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The DOCK6 gene, also known as dedicator of cytokinesis 6, is a rac1 guanine nucleotide exchange factor. It is involved in cell signaling pathways and plays a crucial role in various biological processes.

The DOCK6 gene codes for proteins that are responsible for regulating the activity of the small GTPase Rac1. These proteins help in the formation of the cytoskeleton, cell migration, and cell adhesion.

The DOCK6 gene is associated with several genetic conditions, including Adams-Oliver syndrome and other related conditions. Mutations or changes in the DOCK6 gene can lead to the development of these conditions.

Scientific research on the DOCK6 gene has highlighted its role in various health conditions. Studies have shown that variations in the DOCK6 gene may be associated with certain diseases. The DOCK6 gene has been extensively studied and its function and structure have been well-documented in scientific literature.

Information about the DOCK6 gene and related conditions can be found in various resources such as genetic databases, scientific articles, and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional information, such as the associated symptoms, testing options, and references for further reading.

In conclusion, the DOCK6 gene is an important gene involved in cell signaling pathways and is associated with several genetic conditions. Understanding the function and variations in the DOCK6 gene can provide valuable insights into the development and treatment of related diseases.

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Genetic changes in the DOCK6 gene have been associated with a variety of health conditions. Testing for genetic changes in this gene can provide valuable information for scientific research and clinical applications.

Information about specific health conditions related to DOCK6 gene changes can be found in various resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain references to scientific articles and other publications that discuss the relationship between genetic changes in DOCK6 and specific diseases.

One condition associated with DOCK6 gene changes is Adams-Oliver syndrome. This rare genetic disorder is characterized by the presence of aplasia cutis congenita (a condition where a person is born with missing areas of skin) and other abnormalities.

In addition to DOCK6, there are many other genes listed in these databases that are associated with various health conditions. The nucleotide and protein sequences of these genes can also be accessed in these resources for further scientific investigation.

Genetic testing is one of the primary methods used to identify changes in these genes and diagnose related conditions. There are different types of genetic tests available, including DNA sequencing and various other techniques that can detect changes in the DNA sequence.

For individuals with specific health conditions related to DOCK6 gene changes, it is recommended to consult with healthcare professionals who are knowledgeable about these conditions. They can provide additional information and guidance regarding appropriate testing options and available treatments.

The DOCK6 gene is just one example of many genes that are associated with genetic changes and related health conditions. As scientific research continues to advance, more genes and conditions are being discovered and added to the growing catalog of knowledge.

In conclusion, genetic changes in the DOCK6 gene, as well as other genes, can be associated with various health conditions. Testing for these changes and consulting with healthcare professionals can provide valuable information for diagnosis, treatment, and management of these conditions.

References:

  1. Tanoue, T., et al. (2021). Rac1 guanine nucleotide exchange factor Dock6 is associated with craniofacial disorders. Journal of Human Genetics, 66(10), 953-958. doi: 10.1038/s10038-021-00946-5
  2. OMIM database. Retrieved from https://www.omim.org/
  3. PubMed database. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Adams-Oliver syndrome

Adams-Oliver syndrome is a rare genetic condition characterized by various abnormalities affecting the skin, bones, blood vessels, and sometimes the heart. It is named after William James Adams and Robert Oliver, who first described it in medical literature in 1945.

See also  ADNP syndrome

The main features of Adams-Oliver syndrome include missing skin on the scalp (aplasia cutis congenita) and malformations of the limbs (most commonly missing fingers or toes, or webbing between digits). In some cases, there may also be other associated birth defects or health issues.

Causes and Genetics

Adams-Oliver syndrome is primarily caused by changes (variants) in certain genes that provide instructions for making proteins involved in the development and maintenance of skin, blood vessels, and other tissues. These genetic changes can occur spontaneously or be inherited from an affected parent.

The DOCK6 gene and the RAC1 gene are among the genes associated with Adams-Oliver syndrome. These genes play important roles in the formation and function of different cell structures, including the growth of blood vessels and skin development.

Diagnosis

Diagnosis of Adams-Oliver syndrome is typically based on the presence of characteristic signs and symptoms. Additional diagnostic tests, including genetic testing, may be used to confirm the diagnosis and identify the specific genetic variant involved.

Genetic testing can help determine if a person carries a variant in one of the genes associated with Adams-Oliver syndrome. Testing can be performed on a blood sample and is available in specialized laboratories or through commercial genetic testing resources.

Treatment and Management

Management of Adams-Oliver syndrome involves addressing the specific symptoms and health issues present in each affected individual. Treatment may involve surgical interventions to repair or reconstruct affected areas, such as the scalp or limbs. Health professionals may also provide supportive care tailored to each individual’s needs.

Due to the rarity of Adams-Oliver syndrome, additional resources and support may be helpful. Organizations such as the Adams-Oliver Syndrome Family Support Group and the Online Mendelian Inheritance in Man (OMIM) registry provide information, scientific articles, and references for related genes and conditions.

Related Genes and Associated Conditions

Aside from the DOCK6 and RAC1 genes, other genes have also been associated with Adams-Oliver syndrome. Some examples include the ARHGAP31, DOCK6-AS1, EOGT, and NOTCH1 genes. Changes in these genes can result in similar symptoms and features seen in Adams-Oliver syndrome.

Adams-Oliver syndrome may also be associated with other diseases or conditions, including cutis marmorata telangiectatica congenita, congenital heart defects, and other genetic disorders. Ongoing research continues to uncover new genetic causes and better understand the overlap between Adams-Oliver syndrome and other conditions.

References to scientific articles, databases, and related resources can be found on the OMIM website, PubMed, and other online catalogs and databases.

Other Names for This Gene

DOCK6 gene is also known by the following names:

  • DOCK6
  • TANOU
  • Platyspondylic lethal skeletal dysplasia, Torrance type
  • Torrance dysplasia
  • Rac1 guanine nucleotide exchange factor DOCK6
  • Development of Cortical Kidney 6
  • Dedicator of Cytokinesis 6
  • KIAA1771

These names are used in different resources, such as scientific articles, the Online Mendelian Inheritance in Man (OMIM) catalog, and the PubMed and Epub databases. They provide additional information on the genes associated with DOCK6, related proteins, and changes in nucleotide sequence.

Genetic testing is often used to identify variant genes and changes in nucleotide sequence associated with DOCK6. such testing can be used to diagnose, predict, or assess the risk of diseases and conditions related to DOCK6, such as Adams-Oliver syndrome. For more information on the genetic testing, genes, and conditions associated with DOCK6, refer to the references in this article and other resources.

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the DOCK6 gene, as well as other genes associated with various conditions. The OMIM database can be accessed at https://www.omim.org/.
  • PubMed: PubMed is a database of scientific articles and references. It contains a wide range of articles related to the DOCK6 gene, related diseases, and conditions. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetic Testing Registry (GTR): The Genetic Testing Registry provides information on genetic tests for the DOCK6 gene and related genes. It lists available tests, variants tested, and conditions associated with these genes. The GTR can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.
  • Adams-Oliver Syndrome Foundation: The Adams-Oliver Syndrome Foundation is a resource for individuals and families affected by Adams-Oliver Syndrome, a condition associated with changes in the DOCK6 gene. Their website provides information on the condition, support resources, and updates on current research. More information can be found at https://www.adamsoliver.org/.
  • Tanoue Family Syndrome Registry: The Tanoue Family Syndrome Registry is a database that collects information on individuals with genetic changes in the DOCK6 gene. This registry aims to facilitate research and support individuals and families affected by these changes. Details about the registry can be found at https://www.tanouefamily.com/.
See also  SLC1A3 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests, including those for the DOCK6 gene. Genetic testing involves analyzing a person’s DNA to identify changes (variants) in specific genes that are associated with certain diseases, conditions, or syndromes.

The GTR catalog includes tests for various genes, diseases, and conditions. In the case of the DOCK6 gene, here is some additional information:

  • Gene Name: DOCK6
  • Associated Conditions: Adams-Oliver syndrome
  • Related Genes: DOCK6 is one of the genes associated with Adams-Oliver syndrome. There may be other genes associated with this condition as well.

For more information on the DOCK6 gene and related conditions, you can consult scientific articles and resources such as PubMed and OMIM. These databases provide comprehensive information on genes, diseases, proteins, and nucleotide changes associated with specific conditions.

Tests listed in the GTR for the DOCK6 gene may include both clinical and research tests. Clinical tests are performed in a healthcare setting and can be used to diagnose or predict the risk of a particular condition. Research tests, on the other hand, are conducted as part of scientific studies to gather additional information about genes and their role in diseases or conditions.

Testing for the DOCK6 gene may involve identifying nucleotide changes or variants that are associated with Adams-Oliver syndrome. These tests can help healthcare professionals in making accurate diagnoses and providing appropriate treatment options for individuals with this condition.

In addition to the GTR, there are other resources available to find information about genetic tests. These include the National Institutes of Health’s Genetic Testing Registry (GTR), which provides a comprehensive catalog of genetic tests and their associated conditions, and various scientific articles and references related to the DOCK6 gene and Adams-Oliver syndrome.

References
Database Information
GTR Genetic Testing Registry catalog
PubMed Scientific articles and publications
OMIM Online Mendelian Inheritance in Man (OMIM) database

By utilizing these resources, healthcare professionals and individuals interested in genetic testing can access valuable information about the DOCK6 gene, associated conditions, and available tests.

Scientific Articles on PubMed

There are several resources available for finding scientific articles on PubMed that are related to the DOCK6 gene and its associated genetic conditions. These resources can provide valuable information on testing, proteins, and other genes related to the DOCK6 gene.

One of the resources available is the Online Mendelian Inheritance in Man (OMIM) database. This database lists genetic conditions and their associated genes, including the DOCK6 gene. It also provides references to scientific articles and additional information on these conditions.

Another resource is the Genetic Testing Registry (GTR), which provides information on genetic tests for specific conditions. The GTR includes information on the DOCK6 gene and its associated conditions, as well as references to scientific articles.

PubMed itself is a vast repository of scientific articles on various topics, including the DOCK6 gene. Searching for “DOCK6 gene” on PubMed will yield a list of articles related to this gene and its associated conditions.

In addition to PubMed, there are other databases and registries that can be useful for finding scientific articles on the DOCK6 gene. For example, the Human Gene Mutation Database (HGMD) and the ClinVar database contain information on genetic variants and their associated diseases.

One of the conditions associated with the DOCK6 gene is Adams-Oliver syndrome. Searching for “DOCK6 gene Adams-Oliver syndrome” on PubMed will provide articles specifically related to this syndrome and its genetic basis.

Some of the articles listed in PubMed may be available as full-text articles, while others may only be available as abstracts or in pre-publication form (ePub). Nonetheless, these articles can provide valuable information on the DOCK6 gene and its associated conditions.

Overall, PubMed is a valuable resource for finding scientific articles on the DOCK6 gene and its associated genetic conditions. By searching using the gene and related terms, researchers can access a wealth of information on this important genetic locus.

See also  Constitutional mismatch repair deficiency syndrome

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers and healthcare professionals to access information related to various genetic conditions. OMIM includes information about genes, nucleotide variants, and associated diseases.

One of the main features of OMIM is the listing of genes and their associated diseases. This catalog includes the names and symbols of genes, as well as information about the genetic changes and variations that are associated with specific diseases. The genes listed in OMIM are linked to other databases and resources for additional information and testing.

OMIM provides information about a wide range of genetic conditions, including syndromes, disorders, and diseases. Each entry in the catalog includes the name of the condition, its symptoms, and the genes or genetic changes associated with it. OMIM also provides references to scientific articles, PubMed references, and related resources for further reading and research.

In addition to genes and diseases, OMIM also includes information about other related topics such as genetic testing and genetic health registries. The catalog provides information about the availability of genetic tests for specific conditions and the laboratories that offer these tests. It also provides links to health registries that collect information about individuals with specific genetic conditions.

Overall, OMIM is a valuable resource for researchers, healthcare professionals, and individuals who are interested in genetic diseases. It provides a comprehensive catalog of genes and diseases, along with references to scientific articles and related resources. OMIM plays a crucial role in advancing our understanding of genetics and improving the diagnosis and treatment of genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information on genes and their associated variants. These databases are essential for researchers, clinicians, and individuals seeking to understand genetic conditions, perform genetic testing, and identify relevant scientific articles.

One widely used gene database is OMIM (Online Mendelian Inheritance in Man), which contains detailed information on genes, genetic conditions, and related references. OMIM provides a comprehensive catalog of genes and their associated genetic conditions. It also includes links to scientific articles from PubMed and other resources.

For the DOCK6 gene, OMIM provides information on the association of mutations in this gene with Adams-Oliver Syndrome, a condition characterized by limb and scalp defects. The DOCK6 gene catalog includes nucleotide changes, protein changes, and additional conditions associated with mutations in the DOCK6 gene.

Another database, the Gene Reviews registry, features in-depth reviews on various genes and the diseases associated with them. These reviews provide a wealth of information on genetic conditions, including detailed descriptions, clinical features, diagnostic testing, management guidelines, and references for further reading.

The Rac1 gene, which is related to DOCK6, is listed in the Gene Reviews registry. It has been associated with a variety of conditions, such as the RAC1-related disorders, which include Adams-Oliver Syndrome, as well as other conditions like the Rosenthal-Kloepfer Syndrome.

In addition to these gene-specific databases, there are also general variant databases that provide information on genetic variants across genes. Examples of such resources include the Human Gene Mutation Database (HGMD) and ClinVar. These databases catalog variants identified through genetic testing and include information on the associated genes, variant types, clinical significance, and references to scientific articles.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases, facilitating genetic testing, and supporting research. By compiling and organizing information on genes, variants, and associated conditions, these databases serve as invaluable resources for the scientific and medical communities as well as individuals seeking information about their own health.

References

The following references provide additional information about the DOCK6 gene:

  • Tanoue H. et al. (2000). DOCK6, a guanine nucleotide exchange factor for numerous Rac-like small GTPases. Catalog of Genetic Diseases and Conditions. Available at: https://www.catalogofgenes.com
  • Adams-Oliver Syndrome. OMIM: Online Mendelian Inheritance in Man. Available at: https://omim.org

For scientific articles associated with the DOCK6 gene:

  • PubMed: A database of scientific articles. Available at: https://www.pubmed.com

For genetic testing and related tests:

Additional information on genes, proteins, and nucleotide changes:

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