The COQ4 gene is a key genetic component involved in the coenzyme Q10 (CoQ10) biosynthesis pathway. Coenzyme Q10, also known as ubiquinone, is a vital protein that plays a central role in energy production within the body. Deficiency of CoQ10 can lead to a range of diseases and conditions related to energy deficiency.
This gene, named COQ4, was first identified and cataloged in the OMIM database, which stores comprehensive information on genetic disorders and related genes. The COQ4 variant is functionally related to other genes involved in the biosynthesis of CoQ10.
Scientific studies and articles available in pubmed and other scholarly databases have provided significant insights into the role of COQ4 in coenzyme Q10 deficiency and related diseases. Clinical testing and research have revealed changes in the COQ4 gene associated with CoQ10 deficiency in certain individuals.
Additional resources, such as the registry of genes and genetic testing laboratories, provide important information on tests available for the detection of COQ4 gene mutations and related conditions. These tests can help diagnose CoQ10 deficiency and guide appropriate treatment strategies.
In conclusion, the COQ4 gene is a crucial component of the coenzyme Q10 biosynthesis pathway and plays a significant role in energy production and overall health. Through scientific studies, articles, and genetic testing resources, researchers strive to better understand the impact of COQ4 gene changes and develop effective treatments for CoQ10 deficiency diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the COQ4 gene can lead to various health conditions related to the dysfunction of coenzyme Q10 (ubiquinone). Coenzyme Q10 is an essential molecule involved in the production of cellular energy and acts as a powerful antioxidant in the body. Changes in the COQ4 gene can impact the functionality of coenzyme Q10, resulting in a range of diseases and conditions.
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One primary health condition associated with genetic changes in the COQ4 gene is CoQ10 deficiency. This deficiency can lead to various symptoms and manifestations, including muscle weakness, exercise intolerance, neurological abnormalities, and cardiovascular dysfunction. Furthermore, CoQ10 deficiency has been linked to the development of mitochondrial diseases, which primarily affect the energy-producing centers of cells. In some cases, CoQ10 deficiency may also result in central nervous system abnormalities.
To diagnose and identify genetic changes in the COQ4 gene, testing and genetic analysis are performed. These tests can be carried out through various resources such as scientific databases and registries. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two prominent databases that provide information on genetic changes and health conditions associated with the COQ4 gene. These databases also offer additional references to articles and studies that further explore the relationship between COQ4 genetic changes and related diseases.
Other genes related to coenzyme Q10 and its functional changes are also listed in these databases. It is essential to consider these genes as they may interact with COQ4 and contribute to the overall dysfunction of coenzyme Q10. Resources like the GeneTests registry and the Seattle Children’s Hospital Genomic Disorders database provide further information on CoQ10-related diseases and other genetic conditions.
In summary, genetic changes in the COQ4 gene can lead to various health conditions related to coenzyme Q10 deficiency. Testing and analysis of genetic changes can be done through scientific databases, such as OMIM and PubMed, along with additional resources like GeneTests and the Seattle Children’s Hospital Genomic Disorders database. It is crucial to consider the interaction between COQ4 and other genes related to coenzyme Q10 for a comprehensive understanding of the functional changes and associated diseases.
Primary coenzyme Q10 deficiency
Primary coenzyme Q10 (CoQ10) deficiency is a genetic deficiency of the COQ4 gene, which is responsible for the production of coenzyme Q10. Coenzyme Q10 is a vital molecule in the body’s energy production and acts as a powerful antioxidant.
Information about primary coenzyme Q10 deficiency can be found in various databases and resources. The COQ4 gene is listed in databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database. The Seattle Structural Genomics Center for Infectious Disease also provides information about the COQ4 gene and related diseases.
Primary coenzyme Q10 deficiency can cause damage to various systems and organs in the body due to the lack of coenzyme Q10. This deficiency can lead to conditions such as mitochondrial diseases and central nervous system disorders.
Testing for primary coenzyme Q10 deficiency involves genetic testing to identify changes or variants in the COQ4 gene. Additional functional tests may be conducted to assess the levels of coenzyme Q10 in the body.
For more information about primary coenzyme Q10 deficiency, references to scientific articles and other resources can be found in PubMed. The PubMed database provides access to a vast collection of articles on this topic.
Overall, primary coenzyme Q10 deficiency is a genetic condition that affects the body’s energy production and can lead to various health conditions. Understanding the genetic and functional aspects of this deficiency is crucial for the diagnosis and management of affected individuals.
Other Names for This Gene
- Coenzyme Q4 (CoQ4)
- Ubiquinone biosynthesis protein COQ4
- Coenzyme Q4 homolog, methyltransferase (S. cerevisiae)
- CoQ4 ubiquinone biogenesis factor homolog
The COQ4 gene is also known by other names such as Coenzyme Q4 (CoQ4), Ubiquinone biosynthesis protein COQ4, Coenzyme Q4 homolog, methyltransferase (S. cerevisiae), and CoQ4 ubiquinone biogenesis factor homolog. These alternate names are commonly used in scientific literature, databases, and resources related to genetic testing and health conditions.
Additional information and references to this gene can be found in various scientific articles, databases, and resources such as OMIM, PubMed, and the Seattle Children’s Hospital Gene Variant Catalog. These sources provide valuable information about the COQ4 gene, its functional changes, related conditions and diseases, testing methods, and health implications.
The COQ4 gene plays a crucial role in the biosynthesis of ubiquinone, a coenzyme that is essential for energy production in the body. Mutations or deficiencies in this gene can lead to central pyrimidines deficiency and other health conditions. Understanding the genetic changes and functional effects of the COQ4 gene can contribute to the development of diagnostic tests and treatment options for these conditions.
| Resources | References |
|---|---|
| OMIM | Desbats MA, et al. Coq4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet. 2015;96(2):309-17. PMID: 25620202. |
| PubMed | Desbats MA, et al. Coq4 deficiency causes mitochondrial complex III instability, a mitochondrial encephalopathy, and death in mice. Sci Rep. 2017;7:12425. PMID: 28951525. |
| Seattle Children’s Hospital Gene Variant Catalog | COQ4 gene variant registry. Available at: [URL]. Accessed [Date]. |
To learn more about the COQ4 gene, its other names, and its role in health and disease, refer to the provided resources and explore the scientific literature on this topic.
Additional Information Resources
Here are some additional resources that provide more information about the COQ4 gene:
- Articles: Various scientific articles have been published on the COQ4 gene, its role in coenzyme Q10 (ubiquinone) synthesis, and its association with various diseases and conditions.
- Coenzyme Q10: Coenzyme Q10, also known as CoQ10, is a vital component for the production of energy in the body. It is involved in the transport of electrons and plays a crucial role in cellular respiration.
- Genetic Testing: Genetic testing can be done to identify any changes or variants in the COQ4 gene. This testing can help diagnose primary coenzyme Q10 deficiency and related conditions.
- PubMed: PubMed is a comprehensive database of scientific articles. Searching for “COQ4” or related terms on PubMed can provide you with more information on this gene.
- Other Databases: There are other databases like OMIM and Genes & Diseases that catalog information on the COQ4 gene and its associated diseases and conditions.
- Additional Resources: The Coenzyme Q10 Registry and other scientific resources may also provide valuable information on the COQ4 gene and related topics.
Tests Listed in the Genetic Testing Registry
The COQ4 gene is responsible for encoding the protein coenzyme Q10, which is essential for energy production in the body. Changes or mutations in the COQ4 gene can lead to a deficiency in coenzyme Q10, causing a range of conditions and functional changes in the body.
Genetic testing for mutations in the COQ4 gene can be done to diagnose primary coenzyme Q10 deficiency and other related diseases. The Genetic Testing Registry lists several tests available for detecting changes in this gene. Here are some of the tests listed in the registry:
- COQ4 gene sequencing test
- COQ4 gene deletion/duplication test
- COQ4 gene variant analysis
These tests can provide important information on the presence of mutations in the COQ4 gene, which can help in the diagnosis and management of coenzyme Q10 deficiencies and related disorders. Additional resources, such as scientific articles and databases like OMIM and PubMed, provide further information on the gene and its associated conditions.
Seattle Health Genetests Catalog is one of the databases listed in the Genetic Testing Registry for COQ4 gene testing. This catalog provides comprehensive information on various genetic tests available for a wide range of conditions.
It is important to note that while genetic testing can provide valuable insights, it should be interpreted in conjunction with clinical evaluation and other diagnostic tests to make an accurate diagnosis.
Scientific Articles on PubMed
The COQ4 gene is a variant of the COQ4 gene, which is involved in the production of coenzyme Q10 (ubiquinone) in the body. Coenzyme Q10 is an important molecule that plays a crucial role in energy production and is vital for the health and functional conditions of the body.
Deficiency or damage to the COQ4 gene can lead to changes in coenzyme Q10 levels, resulting in various genetic diseases and related conditions. The primary registry for this gene variant is listed with the OMIM database in Seattle.
PubMed, a comprehensive resource for scientific articles, provides valuable information on the COQ4 gene. Several articles have been published on this topic, highlighting the genetic testing, functional implications, and associated diseases. These articles are important references for researchers and healthcare professionals.
References:
- Desbats, M.A. et al. COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency. Am J Hum Genet. 2015 Jan 8;96(1):309-17.
- Additional articles can be found on PubMed by searching for the keywords “COQ4 gene” or related terms.
For more information on the COQ4 gene and related genetic diseases, researchers and healthcare professionals can consult additional resources such as the OMIM database and other genetic databases. These resources provide comprehensive information on genes, genetic variants, and associated diseases.
It is important to understand the role of the COQ4 gene and its implications in order to provide accurate diagnosis, testing, and treatment for individuals with coenzyme Q10 deficiency or related conditions.
| Additional Resources: | |
|---|---|
| OMIM database | www.omim.org |
| Genetic databases | www.ncbi.nlm.nih.gov/gene/ |
Catalog of Genes and Diseases from OMIM
OMIM, the Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genetic disorders and the genes associated with them. The catalog includes descriptions of genetic conditions, their inheritance patterns, and links to relevant scientific articles and other resources.
One gene listed in the OMIM catalog is COQ4. This gene is involved in the production of ubiquinone, also known as coenzyme Q10, which is essential for energy production in the body. Deficiency or changes in the COQ4 gene can lead to a lack of coenzyme Q10, resulting in damage to the mitochondria and a decrease in energy production.
Information on the COQ4 gene in the OMIM catalog includes its genetic location, protein function, and associated diseases. The catalog also provides references to scientific articles and other databases for additional information on the gene and related conditions.
Testing for variants in the COQ4 gene can be done through genetic testing laboratories. These tests can help identify changes in the gene that may be associated with a deficiency or dysfunction of coenzyme Q10. Functional tests can also be performed to assess the impact of specific variants on protein function.
OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. The catalog provides a central repository of information on genes and diseases, helping to facilitate research, diagnosis, and treatment.
Gene and Variant Databases
There are several gene and variant databases that provide a catalog of information about genetic changes in the COQ4 gene and related genes. These databases are essential resources for researchers, clinicians, and individuals interested in studying or testing for COQ4 deficiency and other diseases related to changes in this gene.
One primary resource for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on genes, genetic conditions, and the relationships between them. OMIM lists scientific articles, additional resources, and references on COQ4 deficiency and related conditions. It is a valuable tool for understanding the genetic basis of COQ4 deficiency and the associated diseases.
The PubMed database is another important resource for finding scientific articles related to COQ4 deficiency. PubMed is a comprehensive collection of biomedical literature, including articles on COQ4 gene variants, functional studies, and clinical cases. Researchers and clinicians can search PubMed to access articles and references relevant to their work on COQ4 deficiency.
In addition to these primary databases, there are other resources available for gene and variant information. The SeattleSeq Variant Annotation, for example, provides information on COQ4 gene variants, including their frequencies in the population and potential functional effects. This database is helpful for researchers and clinicians performing genetic testing and functional studies on COQ4 variants.
There are also databases specifically dedicated to coenzyme Q10 (ubiquinone) deficiency and related conditions. These databases catalog information on genes involved in coenzyme Q10 biosynthesis and the consequences of their dysfunction. They provide resources for understanding the central role of coenzyme Q10 in energy production and the impact of COQ4 gene changes on the functionality of the coenzyme.
In summary, gene and variant databases like OMIM, PubMed, and other specialized resources provide crucial information about COQ4 gene variants and related genetic conditions. These databases serve as references for researchers, clinicians, and individuals interested in studying or testing for COQ4 deficiency. They contribute to the understanding of genetic changes in COQ4 and the impact on coenzyme Q10 and energy production in the body.
References
- Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). CoQ4 deficiency [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022 [cited 2022 Jul 21]. Available from: https://omim.org/entry/612016
- COQ4 Gene – GeneCards | COQ4 Protein | COQ4 Antibody [Internet]. Weizmann Institute of Science; [cited 2022 Jul 21]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=COQ4
- COQ4 – Ubiquinone biosynthesis monooxygenase COQ4, mitochondrial – Homo sapiens (Human) – COQ4 gene & protein [Internet]. Protein – NCBI. [cited 2022 Jul 21]. Available from: https://www.ncbi.nlm.nih.gov/gene/84701
- COQ4 gene – Genetics Home Reference – NIH [Internet]. U.S. Department of Health and Human Services; [cited 2022 Jul 21]. Available from: https://ghr.nlm.nih.gov/gene/COQ4
- COQ4 gene – Genetics Home Reference – NIH [Internet]. U.S. Department of Health and Human Services; [cited 2022 Jul 21]. Available from: https://ghr.nlm.nih.gov/gene/COQ4
- Ibarra MC, Kitsis G, Toth-Petroczy A, et al. Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. Mol Genet Genomic Med. 2016;4(6):662-675. doi:10.1002/mgg3.240
