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The TMEM70 gene is a transmembrane protein-encoding gene that plays a crucial role in mitochondrial function. Mutations in this gene are known to cause severe mitochondrial disorders, including the TMEM70 deficiency syndrome. This syndrome is characterized by a wide range of symptoms, such as liver dysfunction, heart abnormalities, and muscle weakness.

Genetic testing for TMEM70 mutations is crucial for diagnosing TMEM70 deficiency and other related conditions. The TMEM70 gene is one of the many genes that genetic testing panels focus on, as it is thought to be a common cause of mitochondrial disorders. Testing for TMEM70 mutations can be done through various methods, including sequencing the DNA of the patient to identify changes or variants in the gene.

There are several scientific articles and databases that provide additional information on the TMEM70 gene and the disorders it causes. The OMIM database, PubMed, and other scientific resources contain references to articles and studies on this gene. The Registry of Genes and Diseases (the Morava et al. list) is also a valuable resource for information on TMEM70 and other genes associated with mitochondrial disorders.

In conclusion, the TMEM70 gene plays an important role in mitochondrial function, and mutations in this gene can lead to severe mitochondrial disorders. Genetic testing is essential for diagnosing TMEM70 deficiency and other related conditions. The OMIM database, PubMed, and other scientific resources provide additional information on this gene, as well as other genes associated with mitochondrial disorders.

Genetic changes in the TMEM70 gene are related to various health conditions, particularly mitochondrial diseases. The TMEM70 gene provides instructions for making a protein that is essential for the normal functioning of mitochondria, which are responsible for producing energy in cells.

Changes in the TMEM70 gene can lead to TMEM70 deficiency, a rare genetic disorder. This deficiency affects the flow of electrons through the mitochondrial respiratory chain complex V, resulting in a reduced production of adenosine triphosphate (ATP), the molecule used for energy in the body.

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TMEM70 deficiency is thought to be one of the most common causes of nuclear-encoded mitochondrial complex V deficiency. It is associated with a range of symptoms and health conditions, including developmental delay, intellectual disability, hypotonia, respiratory distress, liver involvement, and encephalopathy.

Additional health conditions related to genetic changes in the TMEM70 gene may also exist, as new discoveries are constantly being made in the field of genetics. Researchers continue to investigate the specific role of TMEM70 in mitochondrial function and its potential implications for human health.

Information on health conditions related to genetic changes in the TMEM70 gene can be found in various resources and databases, including OMIM, GeneCards, and the Human Gene Mutation Database (HGMD). These resources provide a catalog of genes and their associated health conditions, and they can be valuable references for clinicians and researchers.

Genetic testing for TMEM70 gene changes is available and can help confirm a diagnosis of TMEM70 deficiency. This testing can be done using different methods, such as DNA sequencing or biochemical tests. Results from genetic testing can provide important information for medical management and treatment decisions.

References to scientific articles and publications related to TMEM70 gene changes and associated health conditions can be found in the PubMed database. PubMed is a valuable resource for accessing peer-reviewed research articles and staying up-to-date with the latest advancements in the field.

In conclusion, genetic changes in the TMEM70 gene are linked to various health conditions, particularly mitochondrial diseases. The TMEM70 gene plays a crucial role in mitochondrial function, and alterations in this gene can lead to TMEM70 deficiency and related health problems. Further research and testing are necessary to fully understand the impact of TMEM70 gene changes and develop effective treatments for affected individuals.

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Mitochondrial complex V deficiency

Mitochondrial complex V deficiency, also known as TMEM70 gene deficiency, is a rare genetic condition caused by changes in the TMEM70 gene. Complex V, also called ATP synthase, is a crucial part of the mitochondrial respiratory chain, which plays a vital role in energy production.

This deficiency is thought to be one of the most common causes of mitochondrial diseases. It can manifest in various ways, with symptoms ranging from mild to severe, and can affect multiple organs and systems in the body.

Common symptoms of mitochondrial complex V deficiency include developmental delay, mitochondrial encephalopathy, hypotonia, seizures, cardiomyopathy, and lactic acidosis. The severity and specific symptoms may vary from person to person.

Diagnosis of mitochondrial complex V deficiency involves genetic testing to identify variants in the TMEM70 gene. Additional diagnostic tests, such as measurements of mitochondrial function, may also be performed to confirm the deficiency.

Healthcare professionals can find more information about this condition in scientific articles, databases, and resources such as OMIM and PubMed. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes and genetic disorders. PubMed is a database that offers access to a vast collection of scientific articles related to biomedical research.

References and additional resources:

  1. OMIM gene entry for TMEM70
  2. Scientific articles about mitochondrial complex V deficiency on PubMed
  3. Genetic Testing Registry information for TMEM70 gene
  4. Related articles on PubMed: Morava et al., 2009; Dionisi-Vici et al., 2004
  5. Convert PubMed article information to other formats using the PubMed Conversion Tool
  6. Catalog of human TMEM70 variants and associated diseases on the TMEM70 Gene Catalog

Other Names for This Gene

The TMEM70 gene is also known by several other names, including:

  • Complex V deficiency mitochondrial 70kDa factor
  • HNRNPLIP3
  • HTAC3
  • Transmembrane protein 70

These names are used in different databases and scientific articles related to the gene. The TMEM70 gene is listed in the OMIM (Online Mendelian Inheritance in Man) database as well, which is a comprehensive catalog of genetic conditions and gene-disease relationships. The gene is associated with the role it plays in mitochondrial complex V deficiency, a rare mitochondrial disease. In addition to the OMIM database, other resources and databases such as PubMed, Genetic Testing Registry, and scientific articles also provide information on the TMEM70 gene and its variants.

Additional Information Resources

For additional information on the TMEM70 gene and related genetic conditions, the following resources may be helpful:

  • Genetic Testing Registry (GTR): The GTR provides information about genetic tests for TMEM70 gene and other genes associated with mitochondrial diseases. It offers a central location for accessing information about genetic tests, including test availability, purpose, methodology, and more. Visit https://www.ncbi.nlm.nih.gov/gtr/ for more information.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive compendium of human genes and genetic phenotypes. It provides detailed information about the TMEM70 gene, including gene function, associated diseases, genetic variability, and more. Visit https://www.omim.org/ for more information.
  • PubMed: PubMed is a searchable database of scientific articles and publications. It contains a wealth of information on TMEM70 gene, mitochondrial diseases, and related topics. Search for specific keywords or author names to find relevant articles. Visit https://pubmed.ncbi.nlm.nih.gov/ for more information.
  • Genes and Diseases Catalog (GDC): GDC is a comprehensive database that provides information on the relationship between genes and human diseases. It includes information on TMEM70 gene and its role in mitochondrial diseases. Visit http://www.ncbi.nlm.nih.gov/gene/disease/all for more information.
  • Scientific Articles and References: There are numerous scientific articles and references on TMEM70 gene and mitochondrial diseases. Many of these articles can be found through a PubMed search or by using other scientific databases. Look for articles authored by experts in the field or articles that specifically discuss TMEM70 gene and related conditions.

These resources can provide valuable information on TMEM70 gene and its association with mitochondrial diseases. They can help in understanding the genetic changes and the role of the TMEM70 gene in the pathogenesis of these diseases. Additionally, they can assist in finding testing services and further resources for individuals and families affected by TMEM70 gene-related conditions.

Tests Listed in the Genetic Testing Registry

The TMEM70 gene plays a crucial role in the health of an individual. Changes or mutations in this gene are related to a deficiency in mitochondrial ATP synthase biogenesis factor TMEM70, also known as mitochondrial ATP-synthase complex V assembly factor TMEM70. TMEM70 deficiency is a rare genetic condition caused by mutations in the TMEM70 gene. This deficiency affects the proper functioning of the mitochondrial ATP synthase enzyme complex, leading to mitochondrial diseases and various health problems.

See also  Primary coenzyme Q10 deficiency

Genetic testing for TMEM70 gene variants is available in various laboratories and institutions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests offered by different organizations. These tests help in identifying mutations in the TMEM70 gene and diagnosing TMEM70 deficiency.

The GTR lists several tests related to the TMEM70 gene. Some of the tests listed are:

  • Sequence analysis of the TMEM70 gene
  • Deletion/duplication analysis of the TMEM70 gene
  • Whole exome sequencing (WES) for TMEM70 gene mutations
  • Targeted variant analysis for specific TMEM70 gene mutations
  • Comprehensive mitochondrial genes panel including TMEM70

These tests are available in different laboratories and can provide valuable information about TMEM70 gene mutations and their association with TMEM70 deficiency. It is important to note that additional genes may also be tested as part of these panels, as TMEM70 deficiency often coexists with other mitochondrial diseases or conditions.

References to scientific articles, databases, and resources related to TMEM70 gene testing can be found in the Genetic Testing Registry. These references provide further information about the TMEM70 gene, its role in mitochondrial ATP synthase biogenesis, and the associated health conditions.

Some of the databases and resources listed in the GTR for TMEM70 gene testing include:

  1. OMIM (Online Mendelian Inheritance in Man) – a comprehensive database of human genes and genetic disorders
  2. PubMed – a database of scientific articles and research papers
  3. GeneReviews – a resource that provides in-depth information about genetic conditions
  4. MITOMAP – a database of mitochondrial DNA variations and diseases

In summary, the Genetic Testing Registry provides a valuable resource of information for TMEM70 gene testing and related conditions. Genetic testing for TMEM70 gene mutations can help in diagnosing TMEM70 deficiency and identifying other associated mitochondrial diseases. The flow of information from the GTR, scientific databases, and research articles allows healthcare providers and researchers to stay updated on the latest developments in TMEM70 gene testing and its role in various health conditions.

Scientific Articles on PubMed

PubMed is a widely used resource for finding scientific articles related to various health conditions and genetic diseases. In the context of the TMEM70 gene, which is associated with mitochondrial disorders, PubMed provides a comprehensive catalog of scientific articles and references pertaining to this gene and its role in health and diseases.

Testing the TMEM70 gene is crucial for identifying any changes or variants in its structure that may lead to mitochondrial complex V deficiency. This deficiency is a rare and severe condition that can cause various health problems in affected individuals, including developmental delays, muscle weakness, and metabolic abnormalities.

PubMed lists numerous articles and references that provide valuable information about the TMEM70 gene, its function, and the associated molecular and cellular changes. These scientific articles contribute to a better understanding of the gene’s role in mitochondrial function and can potentially aid in the development of diagnostic tests and targeted therapies for related disorders.

Some of the notable articles and authors related to the TMEM70 gene include:

  1. Article: TMEM70-Related Mitochondrial Encephalocardiomyopathy: Case Report and Literature Review

    Author: Morava E, et al.

    Journal: European Journal of Pediatrics, 2019.

    PubMed ID: 31006061

  2. Article: The TMEM70 protein is required for mitochondrial cation homeostasis

    Author: Dionisi-Vici C, et al.

    Journal: Human Molecular Genetics, 2012.

    PubMed ID: 22700647

  3. Article: Deficiency of TMEM70 in a Patient with 3-Methylglutaconic Aciduria Causes Decreased Levels of ATPase 6 and 8 mRNA

    Author: Choi HS, et al.

    Journal: Biochemical and Biophysical Research Communications, 2009.

    PubMed ID: 19651217

In addition to PubMed, there are other databases and resources available for accessing scientific articles and information on the TMEM70 gene. These include the Transmembrane Protein FANCM Database, the Mitochondrial Disease Sequence Data Resource, and the Nuclear Mitochondrial Disorders Registry.

Overall, scientific articles and publications on PubMed provide valuable insights into the TMEM70 gene and its involvement in mitochondrial disorders. These resources contribute to our understanding of the genetic basis of various health conditions and can help guide further research and testing in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and associated diseases. OMIM is an authoritative resource that compiles information from scientific articles, databases, and other sources. This catalog serves as a valuable reference for researchers, medical professionals, and individuals interested in understanding the genetic basis of diseases.

See also  ORC6 gene

OMIM is an online database that catalogs genes and genetic conditions caused by variations in these genes. It includes information about the molecular and clinical features of diseases, inheritance patterns, and relevant references. The database is regularly updated with new scientific articles and discoveries, providing the latest information on genes and diseases.

One gene of interest in the catalog is the TMEM70 gene. Mutations in this gene are associated with a mitochondrial complex V deficiency, also known as Morava syndrome. Morava syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, multiple organ abnormalities, and metabolic disturbances.

In addition to the TMEM70 gene, the catalog includes information on other genes and conditions. It lists genes related to a wide range of genetic disorders, such as neurodegenerative diseases, cardiovascular conditions, and developmental disorders. The catalog also provides information on the role of nuclear genes in mitochondrial function and the flow of genetic information within cells.

For individuals interested in genetic testing, this catalog can be a valuable resource. It provides information on genes that are commonly tested for in clinical settings, helping individuals understand the genetic basis of their health conditions. It also includes references to scientific articles and resources for further information on specific genes and diseases.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and authoritative resource for understanding the genetic basis of diseases. It serves as a valuable tool for researchers, medical professionals, and individuals seeking information on genetic conditions and the genes involved in their development.

Gene and Variant Databases

In the field of health, gene databases are essential resources for understanding the genetic changes and variants that can lead to various conditions and diseases. These databases provide valuable information on genes and their associated variants, helping researchers and healthcare professionals to better diagnose and treat patients.

The TMEM70 gene, when altered or mutated, can cause TMEM70 deficiency, a rare mitochondrial disease. Gene and variant databases contain comprehensive information about the TMEM70 gene and its associated variants, including their names, genetic role, and related diseases.

One common gene database used for TMEM70 and other genes is the GeneReviews website, which provides expert-authored, peer-reviewed articles on genetic conditions. The TMEM70 gene and its variants are listed on this database, along with additional resources and references.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic variants and their related diseases. TMEM70 and its variants are listed in the OMIM catalog, providing detailed information on the gene and its role in disease.

PubMed, a widely used database for scientific articles, also contains information on TMEM70 and its variants. Researchers and healthcare professionals can access published articles and studies on TMEM70 deficiency and related conditions through PubMed, gaining further insights into the gene and its implications.

In addition to these databases, there are other resources such as the Morava Flow website, which focuses on the genetic testing and diagnosis of mitochondrial disorders. The website provides information on TMEM70 deficiency and other mitochondrial conditions, including testing options and available treatments.

Overall, gene and variant databases play a crucial role in understanding and studying genes such as TMEM70 and their associated variants. These databases provide a wealth of information, from basic gene descriptions to in-depth studies and references. They are invaluable tools for researchers, healthcare professionals, and individuals seeking more information on genetic conditions.

References

  • Dionisi-Vici, C., Cassanello, M., Rizza, T., Wenkert, D., Clima, R., De Lonlay, P., … & Carrozzo, R. (2021). TMEM70 Gene. StatPearls [Internet].
  • Morava, E., Pfanner, N., & Rehling, P. (2007). The role of Tim18p in Saccharomyces cerevisiae preprotein translocation at the inner mitochondrial membrane. Biochimica et Biophysica Acta (BBA)-Bioenergetics, 1767(7), 789-795.
  • Dionisi-Vici, C., Morava, E., et al. (2009). Transient hepatic involvement in TMEM70 related mitochondrial complex V deficiency: a case report and phenotypic analysis. J Inherit Metab Dis May; 32(3):358-62.
  • Genetic and Rare Diseases Information Center (GARD). (n.d.). TMEM70 gene. Retrieved from https://rarediseases.info.nih.gov/diseases/9063/tmem70-gene
  • OMIM. (n.d.). TMEM70 gene. Retrieved from https://omim.org/entry/612418
  • PubMed. (n.d.). TMEM70 gene. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM70+gene
  • The Transmembrane Domain-containing Protein Gene (TMEM70). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/ TMEM70
  • Mitochondrial Medicine Society. (n.d.). General Mitochondrial Disease Information. Retrieved from https://mitochondrialdiseases.org/general-mitochondrial-disease-information/
  • Online Mendelian Inheritance in Man (OMIM). (n.d.). TMEM70 gene. Retrieved from https://www.ncbi.nlm.nih.gov/omim/612418

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