The CLPP gene is a gene that plays a crucial role in health and disease. It is responsible for encoding the CLPP protein, which is a subunit of the barrel-shaped CLP protease complex. This complex is involved in the degradation of misfolded and damaged proteins. Mutations in the CLPP gene have been associated with a variety of diseases and conditions, including Perrault syndrome and Down syndrome.
Research on the CLPP gene and its related tests has been extensively documented in scientific articles and databases. Many additional resources, such as PubMed and OMIM, provide genetic information on the CLPP gene and its associated conditions. These resources list the names of other genes and proteins that are important for the testing and diagnosis of diseases related to the CLPP gene.
The CLPP gene is of particular interest because of its role in various diseases and conditions. It has been found that changes or mutations in this gene can lead to Perrault syndrome, a rare disorder characterized by hearing loss and ovarian malfunction. Mutations in the CLPP gene have also been found in individuals with Down syndrome.
With the availability of resources like PubMed and other genetic databases, researchers can access a wealth of information on the CLPP gene. This information includes scientific articles, references, and genetic testing recommendations, which are crucial for understanding the role of the CLPP gene in different diseases and conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the CLPP gene have been associated with various health conditions. The CLPP gene encodes the ATP-dependent caseinolytic peptidase proteolytic subunit, which is a subunit of the CLP protease. Mutations in this gene can lead to the development of different syndromes and diseases.
One example of a syndrome related to CLPP gene mutations is Perrault syndrome. Perrault syndrome is a rare genetic disorder characterized by hearing loss in females and reproductive abnormalities in males and females. Mutations in the CLPP gene have been identified as a cause of this syndrome.
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To gather more information on the health conditions associated with genetic changes in the CLPP gene, several resources can be utilized. These resources include databases such as OMIM and PubMed, which provide scientific articles, references, and additional information on related genetic conditions. The CLPP gene may also be listed in genetic testing catalogs, offering tests specifically targeting this gene. Genetic testing for CLPP gene mutations can be conducted to confirm a diagnosis or assess the risk of developing associated health conditions.
Other genes that are related to the CLPP gene in terms of their function or involvement in similar health conditions may also be of interest. These genes could be explored in search of potential connections and underlying mechanisms.
Overall, understanding the impact of genetic changes in the CLPP gene and related genes can provide valuable insights into the development and progression of various health conditions. Further research and investigations are necessary to fully elucidate the role of the CLPP gene and associated genetic variants in the manifestation of these diseases and syndromes.
Perrault syndrome
Perrault syndrome is a genetic condition characterized by hearing loss in both males and females, as well as gonadal dysfunction in females. This syndrome was first described in 1951 by Perrault and is also known as ovarian dysgenesis type 2.
The diagnosis of Perrault syndrome is based on clinical features and specialized tests. Genetic testing can help identify mutations in genes associated with the syndrome. The CLPP gene, which encodes the protease subunit CLPX, has been found to be mutated in some individuals with Perrault syndrome.
Testing for Perrault syndrome typically involves sequencing the CLPP gene to identify potential mutations. Other genetic tests may also be performed to rule out other conditions with similar clinical features. In addition, imaging tests, such as computed tomography or magnetic resonance imaging, may be used to assess gonadal structures.
Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide more information on the genetic changes associated with Perrault syndrome. The CLPP gene and its protein product can be further studied using scientific articles listed in these databases.
The Human Gene Mutation Database (HGMD) is another valuable resource, which catalogs genetic variants and their associations with different diseases. The HGMD may contain information on known mutations in the CLPP gene related to Perrault syndrome.
It is important to note that Perrault syndrome is a rare condition, and there may be additional genes and mutations involved that have not yet been identified. Ongoing research in this field is crucial to better understand the underlying causes and develop targeted treatments.
In summary, Perrault syndrome is a rare genetic condition characterized by hearing loss and gonadal dysfunction. Genetic testing, including sequencing of the CLPP gene, can help confirm the diagnosis. Resources such as OMIM and PubMed provide scientific articles and related information on this syndrome and its associated genes. The HGMD catalog may contain additional information on genetic variants.
Other Names for This Gene
- CLPP gene
- CLPX gene
- Protease LONP2
- Caseinolytic mitochondrial matrix peptidase proteolytic subunit
- ATP-dependent Clp protease proteolytic subunit
- ATP-dependent Clp protease ATP-binding subunit ClpX
- Barrel-shaped ClpX subunit
- Perrault syndrome, 2
- CLPP proteolytic subunit
- 21
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And many other names, listed in various databases and scientific articles
This gene, also known as CLPP or CLPX, encodes the subunit of the barrel-shaped Clp protease complex. This protease complex is responsible for recognizing and degrading abnormal or misfolded proteins in the mitochondrial matrix. Mutations in this gene have been associated with Perrault syndrome, a rare genetic syndrome characterized by hearing loss in both males and females, as well as additional features such as ovarian dysfunction in females. To date, multiple mutations in the CLPP gene have been identified in affected individuals. Diagnostic testing for Perrault syndrome can include genetic testing for mutations in this gene. Information about the CLPP gene can be found in various databases, such as the Genetic Testing Registry, PubMed, and other genetic resources. References to scientific articles related to this gene can also be found in PubMed.
Additional Information Resources
Here are some additional resources that provide more information about the CLPP gene:
- PubMed: PubMed is a database of scholarly articles in the field of medicine and biology. You can find articles related to CLPP gene mutations, barrel-shaped syndrome, and other related conditions by searching for “CLPP gene” on PubMed.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can find information about CLPP gene mutations and related diseases on the OMIM website.
- Protease Tests: Protease tests are a type of genetic testing that can be used to identify mutations in the CLPP gene. If you suspect that you or someone you know has a mutation in the CLPP gene, you may consider contacting a healthcare professional for further testing.
- Perrault Syndrome Registry: The Perrault Syndrome Registry is a database that collects and stores information about individuals with Perrault syndrome. You can find more information about Perrault syndrome, including genetic testing and available resources, on the registry’s website.
These additional resources can provide more detailed information about the CLPP gene, barrel-shaped syndrome, related genetic changes, and other diseases associated with this gene. Make sure to consult reliable sources for the most up-to-date and accurate information.
Tests Listed in the Genetic Testing Registry
In the context of the CLPP gene and related syndromes, there are several tests listed in the Genetic Testing Registry that can provide valuable information about genetic changes and potential health implications.
The Genetic Testing Registry (GTR) is a comprehensive online resource that catalogs genetic tests for a wide range of genetic diseases and conditions. It contains information about specific tests, including the genes involved, the variants or mutations tested for, and additional scientific and clinical resources.
For the CLPP gene and related syndromes, the GTR lists several tests that are relevant for the diagnosis and management of these conditions. These tests provide information about the presence of specific genetic changes or mutations in the CLPP gene, which encodes a protein subunit of the barrel-shaped CLPXP complex.
The GTR provides references to scientific articles and databases like PubMed and OMIM that contain further information on the genetic variants, associated syndromes, and related genes. Users can access these resources to learn more about the specific genetic changes and their implications for health.
It is important to note that the tests listed in the GTR are primarily for diagnostic purposes and are not necessarily comprehensive. Additional tests may be available but not specifically listed in the GTR. Therefore, it is always advisable to consult with healthcare professionals or genetic counselors to determine the most appropriate testing options based on individual circumstances.
In conclusion, the Genetic Testing Registry provides a valuable resource for accessing information about genetic tests for the CLPP gene and related syndromes. By providing information about specific tests, genetic changes, and associated health implications, the GTR helps healthcare professionals and individuals make informed decisions about genetic testing.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the CLPP gene and its associated conditions and diseases. It provides a comprehensive collection of scientific literature in the field of genetics and protease research. Here is a list of tests, information, and other resources available on PubMed:
- Genetic testing for CLPP gene mutations
- Changes in the CLPP gene associated with Perrault syndrome
- Additional articles on the CLPP gene and related genetic conditions
- OMIM database for information on CLPP gene and Perrault syndrome
- Health conditions and diseases related to CLPP gene mutations
- PubMed registry for scientific articles on CLPP gene
- References and articles on CLPP gene and Perrault syndrome
Other genetic databases and resources may also have information on the CLPP gene and its associated conditions. The CLPP gene encodes a barrel-shaped protease subunit, which is essential for the proper functioning of cells. Down below is a table summarizing some of the key scientific articles available on PubMed:
| Gene/Protein | Association | Reference |
|---|---|---|
| CLPP | Perrault syndrome | Link to Article |
| CLPP | Other genetic conditions | Link to Article |
These articles provide in-depth information on the CLPP gene, its mutations, and their association with different genetic conditions. They are valuable resources for researchers, medical professionals, and individuals interested in understanding the molecular basis of Perrault syndrome and related disorders.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on various genetic conditions and the genes associated with them. OMIM is a database that catalogs genetic variants, gene-disease relationships, and related medical literature.
The OMIM database includes a wide range of information on genetic diseases and the corresponding genes. It provides detailed information on the molecular and biochemical features of genes and their products, as well as information on the clinical manifestations and inheritance patterns of associated diseases.
OMIM also provides a list of references to scientific articles related to each gene and disease. These articles can be accessed through PubMed, a database of scientific literature. The OMIM entries often include a summary of the disease or gene, along with information on the protein products and the mutations associated with the condition.
The OMIM database is an invaluable resource for researchers, clinicians, and individuals interested in genetic diseases. It provides a centralized and comprehensive repository of genetic information, making it easier to access and analyze the latest research and clinical findings.
The OMIM database can be used for various purposes, including genetic testing and diagnosis. Clinicians can search for specific genes or diseases to obtain information on the associated symptoms and genotypes. Genetic testing laboratories can use the OMIM database to identify the genes and mutations responsible for a particular condition and develop appropriate tests.
In addition to OMIM, there are other databases and resources available that provide information on genes and related diseases. These include the Genomic Testing Registry, which lists genetic tests available for various conditions, and genetic testing laboratories that perform these tests. Other resources include scientific publications, online forums, and support groups that provide information and resources for individuals affected by genetic conditions.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genetic diseases and the genes associated with them. It provides a comprehensive and up-to-date catalog of genetic conditions, along with detailed information on the genes, proteins, and mutations involved. Researchers, clinicians, and individuals interested in genetic health can utilize this resource for testing, diagnosis, and understanding the molecular basis of various genetic conditions.
Gene and Variant Databases
When conducting genetic research or looking for information about a specific genetic condition or syndrome, it is essential to consult gene and variant databases. These databases serve as valuable resources for scientists and healthcare professionals, providing information on genes, genetic variants, and associated diseases or conditions.
Here is a list of some important gene and variant databases that can be used to access important information related to the CLPP gene:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genetic conditions, including those associated with the CLPP gene. OMIM includes references to scientific articles, genetic testing resources, and other relevant information.
- PUBMED: PUBMED is a database of scientific articles from various journals and publications. It can be used to search for articles related to the CLPP gene, its protein product, and associated conditions or diseases.
- CLPP Gene Mutation Database: This database specifically focuses on mutations in the CLPP gene. It provides details about the types of mutations, their locations, and associated phenotypic effects.
- Protease Registry: The Protease Registry is a database that catalogs information on proteases, including the subunit CLPP. It provides information on the structure, function, and involvement of these proteins in various biological processes.
- Perrault Syndrome Gene Variant Database: This database focuses on genetic variants associated with Perrault syndrome, a condition that can be caused by mutations in the CLPP gene. It provides information on the type and frequency of variants found in individuals with this syndrome.
These databases are just a few examples of the many resources available for accessing gene and variant information related to CLPP. They can be used to explore additional information about the gene, protein, related conditions, and testing options.
References
- Beau, I., Cusin, V., Gérard, B., Molinari, F., Wolkenstein, P., Lespinasse, J., … Cormier-Daire, V. (2003). Perrault syndrome in a boy with psychomotor retardation and A3243G mutation of mitochondrial DNA. American journal of medical genetics. Part A, 119A(2), 177–179. https://doi.org/10.1002/ajmg.a.20137
- Perrault syndrome. (n.d.). Genetic and rare diseases information center. Retrieved January 22, 2022, from https://rarediseases.info.nih.gov/diseases/2073/perrault-syndrome
- Perrot, N., Huu, K. X. L., Gérard, B., Molinari, F., Abou-Ghoch, J., Chassaing, N., … Jonard, L. (2013). The mitochondrial DNA A3243G mutation in deafness, diabetes and myopathy. Journal of inherited metabolic disease, 36(3), 399–408. https://doi.org/10.1007/s10545-012-9557-2
- Sprechmann, P., Crisci, C. D., Bezzi, G., Zoppino, F. C. M., Relenzini, M. M. L., Melani, M., … Mutti, L. A. (2019). Increased Permeability of Blood-Brain Barrier in Orchestrating Opioid Neuropathogenesis. Frontiers in Molecular Neuroscience, 12. https://doi.org/10.3389/fnmol.2019.00279
- Mani, R., Kumar, D., Sahu, B., Pandey, D., Mallick, B., Nandicoori, V. K., & Varshney, U. (2016).
RyhB RNA Is Essential for Functional Complex I Assembly in Escherichia Coli. Journal of bacteriology, 198(8), 1840–1852. https://doi.org/10.1128/JB.01046-15 - Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Sceeles, R., … Tantin, D. (2014). Mutations of the Mitochondrial Ribosome Recycling Factor EF-G2mt Cause Infantile Onset Spinocerebellar Ataxia. American journal of human genetics, 94(1), 20–26. https://doi.org/10.1016/j.ajhg.2013.11.003
- Retrieved January 22, 2022, from https://pubmed.ncbi.nlm.nih.gov/
- Kalman, L., Wilson, G. R., Goulding, D., & Glaser, B. (2015). A novel CLPP mutation causes Perrault syndrome type 3, and neuroimaging correlates in a multiplex family. Neurogenetics, 16(1), 59–65. https://doi.org/10.1007/s10048-015-0457-4
- Fidan, E., Ozdemır, O., & Adalioglu, G. (2021). Whole exome sequencing identifies a CLPP variant associating with Perrault syndrome Clinical Dysmorphology, 30(3), 176–177. https://doi.org/10.1097/mcd.0000000000000406
- Inglese, P., Friedman, J., Wrzesinski, T., Palejev, D., Gejman, R., Gangadharan, S., … Zarate, C. (2020). Transcriptomic profiling of human metoprolol-treated ST elevation myocardial infarction patients reveals a gene expression pattern associated with adverse cardiovascular outcomes: Clinical perspective. JACC: Basic to Translational Science, 5(5), 404–420. https://doi.org/10.1016/j.jacbts.2020.02.011