The CDC6 gene is a genetic variant that encodes a protein involved in the regulation of cell division. This gene is also known as the Meier-Gorlin syndrome gene, as mutations in CDC6 have been linked to this condition. The Meier-Gorlin syndrome is a rare genetic disorder characterized by a reduction in the size of the ears, changes in the structure of the mouth, and other related conditions.
Testing for mutations in the CDC6 gene can be done through various scientific tests, such as DNA sequencing or gene expression analysis. Additional information on this gene and its associated disorders can be found in various databases, including the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR).
PubMed is also a valuable resource for finding scientific articles and studies on the CDC6 gene. It provides a catalog of publications related to this gene and its role in various diseases and conditions. Researchers and healthcare professionals can access these articles to gather more information and stay updated on the latest research in the field.
The CDC6 gene plays a crucial role in the regulation of cell division, and any changes or mutations in this gene can lead to abnormal cell growth and development. Understanding the genetic factors involved in diseases and conditions is essential for effective diagnosis and treatment.
In conclusion, the CDC6 gene is a key player in cell division regulation and is associated with the Meier-Gorlin syndrome and other related conditions. Testing for mutations in this gene can provide important information for healthcare professionals and researchers. By studying the CDC6 gene and its variants, scientists can gain a better understanding of genetic diseases and contribute to the development of targeted therapies.
Health Conditions Related to Genetic Changes
Genetic changes can have a significant impact on an individual’s health. These changes, which can be inherited or occur spontaneously, can lead to various health conditions and syndromes.
Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.
One gene that is particularly relevant to health conditions related to genetic changes is the CDC6 gene. Mutations in this gene have been associated with Meier-Gorlin syndrome, a rare genetic disorder characterized by small stature, small ears, and skeletal abnormalities.
Health conditions related to genetic changes can also be caused by alterations in other genes. The National Institutes of Health’s Genetics Home Reference and the Online Mendelian Inheritance in Man (OMIM) database are valuable resources for information on genetic conditions and associated genes.
In addition to these resources, scientific articles published on PubMed provide further information on specific genetic changes and their relationship to health conditions. These articles can be searched using keywords such as the gene name, specific condition or syndrome, or genetic variant.
Testing for genetic changes is an important tool in diagnosing and managing individuals with health conditions related to genetic changes. There are several types of tests available, including genetic sequencing and protein reduction tests, which can help identify specific genetic changes.
The cell and syndrome registries listed in the CDC6 gene’s entry on the Cell Ontology and Gene Ontology provide additional resources for accessing information on health conditions related to genetic changes. These registries, as well as genetic testing laboratories, can assist healthcare providers in diagnosing and managing individuals with genetic conditions.
Meier-Gorlin syndrome
Meier-Gorlin syndrome is a rare genetic condition which is related to mutations in the CDC6 gene. This gene encodes a protein involved in the regulation of the cell cycle. The syndrome is characterized by a reduction in the size of the ears, along with several other physical abnormalities.
Additional information about Meier-Gorlin syndrome can be found in the OMIM database, which provides detailed information on genetic diseases. The OMIM entry for Meier-Gorlin syndrome includes information on the genetic changes associated with the condition, as well as references to scientific articles and other resources for further reading.
Diagnostic tests for Meier-Gorlin syndrome are listed in the Genetic Testing Registry (GTR), which includes information on a wide range of genetic tests. These tests can help confirm a diagnosis and provide valuable information for healthcare professionals and individuals affected by the syndrome.
The CDC6 gene is also listed in various other genetic databases, such as the Catalog of Somatic Mutations in Cancer (COSMIC) and the Human Gene Mutation Database (HGMD). These databases provide information on genetic mutations in a variety of genes and their association with different diseases and conditions.
For more information on Meier-Gorlin syndrome and related conditions, pubmed can be a valuable resource. PubMed provides access to a vast collection of scientific articles and research papers, which can help researchers and healthcare professionals stay up-to-date on the latest developments in the field.
| Resource | Description |
|---|---|
| OMIM | Provides detailed information on genetic diseases |
| Genetic Testing Registry (GTR) | Lists diagnostic tests for Meier-Gorlin syndrome |
| Catalog of Somatic Mutations in Cancer (COSMIC) | Provides information on genetic mutations in various genes |
| Human Gene Mutation Database (HGMD) | Contains information on genetic mutations and their association with diseases |
| PubMed | Offers access to a vast collection of scientific articles and research papers |
Other Names for This Gene
The CDC6 gene is also known by other names in various databases and scientific articles. These names include:
- – Cell division cycle 6 homolog (S. cerevisiae)
- – Meier-Gorlin syndrome (ear-patella-short stature syndrome)
- – CDC6 replication initiation factor
- – CDC6 minichromosome maintenance deficient 6 (S. cerevisiae)
- – CDC6 related syndromes
These alternative names reflect different aspects of the gene’s function, genetic conditions it is associated with, and its role in cell division and replication. The CDC6 gene has been listed under these names in genetic databases, such as OMIM (Online Mendelian Inheritance in Man), Pubmed, and other scientific resources.
These names are used interchangeably in the scientific literature, depending on the specific context and conditions being studied. The CDC6 gene has been linked to Meier-Gorlin syndrome, a rare genetic condition characterized by short stature, small ears, and patella abnormalities.
In addition to Meier-Gorlin syndrome, variants of the CDC6 gene have also been associated with other related diseases and conditions. Testing for mutations in this gene can provide valuable information for the diagnosis and management of these conditions. Reduction or absence of the CDC6 protein from cells can be indicative of defects in DNA replication and cell division.
References:
- Bicknell LS, Bongers EMHF, Leitch A, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43(4):356-359.
- OMIM entry for Meier-Gorlin syndrome (ear-patella-short stature syndrome). (Accessed April 2022)
- Additional references and information can be found in scientific articles and genetic databases.
Additional Information Resources
- Genetic Testing Registry (GTR): The GTR is a voluntary registry that provides access to information about genetic tests for genetic diseases. It provides information about the CDC6 gene, including the names of the tests and laboratories that perform them.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides information about the CDC6 gene, including genetic variants and associated conditions.
- PubMed: PubMed is a database of scientific articles. It contains articles on the CDC6 gene, its role in cell regulation, and its association with Meier-Gorlin syndrome.
- Genes and Disease: Genes and Disease is a collection of articles that discuss the relationship between genetic variation and diseases. It includes information on the CDC6 gene and its role in various conditions.
- Cell Changes and Cancer: This article provides information on the role of the CDC6 gene in cell division and its implication in cancer development.
- Reduction of CDC6 protein levels: This article discusses the reduction of CDC6 protein levels as a potential therapeutic strategy for certain diseases.
- Catalog of Genetic Variants: The Catalog of Genetic Variants is a curated database of genetic variations and their association with diseases. It includes information on genetic variants in the CDC6 gene and their impact on health.
- Meier-Gorlin Syndrome: Meier-Gorlin syndrome is a rare genetic condition characterized by short stature, small ears, and underdeveloped or absent kneecaps. This article discusses the role of the CDC6 gene in Meier-Gorlin syndrome.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a resource for information on genetic tests for the CDC6 gene. The CDC6 gene is involved in the process of cell division and plays a crucial role in the regulation of DNA replication. Mutations in this gene can lead to Meier-Gorlin syndrome, a condition characterized by small ears and reduced height.
The GTR lists various genetic tests that can be used to identify mutations in the CDC6 gene. These tests can help in the diagnosis, prognosis, and management of Meier-Gorlin syndrome and related conditions. The GTR also provides additional resources, such as scientific articles, references, and databases, to further explore genetic information related to the CDC6 gene.
Some of the tests listed in the GTR include:
- Sequence analysis of the CDC6 gene
- Deletion/duplication analysis of the CDC6 gene
- Testing for other genes associated with Meier-Gorlin syndrome
These tests can help identify specific changes or mutations in the CDC6 gene that may be linked to Meier-Gorlin syndrome or other related conditions. By analyzing the genetic information and variants in the CDC6 gene, healthcare professionals can better understand the underlying causes of these diseases.
In addition to the GTR, other resources such as PubMed and OMIM can provide further information on the CDC6 gene and Meier-Gorlin syndrome. PubMed offers scientific articles and research publications related to the CDC6 gene and its role in various conditions. OMIM provides information on specific genetic diseases, including Meier-Gorlin syndrome, and includes detailed descriptions of related genes and mutations.
| Resource | Description |
|---|---|
| Genetic Testing Registry (GTR) | A catalog of genetic tests and related information |
| PubMed | A database of scientific articles and research publications |
| OMIM | A comprehensive resource for genetic information on diseases and genes |
By utilizing these resources and genetic testing, healthcare professionals can gain valuable insights into the CDC6 gene and its role in Meier-Gorlin syndrome and related conditions. This information can help in the diagnosis, management, and treatment of individuals affected by these genetic disorders.
Scientific Articles on PubMed
When researching the CDC6 gene and related topics, it is important to gather information from scientific articles available on PubMed. PubMed is a comprehensive database that provides access to a vast collection of scientific literature on various medical and genetic topics. By searching for relevant articles on PubMed, researchers can find valuable information related to the CDC6 gene and its association with different conditions.
Genetic testing for the CDC6 gene can help in the diagnosis and identification of certain conditions, such as Meier-Gorlin syndrome. By analyzing the genetic makeup of an individual, tests can determine if there are any changes or mutations in the CDC6 gene that may contribute to the development of this syndrome or other related conditions. These tests rely on the resources and databases available on PubMed to gather information on the CDC6 gene and its role in different diseases.
The CDC6 gene is a crucial component in the process of DNA replication and cell division. Mutations or variations in this gene can lead to a reduction in the production of the CDC6 protein, which can result in various health conditions. PubMed provides a registry of scientific articles that have studied the CDC6 gene in detail and have identified its links to different diseases and syndromes.
For further information on the CDC6 gene and its association with various conditions, PubMed offers a wide range of scientific articles that can be referenced. These articles provide insights into the genetic changes, protein variations, and testing methods related to the CDC6 gene. Additionally, PubMed lists other related genes and conditions that may be associated with the CDC6 gene in its catalog of scientific articles.
By using PubMed as a resource, researchers can access scientific articles that provide valuable information on the CDC6 gene and its role in different conditions. These articles are referenced and cited in the scientific community, ensuring that the information obtained from PubMed is reliable and up-to-date. Utilizing PubMed can aid in further understanding the CDC6 gene and its implications for human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases (OMIM) is a comprehensive registry that provides information about over 24,000 genes and their associated genetic conditions. It serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic health.
OMIM provides a wide range of information on genes and genetic conditions, including genetic changes, related syndromes, and protein mutations. It offers a robust collection of scientific articles, references, and additional resources for further exploration.
For each gene listed in the catalog, OMIM provides detailed information on its function, associated genetic conditions, and variants. This information is organized in a clear and accessible manner, making it easier for researchers and healthcare professionals to find relevant data.
In addition to information on genes and genetic conditions, OMIM also provides resources for genetic testing. It offers a comprehensive list of tests available for different conditions, along with information on testing laboratories and recommended testing protocols.
The catalog also includes databases and other resources that can be helpful in the study of genetics. These resources cover a wide range of topics, including gene expression, cell function, and the reduction of genes to proteins. They provide researchers with valuable tools to further their understanding of genetics and related fields.
OMIM is constantly updated to reflect the latest research and discoveries in the field of genetics. This ensures that users have access to the most up-to-date and accurate information available.
Overall, the Catalog of Genes and Diseases from OMIM is an invaluable tool for anyone interested in genetics and its implications for health. Its comprehensive collection of genes, diseases, tests, and resources makes it an essential resource for researchers, healthcare professionals, and individuals seeking a better understanding of genetic conditions and their underlying causes.
Gene and Variant Databases
The CDC6 gene is associated with various genetic conditions, including Meier-Gorlin syndrome, which affects the growth and development of multiple body parts. To gather information about the gene and its related variants, several databases and resources are available.
- PubMed: A comprehensive database of scientific articles, PubMed contains information on genetic changes, mutations, and their impact on diseases. It is a valuable resource for researchers and healthcare professionals seeking detailed information about the CDC6 gene.
- Gene and Variant Databases: These databases, such as the CDC6 Gene/Variant Database, provide curated information on the CDC6 gene and its variants. They include details about the protein encoded by the gene, genetic changes associated with diseases, and references to relevant scientific articles.
- Registry of Genetic Tests: This registry lists tests available for the CDC6 gene and related genetic conditions. It provides information about test availability, methodologies, and laboratories offering the tests.
- Additional Resources: Other resources, such as the Cell Atlas and the Human Phenotype Ontology, offer further insights into the role of the CDC6 gene in various cells and conditions. These resources can help researchers and healthcare professionals understand the broader implications of CDC6 gene mutations.
By utilizing these databases and resources, researchers and healthcare professionals can access reliable information on the CDC6 gene, its variants, and their implications for genetic conditions.
References
For tests on the CDC6 gene, you can consult the following resources:
- Registry of Hereditary Cancer Syndromes and Conditions, which provides information on genetic tests for various syndromes and conditions (source: Pubmed).
- Catalog of Genetic Tests and Laboratories, which lists laboratories offering testing for the CDC6 gene (source: Pubmed).
- Additional scientific articles on the CDC6 gene and related diseases can be found on the Pubmed database.
- OMIM (Online Mendelian Inheritance in Man), a database that provides information on genetic conditions and genes (source: OMIM).
If you would like more information on testing for CDC6 gene changes and variants, it is recommended to consult with a healthcare professional or genetic counselor. They can provide you with the most relevant and up-to-date information based on individual circumstances.