GFM1 is a scientific name for the efg1 gene. This gene is involved in the process of phosphorylation, which is essential for the energy deficiency in cells. Phosphorylation is the process of adding a phosphate group to a molecule, and it plays a crucial role in the oxidative phosphorylation that occurs in mitochondria.

Deficiency in GFM1 can lead to a combined oxidative phosphorylation deficiency (COXPD1), which is a rare genetic syndrome. This condition is characterized by the impaired function of ribosomes, the cellular machinery responsible for protein synthesis. As a result, various other genes and proteins may be affected, leading to a range of health problems and conditions.

Information about the GFM1 gene, including its function, associated diseases, and related genes, can be found in various scientific resources such as OMIM and PubMed. These databases provide detailed articles, references, and additional resources for further reading.

For further information on the GFM1 gene and related conditions, the Genetic and Rare Diseases Information Center (GARD) can be a valuable resource. GARD provides a comprehensive catalog of genetic diseases and conditions, including COXPD1 and other conditions associated with GFM1 deficiency.

Health Conditions Related to Genetic Changes

Genetic changes in the GFM1 gene have been found to be related to several health conditions. These changes can result in the development of various syndromes and diseases.

One condition associated with genetic changes in the GFM1 gene is Leigh syndrome. Leigh syndrome is a rare neurological disorder characterized by the progressive loss of mental and movement abilities. It is caused by an oxidative phosphorylation deficiency, which leads to a lack of energy production in the cells.

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Tests for GFM1 gene mutations can be combined with other genetic tests to identify individuals at risk for Leigh syndrome and other related conditions. These tests can be conducted to analyze the specific changes in the GFM1 gene and their impact on the phosphorylation process.

Additional information on genetic changes in the GFM1 gene and related health conditions can be obtained from databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide articles, scientific references, and other information on genes, proteins, and diseases.

The OMIM database is a comprehensive catalog of human genes and genetic disorders. It includes variant names, gene descriptions, and information on the associated conditions. PubMed is a database of scientific articles that can provide further insights into the genetic changes and their effects.

In this context, the GFM1 gene is related to the energy production process within cells. It plays a role in the assembly of proteins in the ribosomes and is critical for the proper function of the oxidative phosphorylation system.

The Registry of Genes and Phenotypes (RGP) is another useful resource for obtaining information on genetic changes and associated conditions. The RGP catalog includes information on gene variants, disease classifications, and available testing methods.

In conclusion, genetic changes in the GFM1 gene can result in various health conditions, such as Leigh syndrome. Testing for these changes can be conducted using resources such as OMIM, PubMed, and the RGP. By understanding these genetic alterations, researchers can develop targeted interventions and treatments for individuals affected by these conditions.

Combined oxidative phosphorylation deficiency 1

Combined oxidative phosphorylation deficiency 1 is a genetic condition caused by mutations in the GFM1 gene. It is also known as COXPD1 or the GFM1-related syndrome. The GFM1 gene provides instructions for making a protein called elongation factor G1 (EFG1). This protein is involved in the process of protein synthesis within ribosomes.

Patients with combined oxidative phosphorylation deficiency 1 have mutations in the GFM1 gene that impair the function of EFG1. As a result, the energy production process known as oxidative phosphorylation is disrupted. This leads to a wide range of symptoms and malfunctions in various organs and systems in the body.

Combined oxidative phosphorylation deficiency 1 is a rare condition, and the exact prevalence is unknown. However, information on the condition can be found in various resources such as medical databases, research articles, and genetic testing registries.

Symptoms and Related Conditions

The symptoms of combined oxidative phosphorylation deficiency 1 can vary widely among affected individuals. Common signs and symptoms include Leigh syndrome, a progressive neurological disorder, and lactic acidosis, a buildup of lactic acid in the body. Additional symptoms may include developmental delay, weak muscle tone, heart abnormalities, and respiratory problems.

There are other genetic conditions and related syndromes that can also be caused by mutations in different genes involved in oxidative phosphorylation. These conditions may have similar symptoms and can be difficult to distinguish from combined oxidative phosphorylation deficiency 1. Genetic testing is necessary to confirm the presence of mutations in the GFM1 gene.

Genetic Testing and Variant Databases

Genetic testing can be used for the diagnosis of combined oxidative phosphorylation deficiency 1. This involves analyzing the GFM1 gene for mutations or changes in the DNA sequence. The results of genetic testing can help confirm the presence of the condition and guide treatment decisions.

There are various genetic variant databases and resources available that provide information on the GFM1 gene and its related variants. These databases can be accessed to find more information, references, and additional studies on the gene and related conditions.

References:

1. Kohda M, Tokuzawa Y, Kishita Y, et al. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 2016;12(1):e1005679. doi:10.1371/journal.pgen.1005679
2. Combined oxidative phosphorylation deficiency 1 – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1
3. Combined oxidative phosphorylation deficiency 1 – OMIM. Retrieved from https://omim.org/entry/609060
4. Combined oxidative phosphorylation deficiency 1 – Orphanet. Retrieved from https://www.orpha.net
5. Combined oxidative phosphorylation deficiency 1 – GeneReviews – NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK3790/

Leigh syndrome

Leigh syndrome is a rare genetic condition characterized by a progressive loss of mental and movement abilities. It is caused by mutations in genes involved in oxidative phosphorylation, the process by which energy is generated within the mitochondria of cells. The GFM1 gene is one of the genes associated with Leigh syndrome.

Articles and scientific literature related to Leigh syndrome can be found in databases such as PubMed and OMIM. These resources provide information on the genetic changes, symptoms, and testing options for this condition. The OMIM database also lists other genes related to Leigh syndrome, offering additional references for further research.

Genetic testing can help identify the specific variant in the GFM1 gene or other genes that may be responsible for Leigh syndrome. This testing can be done through specialized labs or clinics that have the necessary equipment and expertise. Results from such tests can provide valuable information for diagnosis, prognosis, and potential treatment options for patients.

In addition to the GFM1 gene, other genes involved in Leigh syndrome impact the function of ribosomes, which are molecular machines responsible for protein synthesis. Changes in these genes can disrupt the production of proteins needed for normal cellular functions and energy production.

The combined deficiencies in energy production and oxidative phosphorylation lead to the onset and progression of Leigh syndrome. The symptoms of this condition may vary, but often include motor skill regression, developmental delays, seizures, and muscle weakness.

The Leigh syndrome registry is a valuable resource for gathering information on patients with the condition. It serves as a catalog of cases, allowing researchers to gather data for studies and clinical trials. The registry also helps connect patients and their families with healthcare professionals and support groups.

In conclusion, Leigh syndrome is a rare genetic condition caused by mutations in genes involved in oxidative phosphorylation. The GFM1 gene is one of the genes associated with this syndrome, affecting ribosomal function and protein production. Genetic testing, databases, and registry resources play a crucial role in understanding and managing this condition.

Other Names for This Gene

The GFM1 gene is also known by other names. Some of the combined names for this gene are:

• Essential for mitochondrial translation elongation factor G1
• Elongation factor G1
• EF-G1
• EG1

In addition to these combined names, the GFM1 gene is also listed under different names in various scientific resources and databases. These alternative gene names are:

• Gene ID: 85476
• OMIM: 603041
• PubMed: 12477932

Furthermore, there are other genes and proteins related to GFM1 that are involved in various conditions and diseases. Some of these related genes and proteins include:

• GFM2 gene
• Leigh syndrome
• EF-G2 protein
• Ribosomes

Testing for changes or variants in the GFM1 gene can be done through genetic testing. This testing process can provide valuable information about the health and genetic condition of individuals. Additionally, there are scientific articles, scientific databases, and genetic testing resources available for further reference on GFM1 gene-related topics.

1. GFM1 gene Phosphorylation
2. Oxidative phosphorylation
3. Gene-disease associations
4. GFM1 deficiency
5. GFM1 gene mutations

In summary, the GFM1 gene is known by different names and is associated with various genes, conditions, and proteins. Testing for changes in this gene can provide valuable information for understanding genetic conditions and diseases.

Additional Information Resources

In addition to the information provided in this catalog about the GFM1 gene, there are several other resources available that can provide further details and related information.

• Online Mendelian Inheritance in Man (OMIM): This is an online database that provides comprehensive information about genetic conditions and genes. It includes detailed information about the GFM1 gene, its associated genetic disorders, and the molecular changes that have been observed.
• PubMed: PubMed is a widely used database that contains a vast collection of scientific articles and references. It includes numerous articles related to the GFM1 gene, its role in phosphorylation and energy metabolism, and its involvement in various conditions, such as Leigh syndrome and combined oxidative phosphorylation deficiency.
• Genetic Testing Registries: There are several genetic testing registries available that offer information about the availability and characteristics of tests for the GFM1 gene. These registries can provide details about the specific tests that are offered, the laboratories performing the tests, and any associated cost or insurance coverage.
• Databases of Genetic Conditions: There are databases dedicated to cataloging genetic conditions and the associated genes. These resources can provide information about the specific genetic diseases and conditions that are linked to the GFM1 gene, as well as any known variant names or synonyms.

Overall, these additional resources can provide a wealth of information about the GFM1 gene, its role in phosphorylation and energy production, and its association with various genetic diseases and conditions. They can be valuable tools for researchers, healthcare professionals, and individuals seeking to learn more about this gene and its related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests for specific genes, including the GFM1 gene. The GTR is a resource for healthcare professionals and researchers to find information on the availability and utility of genetic tests.

Genetic testing for the GFM1 gene is available through various laboratories and healthcare providers. These tests can help identify changes or variants in the GFM1 gene that may be associated with specific health conditions or diseases.

Genetic tests listed in the GTR for the GFM1 gene can provide information on several conditions, such as:

• Leigh syndrome
• Oxidative phosphorylation deficiency
• EFG1 mitochondrial ribosomes deficiency
• Other related conditions

These tests analyze the genetic material to detect changes or mutations in the GFM1 gene. The GTR provides detailed information on the specific tests available, their purpose, and their clinical validity.

Additional resources, such as scientific articles, catalog references, and information from other databases like OMIM and PubMed, can also be found in the GTR for the GFM1 gene. These resources can provide further insights into the role of the GFM1 gene in various health conditions.

Genetic testing for the GFM1 gene can help in understanding the molecular processes and energy production in the cells. The GFM1 gene is involved in the phosphorylation of proteins and plays a crucial role in the functioning of mitochondrial ribosomes.

In conclusion, the GTR provides a comprehensive catalog of genetic tests available for the GFM1 gene. These tests can help identify genetic changes or variants associated with various health conditions. Healthcare professionals and researchers can utilize the GTR and its related resources to gain a better understanding of the role of the GFM1 gene in different diseases and molecular processes.

Scientific Articles on PubMed

Scientific articles on PubMed provide a comprehensive catalog of research related to the GFM1 gene. The GFM1 gene, along with other genes and proteins, plays a critical role in the process of ribosomes phosphorylation. Ribosomes phosphorylation is essential for the energy production process in cells.

This gene has been found to be associated with GFM1 deficiency, a genetic condition that affects the phosphorylation of ribosomes. Scientific articles on PubMed provide valuable information about this deficiency and its related diseases, such as Leigh syndrome.

Researchers have conducted various studies to understand the role of the GFM1 gene and its phosphorylation process in different health conditions. These articles can be a valuable resource for scientists, doctors, and researchers who are studying this gene or related conditions.

In addition to scientific articles, PubMed also provides references to other databases and resources that contain relevant information on the GFM1 gene and its phosphorylation process. This includes genetic databases, testing resources, and registries for specific conditions.

When searching for articles on PubMed, it is important to use the alternate names and variant names for the GFM1 gene, such as EFG1. This will ensure that all relevant articles and information are included in the search results.

Researchers can also combine information from multiple articles to gain a deeper understanding of the GFM1 gene and its role in various health conditions. This combined knowledge can lead to further advancements in the field of genetics and provide insights into potential treatments or interventions for GFM1 deficiency and related diseases.

Overall, scientific articles on PubMed are a valuable source of information for researchers and healthcare professionals interested in understanding the GFM1 gene and its phosphorylation process. They offer a comprehensive catalog of research articles, covering a wide range of topics related to this gene and its implications for human health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a registry of genes and genetic disorders that provides comprehensive information on the molecular basis of human health and disease. It serves as a valuable resource for scientists, researchers, and healthcare professionals.

OMIM catalogues genes and genetic disorders associated with various conditions, including but not limited to Leigh syndrome and oxidative phosphorylation deficiency. These conditions are related to defects in the energy production process, which involves ribosomes, proteins, and other molecules.

The catalog lists genes and their associated diseases, along with references to scientific articles and other databases for further exploration and testing. It provides detailed information on the genetic changes that occur in these conditions and offers additional resources for variant testing and diagnosis.

For each gene, OMIM provides detailed information on its function, related diseases, and other scientific research that has been conducted. The catalog also includes a list of alternate gene names, allowing researchers and healthcare professionals to easily find relevant information.

OMIM’s catalog is constantly updated with new information from various sources, including PubMed. This ensures that the database remains current and reflects the latest scientific findings.

Overall, OMIM’s catalog of genes and diseases provides a comprehensive and reliable resource for researchers and healthcare professionals seeking information on the genetic basis of various conditions. It serves as a valuable tool in understanding the underlying biology and potential treatment options for these disorders.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetics by providing a comprehensive collection of information on genes and their associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases and conditions.

One of the key gene databases is the GFM1 gene database, which focuses on the GFM1 gene and its associated variants. The GFM1 gene encodes a protein that plays a vital role in the process of protein synthesis by facilitating the translocation of ribosomes, the molecular machines responsible for synthesizing proteins, along the messenger RNA strand.

The GFM1 gene is related to various health conditions, including Leigh syndrome, a severe neurological disorder characterized by progressive neurodegeneration. This gene has also been found to be associated with combined oxidative phosphorylation deficiency, a group of diseases caused by abnormalities in the energy generation process in cells.

The GFM1 gene and its variants are listed in several gene and variant databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide detailed information on the genetic changes associated with this gene, including the specific variant, its impact on protein function, and associated diseases.

In addition to the GFM1 gene database, there are several other databases that provide information on genes and variants associated with various conditions. These databases include resources such as the Genetic Testing Registry, which provides information on genetic tests available for specific conditions, and the Clinical Pharmacogenetics Implementation Consortium (CPIC) database, which focuses on genetic variants impacting drug response.

These gene and variant databases are valuable tools for researchers and clinicians, as they provide a centralized and curated source of information on genes and their associated variants. They allow scientists to access the latest scientific articles, references, and testing resources, facilitating further research and understanding of genetic conditions.

Overall, gene and variant databases play a critical role in advancing our understanding of genes, their variants, and their impact on health and disease. They provide a comprehensive catalog of genetic information, aiding in the diagnosis, testing, and treatment of various conditions.

References

• Online Mendelian Inheritance in Man (OMIM): a comprehensive compendium of human genes and genetic phenotypes. Available at: https://www.omim.org/
• PubMed: a database of scientific articles on biomedical topics. Available at: https://pubmed.ncbi.nlm.nih.gov/
• Genetic Testing Registry (GTR): a central location for information on genetic tests for human genes and genetic conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr/
• EGF1 gene: information and resources on the EFG1 gene. Available at: [insert link here]
• Other related genes: a list of other genes related to GFM1. Available at: [insert link here]
• Combined Databases: a catalog of databases containing information on genes and genetic variants. Available at: [insert link here]
• Phosphorylation of GFM1: research articles and resources on the phosphorylation process of GFM1. Available at: [insert link here]
• Genetic changes and conditions: a list of genetic changes and related conditions associated with GFM1. Available at: [insert link here]
• Leigh Syndrome: information and resources on Leigh Syndrome, a condition related to GFM1 deficiency. Available at: [insert link here]
• Oxidative energy process: articles and resources on the oxidative energy process and its relation to GFM1. Available at: [insert link here]