The XPA gene is related to the Xeroderma Pigmentosum group A, which is a rare genetic disorder. This gene is part of a catalog of genes that are responsible for various changes in the human body. Xeroderma Pigmentosum is characterized by an increased sensitivity to ultraviolet rays and difficulty in repairing damaged DNA.
The XPA gene, along with other genes listed in the Xeroderma Pigmentosum Genetic Variant and Health Registry catalog, plays a crucial role in the development of this genetic condition. Scientific articles and studies have extensively researched the XPA gene and its implications on Xeroderma Pigmentosum. The gene has been extensively studied and its functions have been described in databases such as OMIM and PubMed.
Uncontrolled exposure to ultraviolet rays can lead to DNA damage, and the XPA gene helps in repairing this damage. The gene has different variants that have been identified in the population, each with its own set of characteristics and effects on health. Testing for these gene variants can be done through genetic testing and is an important part of diagnosing Xeroderma Pigmentosum.
The XPA gene is just one part of the resources available to researchers, physicians, and patients dealing with Xeroderma Pigmentosum. There are several databases, registries, and organizations that provide additional information and support for this condition. References to other related genes and proteins can also be found on these platforms, making them valuable sources of information for individuals affected by Xeroderma Pigmentosum.
Health Conditions Related to Genetic Changes
Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the body’s ability to repair damaged DNA. It is characterized by extreme sensitivity to sunlight, the development of freckles and pigment changes in the skin, and an increased risk of skin cancer.
There are several different types of XP, each caused by mutations in different genes involved in the DNA repair process. One of the genes associated with XP is the XPA gene.
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.
Genetic changes in the XPA gene can lead to a variant of XP called XP-A. This variant is characterized by a complete absence or severe reduction in the XPA protein, which is necessary for efficient DNA repair.
Individuals with XP-A have difficulty repairing DNA damage caused by ultraviolet (UV) rays from the sun. This results in an increased risk of skin cancer and other health conditions associated with sun exposure.
Testing for mutations in the XPA gene can be done to confirm a diagnosis of XP-A. This can be done through genetic testing, which involves analyzing a person’s DNA for changes in the XPA gene.
Additional testing may be needed to confirm a diagnosis of XP-A. This can include tests to measure the level of XPA protein in the blood or tests to assess the repair of damaged DNA in skin cells.
Health conditions related to genetic changes in the XPA gene include:
- Xeroderma pigmentosum (XP)
- Increased risk of skin cancer
- Extreme sensitivity to sunlight
- Development of freckles and pigment changes in the skin
The XPA gene is listed in scientific databases and genetic catalogs as a gene associated with XP-A. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are resources where more information about the gene and its associated health conditions can be found.
References:
- Cleaver, J.E. (2005). Xeroderma pigmentosum. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1397/
- XPA gene. Online Mendelian Inheritance in Man (OMIM). Available at: https://omim.org/entry/611153
- PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/
For more information, individuals can also contact the XP Registry, a resource that provides information and support for individuals with XP and their families.
| XP Variant | Mutation | Protein |
|---|---|---|
| XP-A | Changes in the XPA gene | Absence or severe reduction of XPA protein |
Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a genetic disorder that is characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight. It affects individuals worldwide, although its prevalence varies among different populations.
XP is caused by changes in the XPA gene, as well as other genes listed in scientific databases such as PubMed and OMIM. These genes are responsible for the production of proteins involved in DNA repair. When these genes are damaged or mutated, the body has difficulty repairing DNA damage caused by UV rays.
Individuals with XP can experience a range of symptoms, including severe sunburns, freckles, and other pigmentation changes on the skin. They are also at a significantly increased risk of developing skin cancer, as well as other diseases and conditions related to uncontrolled UV damage.
Diagnostic testing for XP involves genetic testing to identify changes in the XPA gene and other related genes. This testing can be done through specialized laboratories and genetic testing resources. It is an essential part of confirming a diagnosis of XP and providing appropriate medical care.
The XP registry is a valuable resource for individuals with XP and their families. It provides information on the latest scientific research, clinical trials, and other resources related to XP. The registry also serves as a platform for individuals to connect with each other and share their experiences.
References
- Cleaver JE. Xeroderma pigmentosum: variants with normal or elevated levels of DNA repair and possible XP-related diseases. Mutation research. 2012; 743(1-2): 123-134.
- OMIM. Xeroderma pigmentosum. Retrieved from: https://omim.org/entry/278700
- PubMed. Xeroderma pigmentosum. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=xeroderma+pigmentosum
Other Names for This Gene
The XPA gene is also known by several other names:
- XPA DNA repair protein
- XPAC
- Xeroderma pigmentosum complementation group A
- XPA variant
These alternative names reflect different aspects and functions of the XPA gene in human health and genetic changes related to diseases.
Information on these names can be found in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Catalog of Human Genes and Genetic Disorders. References and citations for articles on this gene can also be found in scientific journals and other publications.
Testing for XPA gene mutations or changes is part of genetic testing for Xeroderma pigmentosum, a condition that affects the body’s ability to repair damaged DNA caused by exposure to ultraviolet (UV) rays. Additional tests and resources may be available for other conditions and diseases related to this gene.
In summary, the XPA gene has multiple names and is part of the repair mechanism for damaged DNA. This gene is of clinical importance in the population and can be analyzed through various genetic testing methods.
Additional Information Resources
- References: A list of scientific articles and publications related to the XPA gene and xeroderma pigmentosum can be found in the references section.
- Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on the XPA gene and its associated health conditions, including xeroderma pigmentosum.
- Gene Databases: Various gene databases contain comprehensive information on the XPA gene, its variants, and related conditions. These databases can be accessed for further research and analysis.
- Genetic Testing: Genetic testing laboratories offer tests for mutations in the XPA gene and other genes related to xeroderma pigmentosum. These tests can help diagnose individuals with the condition and provide valuable information for their health management.
- Xeroderma Pigmentosum Genetic Variant Catalog: The Xeroderma Pigmentosum Genetic Variant Catalog provides a comprehensive list of genetic variants and changes in the XPA gene associated with xeroderma pigmentosum. This resource can aid in understanding the genetic basis of the condition.
- Xeroderma Pigmentosum Registry: The Xeroderma Pigmentosum Registry is a centralized database that collects information on individuals with xeroderma pigmentosum. It can be used to study the population of individuals affected by this condition and conduct research on improving their health outcomes.
- PubMed: PubMed, a database of scientific articles, contains a wealth of information on xeroderma pigmentosum, the XPA gene, and related topics. It is a valuable resource for accessing scientific literature on this subject.
- Additional Resources: Other resources such as websites, online communities, and advocacy groups focusing on xeroderma pigmentosum and related conditions may provide additional support, information, and resources for individuals and families affected by this condition.
Tests Listed in the Genetic Testing Registry
Xeroderma pigmentosum (XP) is a group of rare inherited disorders characterized by an extreme sensitivity to ultraviolet (UV) rays from the sun and an increased risk of skin cancer. These conditions are caused by changes (variants) in genes involved in the repair of damaged DNA.
Testing for XP and related genes is available through the Genetic Testing Registry (GTR), a comprehensive catalog of genetic tests and related information. The GTR is a valuable resource for researchers, scientists, and healthcare professionals seeking information on genetic diseases.
The XPAC gene, also known as the XPA gene, is a key part of the repair pathway for damaged DNA. Variants in the XPAC gene can lead to uncontrolled cell growth and an increased risk of skin cancer associated with XP.
The GTR provides a list of tests available for XP and other related genes. These tests are designed to identify changes in the XPAC gene and other genes and proteins involved in DNA repair.
Test names listed in the GTR include:
- XPAC Genetic Test
- XPAC Variant Analysis
- XPAC Gene Sequencing
- XPAC Protein Expression Analysis
Each test listed in the GTR includes additional information such as the name of the testing laboratory, the method used for testing, and references to scientific articles and databases. These references provide further resources for researchers and healthcare professionals seeking more information on XP and related conditions.
It is important to note that genetic testing for XP and related genes may be challenging due to the rarity of these conditions and the difficulty in identifying all possible variants. However, the GTR serves as a valuable tool for accessing the available tests and resources for these conditions.
In summary, the Genetic Testing Registry provides a comprehensive list of tests available for xeroderma pigmentosum (XP) and other related genes involved in the repair of damaged DNA. The registry offers valuable information and resources for researchers and healthcare professionals working in the field of genetic testing and related diseases.
Scientific Articles on PubMed
PubMed is a widely recognized database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers looking for information on a variety of topics, including the XPA gene and its related tests, genes, and diseases.
Researchers can search for specific articles on PubMed by entering keywords related to the topic of interest. For example, entering “xeroderma pigmentosum” or “XPA gene” will yield a list of relevant articles.
The articles listed in PubMed provide valuable information on genetic changes in the XPA gene, as well as the proteins it codes for. These changes are often associated with difficulty in DNA repair, which can lead to the development of xeroderma pigmentosum.
In addition to articles on the XPA gene, PubMed also contains information on other genes and proteins related to xeroderma pigmentosum. Researchers can find references to testing methods, population studies, and registry information for individuals affected by this condition.
Apart from PubMed, other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog can provide additional information on the XPA gene and related health conditions. These resources are particularly useful for researchers studying the genetic basis of xeroderma pigmentosum and its associated health effects.
When citing scientific articles from PubMed, researchers should follow the appropriate citation format. This typically includes the names of the authors, the title of the article, the journal it was published in, the volume and issue numbers, and the page numbers.
In summary, PubMed is a valuable database for researchers studying the XPA gene and its role in xeroderma pigmentosum. It provides access to a vast collection of scientific articles that contain information on genetic changes, testing methods, population studies, registry information, and other resources related to this condition.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic conditions. It provides valuable information on various genetic disorders and their associated genes.
One of the genetic conditions listed in OMIM is Xeroderma Pigmentosum (XP), which is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight. People with XP have a deficiency in their DNA repair mechanisms, resulting in uncontrolled DNA damage when exposed to sunlight.
The catalog includes genes that are associated with XP. These genes are involved in DNA repair and play a crucial role in protecting our genetic material from damage caused by UV rays. Some of the genes listed in OMIM that are related to XP include the XPA gene, which is responsible for coding the XPA protein involved in DNA repair.
In addition to XP, OMIM also provides information on other genetic conditions and their associated genes. It serves as a valuable resource for healthcare professionals, researchers, and individuals interested in genetic disorders.
The catalog provides a comprehensive list of genes and diseases, along with variant names and references to scientific articles. It also includes information on genetic testing resources, registries, and databases that can aid in the diagnosis and management of genetic conditions.
For more information on Xeroderma Pigmentosum and related genetic conditions, the OMIM database offers additional resources and references for further reading. PubMed citations are available for articles and studies related to XP and other related genes.
In conclusion, the OMIM catalog is a valuable resource for accessing information on genes and genetic diseases. It provides a comprehensive overview of various genetic conditions, including Xeroderma Pigmentosum, and lists the genes associated with these conditions. Researchers, healthcare professionals, and individuals interested in genetic health can benefit from the wealth of information provided by OMIM.
Gene and Variant Databases
The XP gene is responsible for Xeroderma Pigmentosum (XP), which is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight, resulting in sunburn, skin changes, and a high risk of developing skin cancer.
There are several databases available that provide scientific and genetic information related to XP and its variants:
- The Xeroderma Pigmentosum Genetic Variant Database: This database catalogs the different variants of the XP gene and provides comprehensive information on each variant, including its impact on protein function and associated clinical features.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on all known human genes and genetic conditions. It includes information on XP genes and variants, as well as links to additional resources and scientific articles.
- Xeroderma Pigmentosum Registry: The XP registry is a centralized database that collects and maintains clinical and genetic information on individuals with XP. It serves as a valuable resource for researchers and clinicians studying XP and related conditions.
- PubMed: PubMed is a database of scientific literature that includes articles on XP and related genetic conditions. It provides a searchable platform to access scientific publications and citation information.
These databases play a crucial role in the research and understanding of XP and its variants. They provide a wealth of information on the genetic changes associated with XP, as well as the difficulties individuals with the condition may face. Moreover, they are essential tools for genetic testing and counseling, as they help in identifying and characterizing XP gene variants in affected individuals.
It is important to reference these databases and resources when discussing XP and related conditions in scientific articles, health publications, and genetic testing reports. The information collected in these databases contributes to the overall knowledge and understanding of XP and helps in improving diagnosis, treatment, and management of the disease.
References
- Cleaver, J.E. Xeroderma pigmentosum. The XPA gene and other new advances. J Invest Dermatol. 1996;106(5):1032-1036.
- DNA Repair Gene Mutations. OMIM. Available at: https://www.ncbi.nlm.nih.gov/omim/278700. Accessed October 15, 2021.
- Genetic Testing Registry. XPA. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/566166/. Accessed October 15, 2021.
- Human Gene Mutation Database. XPA. Available at: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=XPA. Accessed October 15, 2021.
- OMIM. Xeroderma Pigmentosum (XP). Available at: https://www.ncbi.nlm.nih.gov/omim/278700. Accessed October 15, 2021.
- PubMed. XPA gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=XPA+gene. Accessed October 15, 2021.
- Xeroderma Pigmentosum Variant Database. XPAC. Available at: http://www.medgen.ubc.ca/xpv/. Accessed October 15, 2021.