UBE3B gene

The UBE3B gene is a gene that is associated with UBE3B syndrome. This gene is tagged as “UBE3B” and can be found on chromosome 12. UBE3B syndrome is a rare genetic disorder that is caused by mutations or damage to the UBE3B gene.

The UBE3B gene is responsible for producing proteins that are involved in the ubiquitin-proteasome system. This system is a key pathway for protein degradation and plays a crucial role in maintaining normal cellular function. Changes or mutations in the UBE3B gene can disrupt the ubiquitin-proteasome system and lead to various conditions and disorders.

There have been several scientific articles and studies published on the UBE3B gene, and it is listed in various genetic databases and resources. The UBE3B gene is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genes and genetic diseases. The UBE3B gene is also listed in the Genetests registry, which provides information on genetic testing for various conditions.

Researchers and scientists continue to study the UBE3B gene and its role in various conditions and diseases. They are looking for additional changes or variants in the gene that may be associated with different disorders. References to the UBE3B gene and related scientific articles can be found on the PubMed database, a comprehensive resource for scientific literature in the field of medicine and genetics.

Health Conditions Related to Genetic Changes

The UBE3B gene encodes a protein that is involved in the ubiquitin-proteasome system, which plays a critical role in protein degradation. In this system, proteins are tagged with ubiquitin and targeted for degradation in the proteasome. Genetic changes in the UBE3B gene can lead to alterations in the function of this protein, which can have significant effects on health.

Other Information:

  • The UBE3B gene is listed in the OMIM database, which provides information on genes associated with diseases.
  • The registry of genes and genetic testing laboratories (GTR) contains additional information on this gene and its associated health conditions.
  • The UBE3B gene is also mentioned in scientific articles and references from PubMed, a database of biomedical literature.
  • The Seattle Children’s Hospital provides resources and testing for genetic conditions related to this gene.

Health Conditions:

  • Oculocerebrofacial syndrome: This syndrome is caused by changes in the UBE3B gene and is characterized by developmental delay, intellectual disability, facial abnormalities, and other features.
  • Kaufman oculocerebrofacial syndrome: This syndrome is also caused by changes in the UBE3B gene and has similar symptoms to the oculocerebrofacial syndrome.
  • Loss of function variants in the UBE3B gene: These genetic changes can lead to a range of health conditions and may manifest as intellectual disability, developmental delay, facial dysmorphisms, and other abnormalities.

Testing and Resources:

  • Genetic testing for UBE3B gene changes is available through various laboratories and healthcare providers.
  • The resources provided by the UBE3B gene testing laboratories can offer more information on the specific tests available and the associated health conditions.
  • Additional resources for genetic testing and related health conditions can be found through the GTR and PubMed databases.

It is important to consult with healthcare professionals and genetic counselors for specific information and guidance regarding health conditions associated with genetic changes in the UBE3B gene.

Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome is a rare genetic disorder caused by mutations in the UBE3B gene. The UBE3B gene provides instructions for making a protein called ubiquitin-proteasome system (UPS) component, involved in the degradation of damaged or unwanted proteins in the cell.

Loss-of-function mutations in the UBE3B gene result in a decrease or absence of functional ubiquitin-proteasome system proteins. This disruption in the protein degradation system leads to an accumulation of damaged proteins, which can have various effects on the development and function of multiple organs and tissues.

Kaufman oculocerebrofacial syndrome is characterized by a range of symptoms, including intellectual disability, developmental delay, facial dysmorphism (abnormal facial features), microcephaly (small head size), and eye abnormalities such as coloboma (a gap or split in the structures of the eye).

Diagnosis of Kaufman oculocerebrofacial syndrome is typically based on clinical findings and genetic testing. Genetic testing can identify mutations in the UBE3B gene that are associated with the syndrome. Additional testing, such as imaging studies and developmental assessments, may be done to evaluate the extent of organ involvement.

Resources for information on Kaufman oculocerebrofacial syndrome and related genes can be found in databases such as OMIM, GeneReviews, and the Online Mendelian Inheritance in Man (OMIM) catalog. PubMed, a database of scientific articles, also provides references for research articles on this syndrome. The Seattle Children’s Hospital website and the registry of the National Institutes of Health (NIH) may also provide information on the condition.

In summary, Kaufman oculocerebrofacial syndrome is a rare genetic disorder caused by changes in the UBE3B gene, resulting in a disruption of the ubiquitin-proteasome system. This leads to the accumulation of damaged proteins and affects the development and function of multiple organs and tissues. Diagnosis is based on clinical findings and genetic testing, and resources for more information can be found in various databases and registries.

Other Names for This Gene

The UBE3B gene is also known by several other names, including:

  • Oculocerebrofacial syndrome, Kaufman type
  • Kaufman oculocerebrofacial syndrome
  • Kaufman-McKusick syndrome
  • OMIM: 608047

This gene is cataloged in various genetic databases and resources, providing additional information about its functions, changes, and related conditions. Some of the databases and resources where the UBE3B gene is listed include:

  1. The Seattle Children’s Hospital Gene Variation frequency references
  2. The Genetests registry
  3. PUBMED, which contains scientific articles and publications on the gene and related topics
  4. The OMIM database, which provides information on genetic disorders and associated genes
  5. The Genecards database, which offers comprehensive information on genes, proteins, and associated diseases
  6. The Ubiquitin-Proteasome database, which focuses on genes and proteins involved in the ubiquitin-proteasome system
See Also:  Perry syndrome

Testing for variants or changes in the UBE3B gene is available through various genetic testing laboratories and clinics. The results of these tests can help diagnose and manage genetic conditions associated with UBE3B gene abnormalities, such as oculocerebrofacial syndrome, Kaufman type.

It is important to consult with healthcare professionals and genetic counselors for more comprehensive information and guidance related to the UBE3B gene and specific genetic conditions.

Additional Information Resources

Here is a list of additional resources where you can find more information about the UBE3B gene:

  • Databases: You can find information about the UBE3B gene in various genetic databases, such as OMIM, HGNC, and GeneCards.
  • PubMed: PubMed is a popular database for scientific articles. By searching for “UBE3B gene” in PubMed, you can find a list of published articles related to this gene.
  • Registry of Genetic Diseases: The registry of genetic diseases provides information about different genetic conditions, including those related to the UBE3B gene.
  • Genetic Testing: If you suspect that you or someone you know has a genetic condition related to the UBE3B gene, genetic testing can be helpful. Talk to a healthcare professional or genetic counselor for more information.
  • Scientific Catalog: The scientific catalog maintained by Kaufman et al. provides detailed information about genes and their variants, including the UBE3B gene.
  • Oculocerebrofacial Syndrome: The UBE3B gene is associated with a rare genetic disorder called oculocerebrofacial syndrome. Search for this syndrome to find more information about the specific condition.
  • Ubiquitin and Proteasome System: The UBE3B gene is part of the ubiquitin-proteasome system, which is involved in protein degradation. Learning more about this system can help you understand the role of the UBE3B gene.
  • Seattle Genet: The Seattle Genet website provides resources and information related to genetic conditions and genetic testing.
  • Changes in Genes: Understanding how changes in genes, including the UBE3B gene, can affect health can provide valuable insights into genetic conditions.
  • References: Check the references section of scientific articles or books to find more sources on the UBE3B gene.

These resources can provide you with additional information about the UBE3B gene and related conditions. It is always important to consult trusted sources and healthcare professionals for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests for a variety of genetic diseases and conditions. It provides a comprehensive and up-to-date resource for healthcare professionals and researchers to find information on available genetic tests.

One of the genes listed in the GTR is the UBE3B gene. Mutations in this gene have been associated with oculocerebrofacial syndrome, Kaufman type (OCFCK), as well as other conditions.

The UBE3B gene is involved in the ubiquitin-proteasome system, which is responsible for targeting damaged or unwanted proteins for degradation. Changes in this system can lead to the accumulation of abnormal proteins and the development of various genetic diseases.

Testing for variants in the UBE3B gene can help diagnose and identify individuals at risk for oculocerebrofacial syndrome and other related conditions. These tests can be helpful in providing patients with appropriate medical management and counseling.

Tests listed in the GTR provide information on the specific gene variant tested, the name of the test, and the laboratory offering the test. The GTR also includes references to scientific articles and other resources related to the gene and the associated conditions.

Additional information on UBE3B gene variants and related genes can be found in databases like OMIM and PubMed. These resources provide a wealth of scientific articles and references for further exploration.

Tests Listed in the Genetic Testing Registry for UBE3B Gene
Gene Variant Test Name Laboratory
UBE3B Oculocerebrofacial Syndrome, Kaufman Type Seattle Children’s Hospital, Department of Laboratory Medicine
UBE3B UBE3B Gene Sequencing Kubisch Laboratory at the Institute of Human Genetics, University of Cologne

Scientific Articles on PubMed

To investigate the UBE3B gene, researchers from the University of Washington in Seattle gathered information from various health databases, including the PubMed catalog. PubMed, a database of scientific articles, is an invaluable resource for researchers studying genetic conditions and related diseases.

Dr. Kubisch and his team used the PubMed database to search for articles on the UBE3B gene and its associated proteins. They utilized a system of tagged names and keywords to retrieve relevant scientific articles. Their research focused on the genetic changes and loss of function caused by variants in the UBE3B gene.

The PubMed database provided a wealth of information on the UBE3B gene, including references to other related genes and diseases. Researchers were able to access additional articles and resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Oculocerebrofacial syndrome genetic registry, to further investigate this gene and its implications.

Scientific articles listed on PubMed explored various aspects of the UBE3B gene, including its role in the ubiquitin-proteasome system and the testing methods used to identify genetic changes. The UBE3B gene was found to be associated with oculocerebrofacial syndrome and other conditions, highlighting the importance of genetic testing and research in understanding these diseases.

See Also:  Congenital afibrinogenemia

In conclusion, PubMed is a valuable tool for researchers studying the UBE3B gene and related conditions. Its vast collection of scientific articles provides essential information on gene variants, protein interactions, and disease associations. Scientists like Dr. Kubisch and his team rely on PubMed to access the latest research and contribute to our understanding of genetic disorders.

Catalog of Genes and Diseases from OMIM

The UBE3B gene, also known as the Ubiquitin Protein Ligase E3B gene, is a genetic gene that plays a crucial role in the ubiquitin-proteasome system. It is tagged as a Kaufman oculocerebrofacial syndrome-related gene.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic conditions. It provides information on various genes and associated diseases. The UBE3B gene is listed in the OMIM registry, and its related diseases and conditions can be found there.

OMIM provides references to other scientific articles and databases for additional information on the UBE3B gene. These resources can be helpful for genetic testing, variant analysis, and understanding the changes and impacts of UBE3B-related conditions.

The UBE3B gene is associated with Kaufman oculocerebrofacial syndrome, a genetic disorder characterized by intellectual disability, distinctive facial features, and other health problems. OMIM provides a comprehensive overview of this syndrome, including clinical features, genetic changes, and related articles.

Through OMIM, researchers and healthcare professionals can access essential information on genes, diseases, and their relationship. This database serves as a valuable resource for understanding genetic conditions and their underlying genetic causes.

Key Points about Catalog of Genes and Diseases from OMIM
Key Information
The UBE3B gene is tagged as a Kaufman oculocerebrofacial syndrome-related gene.
OMIM provides information on genes and associated diseases.
References to scientific articles and other databases are available.
UBE3B gene is linked to Kaufman oculocerebrofacial syndrome.
OMIM serves as a valuable resource for genetic testing and variant analysis.
  • OMIM catalog includes genes and diseases from various genetic conditions.
  • Researchers and healthcare professionals can access OMIM for comprehensive information on genetic disorders.
  • OMIM is a trusted source for understanding genetic conditions and their genetic causes.
  • Genetic changes in UBE3B and associated diseases can be studied through OMIM resources.

Overall, OMIM provides a reliable and comprehensive catalog of genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians working on gene-related diseases. These databases provide information on the genetic changes and variants associated with specific genes, as well as associated diseases and conditions.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic disorders, providing detailed information on the genetic changes, proteins, and associated phenotypes. It also includes references to relevant scientific articles from PubMed.

Another important resource is the GeneTests database, which lists information on genes and genetic tests for various conditions. GeneTests provides information on testing laboratories, available tests, and associated diseases. It also provides links to scientific articles related to the genes and conditions.

The UBE3B gene, related to oculocerebrofacial syndrome, is listed in these databases. OMIM provides detailed information on the gene, including its function, associated diseases, and genetic changes. It also references scientific articles related to the gene and its associated conditions.

In addition to these databases, there are several other gene and variant databases available. These databases provide information on specific genes and variants, as well as additional resources and scientific articles related to them. Some of these databases include the GeneReviews database, the Human Gene Mutation Database (HGMD), and the Variant Effect Predictor (VEP) database.

Overall, gene and variant databases are essential tools for researchers and clinicians working on gene-related diseases. They provide valuable information on genes, genetic changes, associated diseases, and testing resources. These databases help in understanding the genetic basis of diseases and in developing targeted therapies and treatments.

References

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