The ORC4 gene is a catalog of origins that are used for DNA replication. The origins are specific sequences where replication begins. The ORC4 gene is responsible for the recognition and binding of these origins during the initiation of DNA replication.
The ORC4 gene and its protein products have been studied extensively in scientific literature. Mutations or changes in this gene can lead to genetic disorders and conditions. One condition associated with the ORC4 gene is Meier-Gorlin syndrome, a rare disorder characterized by short stature and small ears. The ORC4 gene is one of several genes implicated in the development of this syndrome.
Tests for the ORC4 gene and related genes can be performed to identify mutations or variants that may cause genetic conditions. These tests can be ordered by healthcare providers who suspect a genetic component to a patient’s condition. Additional information on the ORC4 gene and related tests can be found in databases such as OMIM and PubMed.
In addition to testing, there are also resources available for patients and their families to learn more about the ORC4 gene and related conditions. Genetic registries, health websites, and scientific articles can provide valuable information and references on this gene and its associated conditions.
In summary, the ORC4 gene plays a crucial role in DNA replication, and changes in this gene can lead to genetic conditions such as Meier-Gorlin syndrome. Tests and resources are available for the recognition and reduction of these conditions, providing important information for patients and healthcare providers.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions. There are numerous genes that have been identified and cataloged, along with the associated health conditions. These genes have been extensively studied, and a wealth of information can be found in scientific articles, tests, and databases.
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One of the popular resources for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. This database lists and provides detailed information about genes and their related health conditions. It also references scientific articles and tests related to these genes.
Another resource is PubMed, which is a database of scientific articles. PubMed contains a vast collection of articles on various genes and their associated health conditions. It is a valuable source for researchers and healthcare professionals looking for the most up-to-date information on gene-related diseases.
In addition to OMIM and PubMed, there are other databases and registries available that provide information on genetic changes and their related health conditions. These resources include the GeneTests database, which offers information on genetic tests and the genes being tested.
Some examples of health conditions related to genetic changes include Meier-Gorlin syndrome, which is caused by mutations in the ORC4 gene. This syndrome is characterized by short stature, small ears, and other physical abnormalities. The gene responsible for this condition was identified and studied extensively, leading to better recognition and understanding of the disease.
Overall, genetic changes can have a significant impact on health. Through scientific research, testing, and databases, healthcare professionals and researchers can better understand these genetic changes and the associated health conditions. This knowledge can lead to improved diagnosis, treatment, and prevention strategies for various diseases.
Meier-Gorlin syndrome
Meier-Gorlin syndrome is a rare genetic condition caused by mutations in the ORC1, ORC4, ORC6, CDT1, or CDC6 genes. It is characterized by a short stature, small ears, absent or underdeveloped kneecaps, and other physical abnormalities.
Meier-Gorlin syndrome is one of the conditions related to the reduction of genes and gene mutations in proteins that are part of the origin recognition complex (ORC). These proteins are involved in the initiation of DNA replication during cell division. Mutations in these genes can disrupt the normal replication process and lead to the development of Meier-Gorlin syndrome.
Tests for Meier-Gorlin syndrome can involve genetic testing to identify changes or variants in the ORC1, ORC4, ORC6, CDT1, or CDC6 genes. These tests can help in the diagnosis of the condition and provide information about its genetic origin.
There are several resources and databases available that provide additional information on Meier-Gorlin syndrome. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other health-related databases and registries can be used to find articles, publications, and other sources of information on this condition.
Recognition and testing for Meier-Gorlin syndrome is important for early diagnosis and intervention. It can help in providing appropriate medical care and support to individuals affected by this condition.
References:
- Meier-Gorlin Syndrome. (2021). Retrieved from OMIM database: [insert link]
- Meier-Gorlin Syndrome. (2021). Retrieved from PubMed database: [insert link]
- Other resources and databases: [list other relevant resources and databases]
Other Names for This Gene
The ORC4 gene is also known by the following names:
- Origin Recognition Complex, Subunit 4
- Meier-Gorlin Syndrome 3
- OGRC4
- Orc4A
- Orc4B
These names are used in scientific articles, databases, and resources related to genetic health. The ORC4 gene has been discovered to play a role in the development and functioning of cells. Mutations or changes in this gene have been associated with Meier-Gorlin syndrome, a rare genetic condition characterized by short stature, small ears, and other abnormalities. Testing for mutations in the ORC4 gene can help in the diagnosis of this syndrome. The ORC4 gene is listed in various genetic databases, such as PubMed, OMIM, and the ORC registry. Additional information about this gene and its variants can be found in these resources and references.
Additional Information Resources
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and the genes associated with them. It includes a detailed description and references on the ORC4 gene and related syndromes.
- Genetic Testing Registry: This resource provides information about genetic tests for ORC4 gene mutations. It includes the names of the tests, their purpose, and the laboratories that offer them. It also provides information on the clinical validity and utility of the tests.
- PubMed: PubMed is a database of scientific articles and research papers. It can be used to find studies and publications related to ORC4 gene mutations, the Meier-Gorlin Syndrome, and other conditions associated with this gene.
- ClinVar: ClinVar is a database that collects and provides information about genetic variations and their relationship to diseases. It includes information about the ORC4 gene variants and their association with different conditions.
- Human Gene Mutation Database (HGMD): HGMD is a comprehensive catalog of human gene mutations and their disease associations. It provides information on ORC4 gene mutations and their impact on health and disease.
- Protein Data Bank (PDB): PDB is a database of three-dimensional structures of proteins. It includes structural information on proteins encoded by the ORC4 gene and their interactions with other proteins.
These resources can help individuals and healthcare professionals understand the genetic basis of Meier-Gorlin Syndrome and related conditions, access testing options, and stay updated on the latest scientific findings.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests provided by various laboratories and clinics. This registry is a valuable resource for individuals seeking information about genetic tests for specific genes or conditions, including the ORC4 gene.
Genetic testing plays a crucial role in identifying and understanding genetic conditions and diseases. Through these tests, healthcare professionals can recognize changes or mutations in genes, proteins, or other genetic resources that may be associated with specific diseases or conditions.
In the case of the ORC4 gene, several tests are listed in the GTR. These tests aim to detect variations or mutations in the ORC4 gene, which is associated with Meier-Gorlin syndrome.
Meier-Gorlin syndrome is a rare genetic disorder characterized by short stature, small ears, and other physical abnormalities. Testing for mutations in the ORC4 gene can provide important diagnostic information for individuals suspected of having this condition.
In addition to the ORC4 gene, the GTR also lists tests for other genes associated with Meier-Gorlin syndrome and related conditions. These tests provide healthcare professionals with valuable information to aid in the recognition and diagnosis of these disorders.
Tests listed in the GTR provide comprehensive information about the genetic origin of diseases or conditions. They include scientific articles, references, and additional resources to support the understanding and interpretation of test results.
Genetic testing can play a significant role in reducing the burden of genetic diseases and conditions. By providing valuable information about the origins and genetic makeup of these disorders, tests listed in the GTR contribute to the improvement of healthcare and the well-being of individuals.
Gene | Test | Origin |
---|---|---|
ORC4 | Meier-Gorlin syndrome | Genetic |
Other related genes | Meier-Gorlin syndrome and related conditions | Genetic |
These tests listed in the Genetic Testing Registry provide essential information for healthcare professionals and individuals interested in genetic testing. By accessing these resources, individuals can gain insights into their genetic health and make informed decisions about their healthcare.
Scientific Articles on PubMed
There are numerous scientific articles available on PubMed related to the ORC4 gene. These articles discuss the changes, origins, and functions of this gene in various conditions and diseases.
One example is the study titled “ORC4 gene mutations in Meier-Gorlin syndrome” which describes the identification of ORC4 gene mutations in patients with Meier-Gorlin syndrome, a rare genetic condition characterized by small stature and other skeletal abnormalities.
In addition to Meier-Gorlin syndrome, the ORC4 gene has also been found to be related to other genetic conditions. The OMIM database lists several diseases and conditions associated with mutations in the ORC4 gene, including microcephalic primordial dwarfism and Roberts syndrome.
Testing for mutations in the ORC4 gene and other related genes can be done through genetic tests. These tests, which include sequencing and recognition of variant proteins, can provide valuable information about the origin of genetic conditions and help in the diagnosis and management of affected individuals.
There are several resources available for genetic testing and information on the ORC4 gene. Databases and registries such as GeneReviews and ClinVar provide comprehensive information on the gene, its mutations, and associated conditions. PubMed also contains a vast collection of scientific articles and references related to the ORC4 gene, which can be accessed by researchers and healthcare professionals.
It is important to note that genetic testing and the use of information from PubMed and other resources should be done in consultation with healthcare professionals. These resources can provide valuable insights into the ORC4 gene and its role in various conditions, but proper interpretation and medical guidance are essential for accurate diagnosis and management of affected individuals.
Catalog of Genes and Diseases from OMIM
In the scientific community, the MEIER-GORLIN syndrome is a condition with origins linked to mutations in the ORC4 gene, which is listed in the OMIM catalog of genes and diseases. These mutations can be identified through testing, and additional changes in other genes may also be recognized as related conditions.
The OMIM catalog provides a comprehensive resource on genetic conditions, with information on the genes and proteins involved, as well as tests and resources for testing. The catalog includes short names and variant names for each gene, allowing for easy identification and searchability. The registry also includes references to scientific articles from PubMed, providing further information on the condition.
For individuals seeking information on the MEIER-GORLIN syndrome or other genetic diseases, the OMIM catalog is a valuable tool. It offers a wealth of information on the genes, tests, and conditions, allowing for better understanding and management of these conditions. The inclusion of references and links to external databases further enhances the usefulness of the OMIM catalog as a resource for genetic health.
Overall, the OMIM catalog serves as a comprehensive and reliable source of information on genetic diseases. Its inclusion of genes, diseases, tests, and references makes it an essential tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions.
Gene and Variant Databases
A crucial component in understanding the ORC4 gene and its variants is the availability of gene and variant databases. These databases serve as a valuable resource for researchers, clinicians, and individuals interested in exploring the genetic basis of this condition.
One such database is the Online Mendelian Inheritance in Man (OMIM) database. It provides comprehensive information on genetic diseases, including Meier-Gorlin syndrome, which is associated with mutations in the ORC4 gene. OMIM offers detailed entries on genes, diseases, and their associated names, as well as references to relevant scientific articles and resources.
Another significant database is the Human Gene Mutation Database (HGMD) that curates information on gene variants and their association with inherited diseases. It serves as a reliable source for identifying pathogenic ORC4 gene mutations and their effects on health.
Additionally, the National Center for Biotechnology Information (NCBI) provides multiple resources for gene and variant information. One such resource is PubMed, a comprehensive database of scientific articles. Searching for “ORC4 gene” or “Meier-Gorlin syndrome” on PubMed can yield further insight into the origins and impact of variants in this gene.
The ORCID registry is another valuable resource that assigns unique identifiers to researchers, allowing for convenient recognition and citation of their work in the field of genetics. Researchers studying the ORC4 gene and Meier-Gorlin syndrome may have their work published and indexed in the registry, making it easier for others in the scientific community to locate and reference their contributions.
Overall, these databases and resources play a crucial role in providing up-to-date and comprehensive information on genetic conditions, genes, and associated variants. They serve as a foundation for further research, genetic testing, and understanding the impact of gene mutations on human health.
References
- OMIM (Online Mendelian Inheritance in Man) database: https://www.omim.org/
- PubMed database: https://pubmed.ncbi.nlm.nih.gov/
- GeneTests database: https://www.ncbi.nlm.nih.gov/gene/
- Health-Related Genetic Testing and its Scientific Recognition: Resources from the National Library of Medicine: https://ghr.nlm.nih.gov/primer/testing/references
- GeneReviews database: https://www.ncbi.nlm.nih.gov/books/NBK1116/
- Meier-Gorlin Syndrome (MGS): GeneReviews database: https://www.ncbi.nlm.nih.gov/books/NBK1440/
Additional articles and references related to genetic testing for diseases caused by mutations in the ORC4 gene can be found in these databases and resources. These sources provide information on the origin, changes, and recognition of genetic conditions linked to ORC4 mutations, such as Meier-Gorlin Syndrome. It is recommended to consult these resources for further information and testing options.