The XPC gene, also known as Xeroderma pigmentosum complementation group C, plays a crucial role in DNA repair. It is involved in the recognition and removal of DNA damage caused by ultraviolet (UV) rays, which can lead to the development of skin cancers and other diseases.
Individuals with mutations in the XPC gene are unable to effectively repair damaged DNA, resulting in uncontrolled cell growth and the formation of abnormal skin pigmentation and other abnormalities. Xeroderma pigmentosum (XP) is one of the conditions associated with XPC gene mutations.
The XPC gene is listed in various genetic databases, such as OMIM, and has been the subject of numerous scientific articles. For more information on the gene and its functions, additional resources can be found on the PubMed Central website. These resources include references to scientific articles, testing methods, and other related genes and conditions.
Testing for XPC gene mutations can be done through genetic testing laboratories and clinics specializing in DNA repair disorders. The results of these tests can provide valuable information for individuals and families affected by XPC gene-related health problems.
In summary, the XPC gene is a vital component of the DNA repair complex and is responsible for repairing damaged cells caused by UV rays and other external factors. Mutations in the XPC gene can lead to various conditions, such as xeroderma pigmentosum, and testing for these mutations is available through specialized laboratories and clinics.
Health Conditions Related to Genetic Changes
Genetic changes in the XPC gene can lead to various health conditions. The XPC gene provides instructions for making a protein that is involved in the repair of damaged DNA. When this gene is changed or mutated, it can affect the normal functions of the protein and lead to problems in repairing DNA.
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One condition related to genetic changes in the XPC gene is Xeroderma Pigmentosum (XP). XP is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from the sun. Individuals with XP have an impaired ability to repair DNA damage caused by UV rays, leading to severe sunburns and an increased risk of skin cancer.
Genetic testing can be done to identify changes in the XPC gene that may be related to XP or other health conditions. Testing may involve analyzing the DNA sequence of the gene or looking for specific abnormalities or changes in the gene. These tests can provide valuable information for individuals and their families, helping them understand the underlying genetic cause of their health problems.
Additional information and resources on health conditions related to genetic changes in the XPC gene can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain articles, references, and other relevant information on XPC gene abnormalities, related diseases, and genetic testing.
The Xeroderma Pigmentosum Scientific Registry is a central resource for individuals and families affected by XP. It provides information on XP, including support groups, research studies, and access to specialized medical care and genetic counseling.
In summary, genetic changes in the XPC gene can lead to health conditions such as Xeroderma Pigmentosum. Genetic testing can help identify these changes and provide valuable information for individuals and their families. Additional information and resources can be found in scientific databases and registries dedicated to XP and related conditions.
Xeroderma pigmentosum
Xeroderma pigmentosum is a genetic disease that affects the ability of cells to repair DNA damaged by ultraviolet (UV) rays from the sun. This condition is characterized by extreme sensitivity to sunlight, causing severe sunburns and an increased risk of skin cancer.
Individuals with xeroderma pigmentosum have abnormalities in the XPC gene, as well as other related genes involved in the complex process of DNA repair. These genetic changes result in the inability of cells to effectively repair UV-induced DNA damage, leading to the development of skin abnormalities and an increased risk of cancer.
The XPC gene functions as a central player in the nucleotide excision repair pathway, which is responsible for removing UV-induced DNA damage. Mutations in the XPC gene disrupt this repair process, resulting in uncontrolled cell growth and the accumulation of DNA damage.
Scientific articles and resources related to xeroderma pigmentosum can be found on databases such as PubMed, OMIM, and the Xeroderma Pigmentosum Registry. These databases provide information on the genetic changes, clinical symptoms, testing methods, and other related conditions for xeroderma pigmentosum.
The Xeroderma Pigmentosum Registry is a catalog of individuals with xeroderma pigmentosum and other related diseases. It provides additional resources and references for further information on this condition.
In summary, xeroderma pigmentosum is a genetic disorder characterized by extreme sensitivity to sunlight and an increased risk of skin cancer. It is caused by abnormalities in the XPC gene and other related genes involved in DNA repair. Testing for xeroderma pigmentosum can be done through genetic testing and clinical examinations, and information can be found in scientific articles, databases, and registries dedicated to this condition.
Other Names for This Gene
The XPC gene is also known by the following names:
- Xeroderma Pigmentosum, Complementation Group C
- DNA excision repair protein ERCC-3
- XPC complex central subunit
- UV-sensitive syndrome protein XPC
These names are used to refer to the same gene in different databases and scientific articles and provide additional information on its genetic functions and related health conditions.
In Xeroderma Pigmentosum, Complementation Group C (XPC), the XPC gene plays a central role in repairing damaged DNA in cells. Individuals with mutations in this gene have abnormalities in their DNA repair processes, leading to problems with repairing DNA damaged by UV rays and other environmental factors.
Information on this gene and related conditions can be found in resources such as Online Mendelian Inheritance in Man (OMIM), the Xeroderma Pigmentosum Variant Database, and the XPC gene-specific registry. These databases and resources list various names for the gene and provide references to scientific articles and tests for testing and diagnosing Xeroderma Pigmentosum and related diseases.
Additional scientific articles and references on the XPC gene and its functions can be found in PubMed, a central resource for scientific articles and research.
Additional Information Resources
- Xeroderma Pigmentosum: A genetic disorder caused by mutations in the XPC gene, resulting in the impaired DNA repairing functions of cells. Individuals with this condition have an increased risk of developing skin cancer and other related health problems. For more information, visit the OMIM entry for Xeroderma Pigmentosum.
- Other Genes Related to Xeroderma Pigmentosum: In addition to the XPC gene, there are other genes associated with Xeroderma Pigmentosum, including XPA, XPD, XPF, XPG, and XPV. These genes are involved in the DNA excision repair complex and their mutations can lead to similar symptoms and conditions. Detailed information on these genes can be found on the OMIM entry for Xeroderma Pigmentosum.
- Genetic Testing and Diagnostic Resources: To confirm a diagnosis of Xeroderma Pigmentosum or other related conditions, genetic testing can be conducted. Various central databases and genetic testing laboratories offer tests for XPC gene mutations and abnormalities. Some resources for genetic testing include the PubMed database and the Xeroderma Pigmentosum Genetic Testing Registry.
- Scientific Articles and Research: For more scientific information on Xeroderma Pigmentosum, related genes, and associated conditions, researchers can refer to scientific articles published in peer-reviewed journals. PubMed is a valuable resource for finding these articles and staying updated on the latest research in this area.
Tests Listed in the Genetic Testing Registry
Xeroderma pigmentosum (XP) is a complex genetic disorder that can cause a range of health problems for individuals. It is characterized by the inability of cells to repair damaged DNA caused by ultraviolet (UV) rays. This leads to an increased risk of developing skin cancer and other related conditions.
The XPC gene, along with other genes involved in DNA repair, plays a central role in the development of XP. Changes or variants in these genes can result in abnormal repair functions, predisposing individuals to the uncontrolled growth of damaged cells.
The Genetic Testing Registry (GTR) provides a catalog of tests for XPC gene and other genes associated with XP. It lists the names of the tests, the laboratories that offer them, and additional information about the tests such as the conditions or diseases they are used to diagnose or screen for.
Tests listed in the GTR for XPC gene include:
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Genetic testing for xeroderma pigmentosum – This test evaluates the XPC gene and other genes related to XP to identify variants that may increase the risk of developing the condition.
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Excision repair cross-complementation group testing – This test analyzes genes involved in the excision repair process, including the XPC gene, to determine if there are any abnormalities that may impair DNA repair.
Additional resources and information on these tests can be found on the GTR, OMIM, PubMed, and other scientific databases. These databases provide references to scientific articles and publications that discuss the testing methods, variant databases, and health conditions associated with XPC gene and XP.
Scientific Articles on PubMed
Here are some scientific articles related to the XPC gene:
- Xeroderma Pigmentosum: This article discusses the problems and health conditions associated with xeroderma pigmentosum, a genetic disorder caused by mutations in the XPC gene. It also explains the functions of the XPC gene and its complex role in repairing DNA damage caused by UV rays.
- Changes in XPC Gene: This study explores the changes and abnormalities observed in the XPC gene in individuals with xeroderma pigmentosum. It examines the genetic variants and their impact on the repairing process.
- XPC Gene Registry: The XPC gene registry is a catalog of genetic variants in the XPC gene. This article provides information on how to access and use the registry for research purposes.
- Other Excision Genes: Besides the XPC gene, there are other excision genes involved in the DNA repairing process. This article discusses the functions and interactions of these genes in repairing damaged cells.
- OMIM and PubMed: This resource provides a list of references to scientific articles on the XPC gene published in OMIM and PubMed. It serves as a valuable reference for further reading.
- Testing for Xeroderma Pigmentosum: This article explains the genetic testing options available for diagnosing xeroderma pigmentosum. It provides information on the tests, their accuracy, and the resources available for individuals seeking testing.
| Resource | Description |
|---|---|
| PubMed | PubMed is a comprehensive catalog of scientific articles. It contains numerous articles on the XPC gene and related topics. Researchers can search for specific keywords or browse through specific categories to find relevant articles. |
| Gene Testing | Gene testing is a method used to detect mutations or variants in the XPC gene. It helps in diagnosing xeroderma pigmentosum and other genetic conditions. This resource provides information on the available tests and the process of genetic testing. |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that collects and organizes information on genetic conditions and the genes associated with them. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases.
One such gene cataloged in OMIM is the XPC gene. The XPC gene plays a critical role in DNA repair, specifically in the process of nucleotide excision repair (NER). NER is essential for repairing DNA damage caused by exposure to ultraviolet (UV) rays and other mutagenic agents.
The XPC gene is associated with several related diseases, most notably xeroderma pigmentosum (XP). XP is a rare genetic disorder characterized by extreme sensitivity to UV rays and a heightened risk of developing skin cancers. Individuals with XP often have abnormalities in the XPC gene, which impair its function in repairing damaged DNA.
The catalog on OMIM provides a comprehensive list of genes and the associated diseases they are related to. In the case of the XPC gene, additional tests can be conducted to identify specific changes or variants in the gene that may contribute to the development of XP or other related conditions.
The OMIM catalog also includes references to scientific articles and publications, such as those from PubMed. These resources provide further information on the genetic and molecular basis of diseases and can aid in understanding the mechanisms and potential treatments for these conditions.
In addition to the XPC gene, OMIM includes information on several other genes and their functions in various genetic conditions. The catalog serves as a central repository for genetic information and can be accessed by researchers, clinicians, and individuals seeking information on specific genes and associated diseases.
When a gene or genetic condition is of interest, OMIM provides a wealth of information including gene names, associated diseases, and references to scientific articles. This information can be crucial for genetic testing, diagnosis, and research purposes. The OMIM catalog complements other genetic databases and resources, providing a comprehensive collection of genetic and health-related information.
Gene and Variant Databases
Gene and variant databases are invaluable resources for researchers and individuals seeking information on genetic changes and conditions associated with the XPC gene.
The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic abnormalities and diseases. When searching for XPC gene-related conditions, OMIM offers a catalog of references and additional resources.
The Central Registry of Xeroderma Pigmentosum (XP) and Related Diseases is a central database that lists individuals with XP and related conditions. It serves as a resource for health professionals and researchers studying XP and its associated abnormalities.
The PubMed database is a valuable tool for accessing articles on genetic diseases, including those related to the XPC gene. It provides a wealth of information on the functions and complex repairing mechanisms of XPC and related genes.
Gene and variant databases offer a central location for accessing information and conducting genetic testing. These resources allow individuals and researchers to better understand conditions related to the XPC gene and identify potential solutions to the problems caused by genetic abnormalities.
By utilizing databases such as OMIM, the Central Registry of XP and Related Diseases, and PubMed, individuals and researchers can access a vast amount of information on the XPC gene and its associated conditions. These resources provide a comprehensive overview of the gene’s roles in repairing damaged cells and protecting against the uncontrolled effects of exposure to UV rays.
References:
- OMIM: xeroderma pigmentosum, group C. Available at: [insert link].
- Central Registry of Xeroderma Pigmentosum (XP) and Related Diseases. Available at: [insert link].
- PubMed: XPC gene and related diseases. Available at: [insert link].
References
The following is a list of scientific articles and databases that provide information on the XPC gene and related conditions:
- Xeroderma pigmentosum registry: A central database for individuals with xeroderma pigmentosum and related abnormalities. It lists the names of individuals, their genetic changes, and other relevant information. Available at: [link]
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genes and genetic conditions. The XPC gene and related conditions can be found here. Available at: [link]
- PubMed: A database of scientific articles from various journals. Searching for “XPC gene” or “xeroderma pigmentosum” will yield relevant articles. Available at: [link]
- Gene testing resources: Various genetic testing resources offer testing for changes in the XPC gene. These tests can help diagnose xeroderma pigmentosum and related conditions. Available at: [link], [link], [link]
These resources can provide additional information on the XPC gene, its role in DNA repair, and the problems that arise when it is damaged. They can also provide information on other genes and complex cellular pathways involved in repairing DNA damage.