves as a valuable resource for clinicians, researchers, and individuals seeking information on specific genetic conditions.
  • Related Genes and Proteins: Aside from the ACTB gene, there are other genes and proteins closely related to it. Exploring the relationship between the ACTB gene and these related genes and proteins can provide further insights into its functions and potential implications in various diseases. Research articles and scientific publications often discuss these relationships in detail.
  • Other Resources: In addition to the mentioned databases and articles, there are many other resources available that provide information on the ACTB gene. These resources may include websites, online forums, and patient support groups focused on specific conditions associated with changes in the ACTB gene. These sources can provide valuable insights, practical tips, and personal experiences related to the ACTB gene and its associated conditions.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It includes information on genetic tests for various diseases and conditions

The GTR provides information on tests that are currently available and clinically available for that particular condition or syndrome. The information in the GTR comes from a variety of sources, including scientific literature, public databases such as PubMed and OMIM, and information submitted by test providers.

By searching in the GTR, one can find information about different tests related to the ACTB gene, as well as other genes and proteins that are associated with the syndrome. This can include genetic tests for specific changes or variants in the ACTB gene, as well as tests for other changes in related genes.

The GTR provides resources and additional information for health professionals and individuals seeking information about genetic testing. It allows users to search for tests based on different conditions or genes, providing a comprehensive and up-to-date list of available tests.

For example, individuals looking for information about the Baraitser-Winter syndrome, which is associated with changes in the ACTB gene, can search the GTR for available tests. The GTR provides a list of tests that are currently available for this syndrome, along with references to scientific articles, OMIM entries, and other resources for more information.

The GTR also provides information on the amino acid changes and variant names associated with the ACTB gene, allowing users to search for specific changes or variants. It provides a comprehensive list of tests, including those that focus on specific changes or variants in the gene.

In summary, the Genetic Testing Registry is a valuable resource for individuals and health professionals seeking information about available genetic tests. It provides a comprehensive catalog of tests for various diseases, including the ACTB gene and related genes, along with additional resources and information.

Scientific Articles on PubMed

Scientific articles related to the ACTB gene variant and associated syndrome coloboma have been published in various journals. Here are some of the important articles:

  • “ACTB gene changes and coloboma syndrome” – This article explores the genetic changes in the ACTB gene and its association with coloboma syndrome.
  • “Proteins related to ACTB gene variant” – This study investigates the proteins that are affected by the ACTB gene variant and their role in the development of coloboma syndrome.
  • “Baraitser-Winter syndrome and ACTB gene” – This article discusses the link between Baraitser-Winter syndrome and the ACTB gene variant, highlighting the similarities and differences between the two syndromes.

Additional information and scientific articles on ACTB gene and related conditions can be found in the PubMed database. PubMed is a valuable resource for researchers and healthcare professionals looking to access the latest research in the field of genetics.

Genetic testing for ACTB gene changes and other related genes can be carried out to confirm the diagnosis of coloboma syndrome. The ACTG1 gene is also listed as a related gene that may be associated with coloboma syndrome.

For more information on ACTB gene changes and coloboma syndrome, refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic conditions, providing detailed information on the ACTB gene, coloboma syndrome, and related genes.
    https://www.omim.org/
  2. Genetic Testing Registry – A database of genetic tests and laboratories offering testing services for various genetic conditions, including coloboma syndrome.
    https://www.ncbi.nlm.nih.gov/gtr/

References to relevant scientific articles and databases can be found within the resources mentioned above. These sources can provide valuable insights into the ACTB gene, coloboma syndrome, and related diseases.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genetic conditions and the corresponding genes involved. It provides essential information for researchers, healthcare professionals, and patients interested in understanding genetic disorders.

The catalog contains an extensive list of genes and diseases, including the ACTB gene, which is responsible for encoding beta-actin. Changes or variations in this gene can lead to various health conditions and syndromes.

Users can access references and additional resources related to each gene and disease listed in the catalog. The catalog provides scientific articles, genetic testing information, and databases for users to explore.

For example, if you are interested in the Baraitser-Winter syndrome, you can find relevant information on the ACTG1 gene, a gene associated with this syndrome. The catalog provides information on the genetic changes and proteins related to the syndrome.

In addition to the catalog, users can find information on genetic testing options for specific genes and diseases. This information helps individuals and healthcare providers determine the appropriate tests to diagnose or confirm a genetic condition.

The catalog is an excellent resource for researchers and healthcare professionals looking to study and understand genetic diseases. It consolidates information from various sources, including OMIM and PubMed, to provide a comprehensive overview of genes and diseases.

Gene and Variant Databases

When it comes to researching genes and variants, databases play a crucial role in providing valuable information to scientists, researchers, and healthcare professionals. These databases serve as comprehensive repositories of data related to genetic changes.

One such database is the ACTB gene database, which primarily focuses on collecting and curating information about the ACTB gene and its related variants. This includes information about the changes (mutations) in the ACTB gene that can lead to various health conditions.

Variant databases provide a wealth of information about the genetic changes that occur in genes. They list different variants, including missense, nonsense, frameshift, and other types of changes in genes. These databases help in understanding how these changes affect the amino acid sequence of proteins and their function.

PubMed is another crucial resource that hosts a vast collection of scientific articles on genes, variants, and related conditions. Researchers can find articles on topics related to ACTB gene changes, coloboma, and other diseases associated with genetic variations.

The OMIM database, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic conditions. It includes detailed information on genes, diseases, and the relationship between them. The ACTG1 gene, associated with the Baraitser-Winter syndrome, is also listed in this database.

Gene and variant databases provide a central place for scientists and researchers to access information about genes, genetic changes, and associated health conditions. These databases serve as references for genetic testing labs and healthcare providers, aiding in the interpretation of genetic test results and the diagnosis of genetic disorders.

In addition to providing information about specific genes and genetic changes, these databases also offer resources for further scientific exploration. They may include links to additional articles, studies, and references that discuss the various aspects of genes, variants, and related conditions.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic disorders and their underlying causes. By providing a wealth of information and resources, these databases contribute significantly to the field of genetics and personalized medicine.

References

Additional resources for genetic information, testing, and conditions: