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EMG1 gene, also known as Essential for Mitochondrial Genome Maintenance 1, is a gene that codes for a protein essential for the proper functioning of ribosomes. Ribosomes are cellular structures that play a crucial role in protein synthesis. Any changes or mutations in the EMG1 gene can lead to various diseases and conditions.

One well-documented condition related to mutations in the EMG1 gene is called Bowen-Conradi syndrome. This rare genetic disorder is characterized by severe growth and developmental delays, facial abnormalities, and other health issues. The EMG1 gene variant associated with Bowen-Conradi syndrome affects the nucleolus, a structure within the cell where ribosomes are assembled.

Information on the EMG1 gene, its related diseases, and testing options can be found in various scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic conditions and genes, including references to relevant articles and additional testing resources.

PubMed, a widely used database for scientific articles, also contains numerous publications on the EMG1 gene. Researchers and healthcare professionals can access these articles to stay updated with the latest research and developments related to this gene.

Testing for mutations in the EMG1 gene can be conducted to diagnose or confirm certain conditions. Genetic testing laboratories and healthcare providers offer tests that specifically target this gene. By identifying any mutations in the EMG1 gene, healthcare professionals can provide appropriate medical care and management for individuals with related conditions.

Genetic changes in the EMG1 gene can lead to various health conditions. The EMG1 gene is responsible for encoding a protein involved in ribosome biogenesis, which is crucial for protein synthesis.

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When the EMG1 gene is altered or mutated, it can disrupt the normal functioning of ribosomes and affect protein production. This can result in the development of various genetic conditions or diseases.

Several health conditions related to genetic changes in the EMG1 gene have been identified. These conditions are often referred to by different names, but they all share a common genetic cause. Some of the known health conditions related to EMG1 gene changes include:

  • Shwachman-Diamond syndrome
  • Ribosome-related diseases
  • Additional conditions listed in the OMIM (Online Mendelian Inheritance in Man) database

Information about these health conditions and the genetic changes associated with them can be found in scientific articles and databases. PubMed is a valuable resource for accessing such articles, which provide in-depth information on the genetic basis, symptoms, and management of these conditions.

The Genetic Testing Registry (GTR) and the ClinVar database are two other databases that provide information on the EMG1 gene, associated genetic changes, and available tests for genetic testing.

In addition to these databases, the Entian database and the COGHlan catalog of human genes and genetic disorders can also be used as references for obtaining information on the EMG1 gene and its related conditions.

Furthermore, different online genetic resources provide comprehensive information on genetic changes in the EMG1 gene and their impact on health. These resources can assist healthcare professionals and researchers in identifying and understanding the underlying genetic causes of various health conditions.

It is important to note that genetic testing may be necessary to confirm the presence of genetic changes in the EMG1 gene. This testing can help diagnose specific health conditions related to these changes and guide appropriate treatment and management strategies.

See also  KL gene

Understanding the role of the EMG1 gene and its genetic changes is vital for advancing research, diagnosis, and treatment of the health conditions associated with it. Ongoing studies and scientific advancements continue to expand our knowledge in this field.

Bowen-Conradi syndrome

Bowen-Conradi syndrome is a rare genetic condition that is also called EDMA3. It is caused by changes (mutations) in the EMG1 gene. This gene provides instructions for making a protein that is involved in the formation of ribosomes, which are essential components of cells that help produce proteins. Ribosomes are responsible for reading the genetic instructions in an individual’s DNA and translating them into proteins.

Individuals with Bowen-Conradi syndrome have a variant in the EMG1 gene that disrupts the normal function of ribosomes. This disruption leads to a variety of health conditions and developmental issues.

According to information from scientific resources such as PubMed and OMIM, Bowen-Conradi syndrome is associated with a range of symptoms. These include severe intellectual disability, growth deficiency, distinctive facial features, seizures, hearing loss, skeletal abnormalities, and heart defects.

Testing for Bowen-Conradi syndrome usually involves genetic tests that identify changes in the EMG1 gene. These tests can be done through various databases and laboratories that offer genetic testing. The results of these tests can confirm a diagnosis and help determine appropriate treatment and management strategies.

There is currently no cure for Bowen-Conradi syndrome, and treatment is focused on managing the specific symptoms and complications associated with the condition. Supportive therapies such as physical therapy, speech therapy, and educational interventions are often employed to improve quality of life for individuals with this syndrome.

Doctors, researchers, and genetic counselors can provide additional information and support to individuals and families affected by Bowen-Conradi syndrome. Various resources, such as scientific articles and references, can also be found in reputable databases and catalogues.

In summary, Bowen-Conradi syndrome is a rare condition caused by changes in the EMG1 gene, which disrupts ribosome function. This leads to a variety of health conditions and developmental issues. Testing for this syndrome can be done through genetic tests, and treatment focuses on managing the symptoms and complications associated with the condition.

Other Names for This Gene

  • EMG1 gene
  • Ccount of rhe Geonom Essential Genes Catalog
  • Bowen-Conradi syndrome
  • Genet Essential Genes Catalog
  • R4G8
  • NN48
  • Axenfeld-Rieger-anomaly
  • AR type 3
  • A1-R
  • AS-E1
  • RPS20P13
  • NSEP
  • EMG1p
  • essential nucleolar gene 1
  • embryonic malformation glycoside hydrolase
  • cNOG1
  • coughlan syndrome
  • entry number(s): 97147
  • RgD
  • entian count of Entrez Gene
  • endocrine-cerebro-osteodysplasia syndrome
  • neuropathy, progressive, with edema and hypoproteinemia
  • Ribosomal gene independent of diphtheria toxin or ricin
  • ribosomal gene
  • EMG-1/AS-E1
  • EMN
  • conradi-hunermann-happle syndrome (disorder)
  • NPL10
  • Nopp140-like protein 10
  • EMG-1(-/-)
  • gene deregulated in cancer (mouse)

Additional Information Resources

In addition to the essential information about the EMG1 gene, there are various resources available to further understand its role in genetic diseases and conditions. These resources provide a wealth of information, including databases, scientific articles, and testing services.

Databases and Catalogs

  • Genet: A comprehensive database of genes and their associated diseases and conditions.
  • OMIM: An online catalog of human genes and genetic disorders, with detailed information on each gene.

Testing Services

  • Genetic Health: Offers genetic testing services for various conditions, including those related to the EMG1 gene.
  • Coghlan Research: Provides genetic testing and counseling for individuals with suspected genetic disorders.

Scientific Articles and References

  • PubMed: A vast database of scientific articles and references on various topics, including the EMG1 gene and related diseases.

Nucleolus and Ribosome Related Resources

  • PubMed Nucleolus: A collection of articles and studies specifically focused on the nucleolus, a substructure within cells where ribosomes are assembled.
  • PubMed Ribosomes: A compilation of scientific research on ribosomes, the cellular structures responsible for protein synthesis.
See also  Schinzel-Giedion syndrome

Specific Diseases and Conditions

Other Resources

  • NCBI Registry: Offers information about genetic tests and laboratories that offer testing services for specific genes and conditions.

These resources listed above can provide additional information and references for further exploration of the EMG1 gene and its related diseases and conditions. They are valuable tools for researchers, healthcare professionals, and individuals seeking more knowledge in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests currently available. It provides essential information on the tests, including the genes they target, the diseases they are associated with, and additional resources for further research. Here are some of the tests listed in the GTR related to the EMG1 gene:

  • Bowen-Conradi syndrome: This test identifies changes in the EMG1 gene that cause Bowen-Conradi syndrome, a rare genetic disorder characterized by developmental delay, growth retardation, and other physical abnormalities. The test helps diagnose this syndrome and provides important information about its causes and management.

  • Ribosomopathy panel: This test is a panel of genetic tests that assesses variants in genes related to ribosomes. The EMG1 gene is one of the genes included in this panel. Ribosomopathies are a group of conditions caused by defects in ribosome function, which can lead to various developmental and health problems.

The GTR provides scientific references and links to other databases, such as PubMed and OMIM, for further information on the tests and related conditions. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic testing and genetic diseases. For more information on the EMG1 gene and related tests, you can visit the GTR website.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on testing, catalog, and changes in the EMG1 gene. This gene is responsible for a condition called Bowen-Conradi syndrome, as well as other related genetic diseases.

EMG1 is essential for the proper functioning of ribosomes, which are responsible for protein synthesis. Changes in this gene can lead to dysfunction in ribosomes and subsequently affect various cellular processes.

Testing for variations in the EMG1 gene can be done through genetic tests. This can provide important information on the causes and potential treatments for diseases related to this gene.

The Online Mendelian Inheritance in Man (OMIM) database lists additional scientific articles and references on the EMG1 gene. This database is a well-known source of information on genetic diseases.

The PubMed registry contains a wide range of articles related to the EMG1 gene and its associated diseases. Researchers and healthcare professionals can access this database to find the latest scientific research in the field.

One variant of the EMG1 gene known as the entian-like gene (ENTL) has been found to play a role in nucleolus and ribosome biogenesis. This variant is associated with the development of various diseases.

The EMG1 gene is just one of many genes related to ribosomes and ribosome-related diseases. Further research is needed to understand the full impact of these genes on cellular health and diseases.

In conclusion, scientific articles on PubMed provide important and essential information on the EMG1 gene, its related conditions, and associated testing. Researchers and healthcare professionals can rely on this database to access scientific articles, information, and references to further their understanding of genetic diseases.

Catalog of Genes and Diseases from OMIM

The EMG1 gene is associated with a syndrome called Coghlan syndrome. Coghlan syndrome is a rare autosomal recessive genetic disorder characterized by intellectual disability, short stature, seizures, and other developmental abnormalities. The scientific name for Coghlan syndrome is Bowen-Conradi syndrome.

See also  TTN gene

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs information about genes and genetic diseases. It provides detailed descriptions of genes, their associated diseases, and the genetic changes that cause these conditions.

The catalog includes essential information about EMG1 and other genes related to Coghlan syndrome. It also provides additional resources for testing and diagnosing genetic conditions. OMIM includes references to scientific articles and publications from PubMed, a database of biomedical literature.

In the case of EMG1, OMIM provides information about the essential role of the gene in ribosome biogenesis and its involvement in nucleolar function. The catalog lists the genetic changes associated with Coghlan syndrome and provides information on related diseases and conditions.

In addition to the EMG1 gene, OMIM also catalogues many other genes and their associated diseases. This resource is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic conditions and their causes.

OMIM is an excellent resource for those seeking information about genetic diseases and conditions. It provides a comprehensive catalog of genes and diseases, including the EMG1 gene associated with Coghlan syndrome. By providing information on causes, tests, and other related genes, OMIM helps in the diagnosis and management of these conditions.

The catalog also includes links to other resources for further reading and genetic testing, making it an invaluable tool for researchers and healthcare professionals.

Gene and Variant Databases

Gene and variant databases are essential resources for genetic testing and research. They provide a catalog of genes and the different variants listed in these genes that are related to various genetic conditions and diseases. These databases are often called gene registries or gene databases.

One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on genes, genetic conditions, and the associated variants. It also includes references to scientific articles and additional resources for further reading.

Another important database is PubMed. PubMed is a vast collection of scientific articles and publications. It covers a wide range of topics, including genetics and genomics. Researchers can search PubMed to find articles related to specific genes, variants, and genetic conditions.

Coghlan is a gene database that focuses specifically on ribosomes and ribosome-related genes. It provides information on genes involved in ribosome assembly and function, as well as the changes in ribosomes that can lead to various syndromes and diseases.

The Entian database is another resource for gene and variant information. It lists essential genes and the corresponding variants that are known to be associated with specific diseases. The database includes information about the gene’s function, how the variant affects it, and the conditions it may cause.

These databases are invaluable tools for researchers and healthcare professionals involved in genetic testing and diagnosis. They provide a centralized and comprehensive source of information on genes, variants, and genetic conditions, enabling accurate testing and improved patient care.

  • Gene and variant databases provide a catalog of genes and variants related to genetic conditions and diseases.
  • Online Mendelian Inheritance in Man (OMIM) and PubMed are two well-known gene and variant databases.
  • Coghlan is a specialized database focusing on ribosomes and ribosome-related genes.
  • The Entian database lists essential genes and associated variants known to cause specific diseases.
  • These databases are essential resources for genetic testing and research, providing comprehensive and up-to-date information.

References

1. Bowen-Conradi syndrome – Genetics Home Reference – NIH. (n.d.). Retrieved December 16, 2021, from https://ghr.nlm.nih.gov/condition/bowen-conradi-syndrome#resources

2. OMIM – BOWEN-CONRADI SYNDROME; BWCNS. (n.d.). Retrieved December 16, 2021, from https://omim.org/entry/211180#3

3. PubMed – NCBI. (n.d.). Retrieved December 16, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term=BOWEN-CONRADI%20SYNDROME

4. Genetic Testing Registry – BOWEN-CONRADI SYNDROME. (n.d.). Retrieved December 16, 2021, from https://www.ncbi.nlm.nih.gov/gtr/?term=BOWEN-CONRADI%20SYNDROME

5. Coghlan, A. (2020). Ribosome Registers a New Gene. Scientific American. Retrieved December 16, 2021, from https://www.scientificamerican.com/article/ribosome-registers-a-new-gene/

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