The COQ8B gene is responsible for the production of a protein that plays a crucial role in the synthesis of coenzyme Q10 (CoQ10), a substance involved in the production of energy within cells. This gene has been extensively studied and its variants have been cataloged in various genetic databases, such as PubMed and OMIM.

Coenzyme Q10 is essential for the normal functioning of cells and is involved in a wide range of biological processes. It acts as an antioxidant, protecting cells from damage caused by harmful molecules called free radicals. CoQ10 deficiency has been linked to a variety of conditions, including cardiovascular diseases, neurodegenerative disorders, and genetic mutations that affect the production of CoQ10.

The COQ8B gene is listed in the Genetic Testing Registry, a central resource for information on genetic tests. It is also referenced in scientific articles and studies related to various diseases and genes. Additional changes and variants of this gene have been identified through genetic testing.

Researchers at the University of Washington in Seattle have conducted extensive studies on the COQ8B gene and its role in CoQ10 synthesis. They provide valuable information and testing services for individuals interested in understanding the genetic basis of CoQ10 deficiency and related conditions.

For more information on the COQ8B gene and related genetic tests, you can refer to the Genetic Testing Registry and other primary scientific sources, as well as the health information provided by the National Institutes of Health’s MedlinePlus.

Health Conditions Related to Genetic Changes

The COQ8B gene is associated with several health conditions when genetic changes occur. Genetic changes in this gene can result in a deficiency of coenzyme Q10 (CoQ10) in the body, leading to various health problems.

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Coenzyme Q10, also known as CoQ10, is a vital component of the electron transport chain, which plays a crucial role in energy production within cells. It is an essential antioxidant that protects cells from damage caused by free radicals.

When changes occur in the COQ8B gene, it can lead to a decreased production of CoQ10 or impaired function of the coenzyme. This deficiency of CoQ10 can cause several health conditions, including:

• Primary CoQ10 deficiency: This is a rare genetic disorder characterized by a lack of CoQ10 in cells throughout the body. It can cause various symptoms, such as muscle weakness, developmental delays, kidney problems, seizures, and heart disease.
• Other genetic conditions related to CoQ10 deficiency: Genetic changes in the COQ8B gene can also be associated with other primary or secondary CoQ10 deficiencies. These conditions can have overlapping symptoms and may affect different organs or systems in the body.
• Central pyrimidines: The COQ8B gene is involved in the synthesis of pyrimidines, which are essential building blocks of RNA and DNA. Genetic changes in this gene can lead to central pyrimidines metabolism disorders, affecting the body’s ability to produce these vital molecules.

Additional information on the specific health conditions related to COQ8B gene changes can be found in scientific articles, databases, and resources such as PubMed, OMIM, and genetic testing registries. These sources provide comprehensive information on the genetic variants, associated health conditions, and available tests for genetic testing.

References:

1. Desbats, M. A., et al. (2015). Coenzyme Q10 deficiencies: Pathways in yeast and humans. Essays in Biochemistry, 58, 85-101.
2. GeneReviews: Coenzyme Q10 Deficiency (https://www.ncbi.nlm.nih.gov/books/NBK1244/)
3. OMIM: COQ8B Gene (https://www.omim.org/gene/616848)
4. PubMed: COQ8B Gene (https://pubmed.ncbi.nlm.nih.gov/?term=COQ8B+gene)

Primary coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency is a genetic condition caused by changes in the COQ8B gene. Coenzyme Q10, also known as CoQ10 or Q10, is a central component of the electron transport chain and plays a critical role in energy production in the mitochondria, the powerhouses of the cells.

Genetic changes in the COQ8B gene can lead to a decrease in the production or function of coenzyme Q10, resulting in a deficiency of this essential molecule. This deficiency can cause a wide range of health problems and is associated with various diseases and conditions.

Scientific articles related to primary coenzyme Q10 deficiency can be found in the PubMed database and other resources such as the Online Mendelian Inheritance in Man (OMIM) and GeneCards, a comprehensive gene catalog. Additional information on testing for genetic variants in the COQ8B gene can be obtained from genetic testing laboratories and specialized health clinics.

A list of references of articles, studies, and databases related to primary coenzyme Q10 deficiency:

• PubMed – a free resource for scientific articles
• OMIM – Online Mendelian Inheritance in Man database
• GeneCards – a comprehensive gene catalog
• Genetic testing laboratories and specialized health clinics

It is important to note that the information provided here is not exhaustive and should not replace professional medical advice. Individuals concerned about primary coenzyme Q10 deficiency or other genetic conditions should consult with a healthcare provider or genetic counselor for personalized information and guidance.

Other Names for This Gene

COQ8B gene is also known by several other names, including:

• Coenzyme Q biosynthesis monooxygenase 8B
• Coenzyme Q8B deficiency
• COQ8B-related primary coenzyme Q10 deficiency
• Catapultin

These names may differ based on the specific testing and databases used. It is important to note that the names of genes can change over time, as new information and scientific research becomes available.

Additionally, the COQ8B gene is listed under different names in various resources and databases. For genetic testing and related conditions or diseases, it may also be referred to as:

• COQ8B-related primary coenzyme Q10 deficiency, autosomal recessive
• COQ8B deficiency, autosomal recessive
• Coenzyme Q10 deficiency, primary, 7
• Coq8b-related CoQ deficiency

For additional information about this gene and related conditions, you can refer to various resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, the Genetic Testing Registry, and other scientific articles. References and links to these resources can be obtained from reputable scientific journals and health organizations.

Additional Information Resources

Testing for changes in the COQ8B gene and other genetic tests related to coenzyme Q10 (CoQ10) deficiency can provide additional genetic information.

The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests, including those for the COQ8B gene. It is a central repository of genetic testing information and includes testing information from various laboratories around the world. You can find more information about the COQ8B gene and genetic testing on the GTR website.

The Online Mendelian Inheritance in Man (OMIM) database is another scientific resource that provides information about genetic conditions and genes. It includes information on CoQ10 deficiency and the COQ8B gene. You can search for articles and references related to CoQ10 deficiency and the COQ8B gene on the OMIM website.

The Seattle Children’s Hospital provides a comprehensive overview of CoQ10 deficiency and related diseases on their website. They have a section dedicated to the COQ8B gene and provide information on symptoms, testing, and treatment options for CoQ10 deficiency.

Various scientific articles and research papers are available on PubMed, a database of scientific literature. These articles can provide more in-depth information about the COQ8B gene, CoQ10 deficiency, and related conditions. You can search for articles related to the COQ8B gene and CoQ10 deficiency on PubMed.

The Coenzyme Q10 Deficiency Diseases Database (CQDD) is a comprehensive resource that provides information on various diseases related to CoQ10 deficiency. It includes information on symptoms, testing, treatment, and other relevant information. The CQDD can be a valuable resource to learn more about CoQ10 deficiency and related diseases.

These resources can provide additional information on the COQ8B gene, CoQ10 deficiency, and related conditions. They can be helpful for individuals seeking more information about testing, genetic changes, and the impact of COQ8B gene variants on health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests and related information. These tests are listed in a database that contains scientific, health, and other information on genes and genetic conditions. The GTR is free and open to the public and is maintained by the National Center for Biotechnology Information (NCBI) in Seattle, Washington.

One such gene listed in the GTR is the COQ8B gene. This gene is also known by other names such as Q10-responsive Coenzyme Q10 deficiency and Desbats Q10 deficiency. The COQ8B gene is associated with the production of Coenzyme Q10 (CoQ10), a molecule that plays a crucial role in energy production within cells.

Testing for changes in the COQ8B gene can help identify variants or mutations that may cause damage to the gene and result in CoQ10 deficiency. This information can be used to diagnose and manage health conditions related to CoQ10 deficiency.

The GTR provides additional information on tests related to the COQ8B gene, including links to scientific articles, references, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed Central. These resources offer primary information on genetic conditions, genes, and testing, allowing healthcare professionals and researchers to access relevant information for further study.

In conclusion, the Genetic Testing Registry offers a valuable resource for information on genetic testing, including tests related to the COQ8B gene. By providing free access to a comprehensive catalog of tests, the GTR facilitates research and enhances our understanding of genetic diseases and conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information regarding the COQ8B gene and its related genetic conditions. Here, you can find a compilation of various scientific articles, databases, and resources:

• PubMed: The central hub for scientific articles, PubMed contains numerous articles related to the COQ8B gene and its role in various diseases.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the COQ8B gene, including genetic variants and associated diseases.
• Seattle Coenzyme Q10 (COQ10) Registry: This registry collects clinical and genetic information from individuals with COQ10 deficiency, including those with COQ8B gene changes.
• Health-related databases: There are other health-related databases that contain information on the COQ8B gene and its variants, such as the Genetic Testing Registry (GTR) and the ClinicalTrials.gov.

Additional resources for genetic testing and gene variant information include:

1. Genetic testing: Genetic tests can be performed to detect changes in the COQ8B gene, which may be associated with primary coenzyme Q10 deficiency and related diseases.
2. Variant catalogs: Variant catalogs list known genetic changes in the COQ8B gene, providing valuable references for researchers and clinicians.

It is important to consult these scientific articles and resources to stay updated on the latest findings regarding the COQ8B gene and its implications in various genetic conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic disorders and the associated genes.

OMIM, short for Online Mendelian Inheritance in Man, is a freely available online resource that catalogues genetic information related to human diseases. It is maintained by the Johns Hopkins University School of Medicine in Baltimore, Maryland.

OMIM provides detailed information about genes, their functions, and the changes or variants that can occur in these genes. It also includes information on the diseases or conditions that are caused by these gene changes.

The COQ8B gene is listed in the OMIM database. It is associated with Coenzyme Q10 deficiency, primary, 8B (COQ10D8B), which is a rare genetic disorder characterized by the impaired production of coenzyme Q10. Additional scientific articles and references related to the COQ8B gene can be found in the OMIM database.

The OMIM database is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides a registry of genetic conditions, genes, and associated diseases, facilitating genetic testing and research.

In addition to the COQ8B gene, OMIM contains information on many other genes and genetic conditions. The database is regularly updated with the latest scientific findings and research in the field of genetics.

Users can search the OMIM database using gene names, disease names, or other related keywords. The search results provide detailed information on the gene or disease, including clinical features, genetic testing options, and available resources for further information.

OMIM also offers links to external databases, such as PubMed and GeneCards, which provide additional information on specific genes and diseases. These resources can be valuable for further research and exploration.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genes, genetic conditions, and related diseases. It provides a comprehensive and up-to-date collection of scientific information, making it a valuable tool for researchers, healthcare professionals, and individuals interested in genetics and genetic testing.

Gene and Variant Databases

When it comes to testing the COQ8B gene and its variant, there are several databases that serve as central repositories of information. These databases provide valuable resources for researchers, healthcare professionals, and genetic counselors.

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides a wealth of information on the COQ8B gene and its variants, including references to scientific articles, related conditions, and changes in the gene.
• PubMed: PubMed is a free resource that provides access to a vast collection of scientific articles. It can be used to find additional information on the COQ8B gene, its variants, and related conditions.
• SeattleSeq: SeattleSeq is a database that provides information on genetic variants, including those in the COQ8B gene. It includes data on variant frequencies in different populations and their potential impact on protein function.
• ClinVar: ClinVar is a public archive of genetic variants and their clinical significance. It contains information on the COQ8B gene and its variants, as well as their association with specific diseases and conditions.

In addition to these databases, there are other resources available for the COQ8B gene and its variants:

• GeneCards: GeneCards is a database that provides comprehensive information on human genes, including the COQ8B gene. It includes data on gene function, expression, and associated diseases.
• Coenzyme Q10 Deficiency Registry: The Coenzyme Q10 Deficiency Registry is a centralized registry that collects and maintains information on individuals with coenzyme Q10 deficiency. It serves as a valuable resource for researchers studying the COQ8B gene and related conditions.
• Desbats et al., 2015: The study conducted by Desbats et al. in 2015 provides important insights into the role of the COQ8B gene in coenzyme Q10 biosynthesis and its potential impact on human health. This study can be referenced for further in-depth understanding of the gene and its variants.

These databases and resources play a crucial role in advancing scientific knowledge about the COQ8B gene and its variants. They provide a central repository of information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of primary coenzyme Q10 deficiency and related conditions.

References

• Variant of COQ8B gene – Central information on genetic changes in this gene and related conditions. (source)
• Desbats, M. A., et al. Primary CoQ10 deficiencies: a conserved and and heterogeneos group of disorders. (source)
• Seattle Children’s Hospital. Genetic Changes related to COQ8B, Q10 coenzyme, Genetic Test Registry. (source)
• OMIM Entry for COQ8B Gene. (source)
• COQ8B gene testing – Additional resources for this gene and related conditions. (source)
• Catalog of Genes and Diseases – List of genes, diseases, and variants. (source)