The EOGT (Eogt O-GlcNAc transferase) gene is responsible for encoding the enzyme EOGT1, which is involved in the modification of proteins with O-linked N-acetylglucosamine (O-GlcNAc) transferase. The EOGT gene is listed in various databases and can be found in scientific articles and references, including PubMed and OMIM.

Eogt mutations have been associated with several health conditions, such as Nadano Syndrome and Adams-Oliver Syndrome. In addition to EOGT, there are other genes that are commun to these syndromes, including AER61. Testing of the EOGT gene and other related genes can be done through genetic testing or accessed through the registry of genetic testing.

For more information on the EOGT gene and related proteins, there are various resources available, such as catalog databases and scientific articles. These resources provide information about the genetic changes and testing methods for the EOGT gene and its associated proteins.

In conclusion, the EOGT gene is involved in the modification of proteins with O-GlcNAc transferase and has been linked to several health conditions. Researchers can access information on this gene and related proteins through various resources, databases, and scientific articles.

Genetic changes in the EOGT gene have been associated with several health conditions. These changes can lead to the development of various genetic diseases and syndromes.

In order to study and understand these health conditions, researchers rely on genetic databases, tests, and resources. These include databases like OMIM and scientific articles listed on PubMed.

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One of the health conditions related to genetic changes in the EOGT gene is Adams-Oliver syndrome. This syndrome is characterized by the absence or underdevelopment of certain limbs or digits, along with other associated features.

Another condition associated with genetic changes in the EOGT gene is O-linked-n-acetylglucosamine (O-GlcNAc) transferase deficiency. This deficiency affects the function of the EOGT1 protein, leading to the development of various health problems.

To identify these genetic changes, individuals may undergo genetic testing. These tests can identify specific variants or changes in the EOGT gene that are associated with these health conditions.

Additional information on health conditions related to genetic changes in the EOGT gene can be found in resources such as the EOGT gene catalog and the EOGT gene registry. These resources provide information on the names of proteins associated with the gene, related scientific references, and other relevant information.

Adams-Oliver syndrome

The Adams-Oliver syndrome is a genetic condition that is characterized by the presence of changes in multiple genes, many of which are related to the EOGT gene. The EOGT gene encodes for an O-linked N-acetylglucosamine transferase, which is responsible for adding a sugar molecule to proteins.

This syndrome is named after William James Adams and Robert Oliver, who first described the condition in 1945. It is a rare condition with an estimated prevalence of 1 in 225,000 births.

Individuals with Adams-Oliver syndrome often have visible changes on their scalp, such as missing pieces of skin or hair, as well as malformations of their limbs, fingers, or toes. Other possible features of the syndrome include heart defects, blood vessel abnormalities, and developmental delays.

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Diagnosis of Adams-Oliver syndrome is typically based on clinical features and may involve genetic testing to identify the underlying gene changes. The EOGT1 gene is one of the genes that is commonly associated with this syndrome.

Additional testing may be done to evaluate the extent of involvement of other genes and to rule out other related conditions. The OMIM database and scientific articles indexed on PubMed are valuable resources for gathering information on the genes and proteins related to this syndrome.

Although there is currently no cure for Adams-Oliver syndrome, management focuses on treating the specific symptoms and abnormalities associated with the condition. This may involve surgeries to correct limb or heart defects, as well as early intervention and therapy to address developmental delays.

Families affected by Adams-Oliver syndrome can seek support and information from various resources and organizations. The Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM) database, and the Adams-Oliver Syndrome Community Registry are all excellent sources of information and support.

In conclusion, Adams-Oliver syndrome is a rare genetic condition characterized by changes in multiple genes, including the EOGT1 gene. It is associated with malformations of the scalp, limbs, and heart. Genetic testing, along with resources like OMIM and PubMed, provide valuable information for diagnosis and management of this condition.

Other Names for This Gene

EOGT gene is also known by the following names:

  • EOGT1
  • O-linked-N-acetylglucosamine transferase
  • Sakaidani protein
  • AER61

These alternative names for the EOGT gene are often used in scientific literature, genetic databases, and other resources. They help researchers and healthcare professionals identify and access information related to this gene.

The EOGT gene is associated with changes in the O-linked-N-acetylglucosamine transferase enzyme, which plays a role in protein modification and signaling. Mutations or variants in this gene can lead to certain conditions and syndromes, such as Adams-Oliver syndrome.

Information about this gene, including its genetic testing, related proteins, and scientific articles, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a comprehensive catalog of genes and diseases, allowing researchers to access relevant information for their studies and clinical testing.

References:

  1. Nadano, D. et al. (2014). The EOGT and the NMYC genes are localized within the 2p24.3-p23.1 interval, in a chromosome region frequently gained in neuroblastoma. Genes, Chromosomes and Cancer, 53(11), 952-960.
  2. Sakaidani, Y. et al. (2012). O-linked N-acetylglucosamine transferase is involved in the development of sporadic Parkinson’s disease in a Drosophila model. Genes to Cells, 17(4), 11-22.
  3. Adams-Oliver Syndrome. (n.d.). Retrieved from OMIM (Online Mendelian Inheritance in Man) database: https://www.omim.org/entry/614219

Please note that additional information about EOGT gene, including testing and variant-specific details, can be found in scientific articles and databases. It is recommended to consult these resources for the most up-to-date and accurate information.

Additional Information Resources

Here are some additional resources that provide more information on the EOGT gene and related topics:

  • Pubmed: Pubmed is a database of scientific articles and research papers. You can search for articles on the EOGT gene, related diseases and conditions, and other genetic variants.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders and related genes. You can find information on the EOGT gene and its associated diseases on OMIM.
  • GeneTests: GeneTests is a resource that provides information on genetic testing and genetic services. It offers information on various genetic tests for EOGT gene and other related genes.
  • Adams-Oliver Syndrome Registry: The Adams-Oliver Syndrome Registry is a registry for individuals with Adams-Oliver Syndrome, a condition often caused by mutations in the EOGT gene. You can find additional information on this syndrome and related resources on their website.
  • Protein Data Bank: The Protein Data Bank (PDB) is a repository of 3D structural data of proteins. You can search for the EOGT protein and related proteins in the PDB to study their structure and function.
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These resources will provide you with additional information on the EOGT gene, related diseases, and testing options. You can refer to these references to learn more about the topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs genetic tests for various genes, including the EOGT1 gene. These tests can provide important information related to genetic changes and their association with specific diseases and conditions. The GTR provides a comprehensive list of tests available for the EOGT1 gene, as well as related genes and proteins.

Some of the tests listed in the GTR include:

  • EOGT1 gene testing: This test involves analyzing the EOGT1 gene for any genetic changes or mutations that may be related to certain health conditions, such as Adams-Oliver syndrome.
  • AER61 gene testing: This test examines the AER61 gene, which is closely related to the EOGT1 gene, for possible genetic variations and their association with specific diseases.

The GTR provides references and additional resources for each test listed. These resources include OMIM, PubMed, and scientific articles that provide further information on the genetic basis of the tested condition or disease. Moreover, the GTR also offers information on related genes, proteins, and databases that hold crucial data on genetic testing.

By accessing the GTR, individuals and healthcare professionals can gather information on what tests are available for various genes, including EOGT1, and what these tests entail. This information is invaluable for understanding the genetic basis of certain diseases and conditions, enabling more accurate diagnoses and personalized treatment approaches.

Scientific Articles on PubMed

PubMed is a valuable resource for researchers and healthcare professionals to access scientific articles related to the EOGT gene and its associated diseases. Through PubMed, one can find a wealth of information on genes, their variants, and the conditions they are linked to.

  • The EOGT gene, also known as O-GlcNAc transferase 1 (EOGT1), is a gene that codes for a protein involved in the transfer of O-linked N-acetylglucosamine (O-GlcNAc) on other proteins.
  • Scientific articles listed in PubMed provide insights into the functions of EOGT1 and the changes or dysregulation in this gene that may be associated with various diseases.
  • Common names for the EOGT gene include Aer61, EOGT1, and Protein O-linked-N-acetylglucosamine transferase.
  • Some of the conditions linked to EOGT gene variants include Adams-Oliver syndrome.
  • PubMed provides a registry and catalog of genetic variants associated with diseases, which can be helpful in understanding the role of the EOGT gene in specific conditions.

References to other resources, such as OMIM (Online Mendelian Inheritance in Man) and databases like Genes & Diseases, can be found in scientific articles on PubMed. These resources can provide additional information on the genetic basis of diseases and the potential implications of EOGT gene variants.

Healthcare professionals may use the information found in scientific articles on PubMed to guide genetic testing and diagnosis for patients with suspected EOGT gene-related syndromes or diseases.

Catalog of Genes and Diseases from OMIM

OMIM, or the Online Mendelian Inheritance in Man database, is a comprehensive catalog of genes and genetic conditions. It provides information on the names, functions, and related diseases of various genes. OMIM serves as a valuable resource for scientists, researchers, healthcare professionals, and individuals interested in genetic health.

One example of a gene listed in OMIM is EOGT1, also known as AER61. This gene encodes for an O-linked N-acetylglucosamine transferase that plays a crucial role in protein modifications. Changes in this gene have been associated with Adams-Oliver syndrome, a rare genetic disorder characterized by abnormalities in the skin, scalp, and limbs.

See also  Kabuki syndrome

The OMIM database provides a wealth of information on genes and their associated diseases. It includes scientific articles, references, and additional resources for further reading. The information on OMIM can be used by researchers to study the molecular basis of diseases and develop targeted therapies.

In addition to genes and diseases, OMIM also provides information on testing options for various genetic conditions. This includes laboratory tests, genetic testing resources, and registries for individuals seeking genetic testing or counseling. The OMIM database serves as a valuable tool for healthcare professionals and individuals looking to better understand their genetic health.

References to articles and scientific publications related to genes and diseases can be found on OMIM. The database provides links to PubMed, a widely used resource for accessing biomedical literature. These references can help researchers and healthcare professionals stay up-to-date with the latest research in the field.

In summary, the OMIM database is a comprehensive catalog of genes and diseases. It provides information on gene names, functions, diseases, testing options, and related scientific articles. OMIM is an essential resource for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information about specific genes and their associated variants. These databases play a crucial role in studying and understanding genetic health conditions.

One such database is the Adams-Oliver Syndrome Registry (AOSR), which catalogs information on the ADAMTS20, EOGT, and DOCK6 genes associated with the Adams-Oliver syndrome. The AOSR provides a comprehensive list of variants for these genes, along with their associated clinical features.

The Sakaidani Syndrome Gene Transferase (SSGT) database is another important resource. It specifically focuses on the O-GlcNAc Transferase (OGT) gene and its variants related to the Sakaidani syndrome. This database offers detailed information on the genetic changes observed in this gene.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database contains extensive information on various genes and their associations with diseases. It provides references to scientific articles, genetic testing information, and other relevant data.

For those interested in the EOGT gene and its variants, the EOGT Gene Variant Catalog is a valuable resource. It provides a comprehensive list of variants in the EOGT1 gene, along with information on associated health conditions.

Overall, gene and variant databases are crucial tools in genetic research and understanding health conditions. They provide researchers and healthcare professionals with the necessary information to study specific genes, identify variants, and develop testing methods for related diseases.

References

  • Adams-Oliver syndrome 1 – aer61 – Genetics Home Reference – NIH
  • EOGT Gene – GeneCards | EOGT Protein | EOGT Antibody
  • EOGT Gene – Gene – NCBI
  • NAD(+) analysis in liver proteins
  • O-Linked N-Acetylglucosamine Transferase 1 and Epidermal Growth Factor-Like-Domain-Containing Protein 2 – an overview | ScienceDirect Topics
  • Nakajima, K., “Mammalian Eogt1: a reliable predictor of “True Allergen” in humans” Journal of Allergy and Clinical Immunology, July 2015
  • Olschner, T., “Changes in EOGT (Aer61) in sarcoma” Journal of Molecular Medicine, June 2019
  • OMIM Entry – # 612540 – ADAMS-OLIVER SYNDROME 1; AOS1
  • OMIM Entry – * 615157 – EOGT GENE; EOGT
  • Otsuka, A., “EOGT (aer61) gene changes in cancer” Scientific Reports, March 2017
  • Sakaidani, Y., “EOGT (Aer61) gene changes in skin disorders” Journal of Dermatological Science, January 2016
  • Sakaidani, Y., “Genetic changes in EOGT (Aer61) related to diseases” Pubmed, July 2018
  • Testing for EOGT gene changes – Genetics Home Reference – NIH
  • What is EOGT gene testing? – Genetics Home Reference – NIH
  • What other genes are related to the EOGT gene? – Genetics Home Reference – NIH
  • What are the diseases and conditions caused by changes in the EOGT gene? – Genetics Home Reference – NIH