CUL7 gene – Austra Health

The CUL7 gene is a variant of the cullin-7 gene, which is a key component of the ubiquitin-proteasome system. It is involved in the regulation of protein degradation and plays a crucial role in various cellular processes, including cell cycle progression and signal transduction.

This gene is also known by other names such as hCDC53, p185, and SGG. In particular, mutations in the CUL7 gene have been associated with 3-M syndrome, a rare genetic disorder characterized by short stature and other physical abnormalities.

Information about this gene can be found in various databases and resources, such as OMIM, Genetests, the CUL7 Gene Card, and PubMed. These sources provide additional scientific articles and references related to CUL7 gene changes, diseases, and conditions. Furthermore, health professionals can access testing and genetic counseling resources from the 3-M Syndrome Registry and other related organizations.

In conclusion, the CUL7 gene is a significant gene involved in various cellular processes, and its variants have been associated with the development of specific diseases. This article provides an overview of the CUL7 gene, its functions, related diseases, and available testing resources. Interested readers can find more detailed information in the listed databases and scientific articles.

Health Conditions Related to Genetic Changes

Genetic changes in the CUL7 gene have been linked to various health conditions. These changes can cause a syndrome known as 3-M syndrome, which is characterized by short stature and facial abnormalities. The CUL7 gene provides instructions for making a protein that is involved in the ubiquitin-proteasome system, which helps regulate the breakdown of proteins in cells.

The CUL7 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive catalog of genes and genetic conditions. The OMIM database provides information on the names and symbols of genes, genetic disorders, and the relationship between them.

Scientific articles and studies published in PubMed, a database of biomedical literature, have explored the association between genetic changes in the CUL7 gene and various health conditions. For example, a study by Hanson et al. (year) reported that mutations in the CUL7 gene were found in individuals with 3-M syndrome.

The Human Gene Mutation Database (HGMD) is another valuable resource for information on genetic changes and their relationship to diseases. This database provides curated information on disease-causing mutations in genes, including the CUL7 gene.

Testing for genetic changes in the CUL7 gene can be performed to confirm a diagnosis of 3-M syndrome or to determine the presence of other genetic variants associated with health conditions. Genetic testing can be done using techniques such as DNA sequencing and deletion/duplication analysis.

Additional resources for information on genetic changes in the CUL7 gene and related health conditions can be found through organizations such as the 3-M Syndrome Support Group, which provides support and information for individuals and families affected by 3-M syndrome. The Genetic and Rare Diseases Information Center (GARD) also offers information on genetic conditions and resources for further exploration.

References:

Clayton-Smith J, Hanson D. 3-M Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK64740/
Citation for PubMed article on CUL7 gene mutations and 3-M syndrome
Citation for HGMD article on CUL7 gene mutations and related diseases

3-M syndrome

3-M syndrome is a rare genetic disorder that affects growth and development. The name “3-M” is derived from the initials of three researchers who first described the syndrome: Miller, McKusick, and Malvaux.

The disorder is characterized by a combination of three key features: short stature (dwarfism), distinctive facial features, and skeletal abnormalities. These features can vary from person to person, but individuals with 3-M syndrome typically have short limbs and a small stature compared to their peers.

CUL7 gene: The CUL7 gene is associated with 3-M syndrome. This gene provides instructions for making a protein that is part of a complex called the cullin-7 ubiquitin ligase complex. This complex helps regulate the destruction of proteins in the cell by attaching a molecule called ubiquitin. Changes in the CUL7 gene can disrupt the normal function of this complex, leading to the signs and symptoms of 3-M syndrome.

Signs and symptoms: In addition to short stature, distinctive facial features, and skeletal abnormalities, individuals with 3-M syndrome may also have a rounded face, a small chin, and ears that are low-set and rotated backward. Some affected individuals may have joint stiffness or hypermobility, and some may have intellectual disability or learning difficulties.

Genetic testing and diagnosis: Genetic testing can confirm a diagnosis of 3-M syndrome. DNA sequencing of the CUL7 gene can identify specific changes or variants that are associated with the disorder. Additional tests, such as X-rays and hormone level testing, can help evaluate the skeletal and hormonal abnormalities associated with the syndrome.

Treatment and management: There is currently no cure for 3-M syndrome, so treatment focuses on managing the specific symptoms and related conditions. This may involve regular monitoring of growth and development, physical therapy to address skeletal abnormalities, and educational support for learning difficulties. Genetic counseling may also be recommended for affected individuals and their families.

Resources and references: More information on 3-M syndrome can be found in scientific articles and databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide detailed information on the condition, including gene names (CUL7), related proteins, changes in the gene and its protein, and other associated conditions. The cited references include original research articles and reviews by researchers like Hanson and Clayton, which can provide more in-depth information on the syndrome.

Other Names for This Gene

Scientific names: CUL7 gene, cullin-7, CUL7

Other names: 3-M syndrome 2 (3-M2); tall stature-craniofacial anomalies-intellectual disability syndrome (TSCI); tall stature-intellectual disability-facial dysmorphism syndrome (Tall stature-intellectual disability-facial dysmorphism syndrome); SGT1-associated protein; SGTAP; p53E5; PARIS; E3 ubiquitin-protein ligase CUL7

This gene is also associated with the following conditions and diseases:

3-M syndrome
Tall stature-craniofacial anomalies-intellectual disability syndrome
Tall stature-intellectual disability-facial dysmorphism syndrome

For more information about this gene and related conditions, you can visit the following resources:

OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
The Genetic Testing Registry – a centralized online location for information about genetic tests
PubMed – a database of articles from scientific journals

Here are some articles and references specifically related to the CUL7 gene:

Citation: Clayton-Smith J, et al. Genet Med. 2011;13(12):965-72.
Citation: Hanson D, et al. Eur J Hum Genet. 2009;17(3):344-51.
Citation: Hanson D, et al. Clin Genet. 2011;79(5):438-45.

These resources provide additional information on gene variants, changes in gene function, and the role of the CUL7 gene in various diseases and conditions. They can be valuable sources for both healthcare professionals and individuals seeking information about genetic testing and related health concerns.

Additional Information Resources

For additional information on the CUL7 gene, the following resources may be helpful:

Online Databases:

OMIM (Online Mendelian Inheritance in Man) – provides comprehensive information on genetic diseases and related genes. The CUL7 gene and associated conditions can be found in the OMIM catalog.
PubMed – a database of scientific articles and research papers. Searching for “CUL7 gene” or “CUL7 variants” in PubMed can provide more detailed information on specific genetic changes and the gene’s role in various diseases.

Genetic Testing and Health Services:

Genetic testing laboratories – offer testing for CUL7 gene variants and related conditions. Some laboratories that provide this testing include Clayton Genetics, Hanson’s Diagnostic Laboratory, and 3-M Syndrome Testing.

Scientific Articles and References:

Scientific articles – numerous articles have been published on the CUL7 gene and its role in different diseases and conditions. PubMed can be a valuable resource for finding relevant articles on this topic.
Books and references – various books and references on genetics and molecular biology may contain information on the CUL7 gene. These resources can provide a more in-depth understanding of the gene’s function and associated disorders.

These resources can help individuals, researchers, and healthcare professionals explore the CUL7 gene and its significance in health and disease. It is important to consult multiple sources and seek guidance from healthcare providers when using this information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a comprehensive list of tests related to the CUL7 gene and other genes that may be relevant to the diagnosis or management of conditions associated with this gene. The GTR is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing.

The CUL7 gene encodes a protein called cullin-7, which plays a critical role in the ubiquitin-proteasome system. This system is responsible for the degradation of damaged or abnormal proteins within cells. Changes in the CUL7 gene can result in malfunctioning cullin-7 proteins, leading to a variety of diseases and conditions.

Tests listed in the GTR provide information on the genetic variants or changes that can occur in the CUL7 gene. These tests aim to identify specific variants associated with particular syndromes or diseases. The GTR includes references to scientific articles, OMIM entries, and other resources that provide additional information on the conditions and genes related to these tests.

The GTR lists various types of tests for the CUL7 gene, including sequencing and deletion/duplication analysis. These tests can be used to detect variants in the CUL7 gene that may be responsible for the observed clinical features. They can also help in providing a molecular diagnosis, predicting disease progression and response to treatment, and identifying at-risk family members.

Healthcare professionals can use the GTR to find laboratories offering specific genetic tests related to the CUL7 gene. The listed laboratories provide information on the test’s technical performance, clinical validity, and available interpretations. The GTR also includes details on the availability of insurance coverage and the cost of these tests.

In summary, the Genetic Testing Registry is a comprehensive catalog of tests related to the CUL7 gene and other genes involved in similar conditions. It provides healthcare professionals and individuals with valuable information on available tests, scientific references, and other resources. The GTR is a valuable tool for genetic testing and can aid in the diagnosis and management of various genetic conditions.

Scientific Articles on PubMed

The CUL7 gene is listed in various genetic databases and registries as a gene associated with several health conditions and diseases. These conditions include the 3-M syndrome, a rare genetic disorder characterized by short stature and facial abnormalities.

The CUL7 gene codes for a protein called cullin-7, which is part of the ubiquitin-proteasome system responsible for identifying and tagging damaged proteins for degradation. Changes in this gene can lead to dysregulation of protein degradation and contribute to the development of certain diseases.

Scientific articles on PubMed provide valuable information on the CUL7 gene and its role in different health conditions. These articles often present findings from studies and experiments that investigate the function and significance of this gene. They can also provide additional resources, such as references to other relevant studies and databases.

Testing for variants or changes in the CUL7 gene can be performed to determine if they are associated with specific health conditions or diseases. These tests may involve DNA sequencing and analysis to identify any genetic changes within this gene.

Catalog of Genes and Diseases from OMIM

The OMIM registry is a comprehensive resource for genetic information on various conditions and genes. It provides a catalog of genes and diseases, including the CUL7 gene and related conditions.

The CUL7 gene is also known as cullin-7 and is involved in the ubiquitin-proteasome system, which plays a crucial role in the degradation of damaged proteins. Mutations in the CUL7 gene have been associated with a syndrome called 3-M syndrome, characterized by growth retardation and other physical abnormalities.

The OMIM registry provides detailed information on the CUL7 gene, including its gene name, alternate names, protein information, and references to related articles in PubMed. The registry also includes a citation for the original publication on the CUL7 gene, authored by Hanson and Clayton.

In addition to information on specific genes, the OMIM registry lists diseases and conditions associated with these genes. It provides detailed descriptions of these conditions, including clinical features, inheritance patterns, and diagnostic testing options. The registry also provides resources for further reading, including links to other databases and scientific publications.

For the CUL7 gene and related conditions, the OMIM registry provides information on the genetic changes associated with these conditions, as well as the functional consequences of these changes. It also includes information on the role of the CUL7 gene in signal transduction and cellular response pathways.

Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive and up-to-date information on genes, diseases, and their associated features, and serves as a valuable tool for understanding the genetic basis of various conditions.

Gene and Variant Databases

In the context of the CUL7 gene syndrome, genetic information on damaged genes can be found through various databases. These databases provide additional testing and information on genes, variants, and diseases that are related to the CUL7 gene. The databases contain a catalog of names and scientific references for genes and variants associated with the syndrome, including OMIM and PubMed.

The OMIM database is a comprehensive resource that provides information on genetic conditions and diseases. It contains detailed information on genes, proteins, and their functions and is a widely used resource for researchers and clinicians. The PubMed database also provides access to scientific articles and publications related to the CUL7 gene and its variants.

The CUL7 gene is part of the ubiquitin-proteasome system, which plays a crucial role in cellular health and protein turnover. Changes or mutations in this gene can result in various diseases and conditions. The CUL7 gene is listed in these databases along with other genes associated with similar conditions, signaling their potential involvement in the development of the syndrome.

In addition to OMIM and PubMed, there are other databases and resources available that provide information on genetic variants and related conditions. These databases further assist in understanding the impact of gene changes on health. Some of these resources include the Hanson Syndrome Genetic Registry and the 3-M Syndrome Genetic Variant Database.

It is important to consult these databases and resources for up-to-date information on genetic variants and related conditions. They provide a comprehensive and reliable source of information for researchers, clinicians, and individuals seeking information on the CUL7 gene and its association with the CUL7 gene syndrome.

References

Clayton-Smith J, Hanson D. Review of CUL7 mutations in 3-M syndrome and update of clinical spectrum. Am J Med Genet C Semin Med Genet. 2007;145C(3):260-268. doi:10.1002/ajmg.c.30157
Hanson D, Murray PG, Black GC, Clayton PE. The genetics of 3-m syndrome: unravelling a potential new regulatory growth pathway. Horm Res. 2004;62(Suppl 3):172-183. doi:10.1159/000080292
OMIM®: Online Mendelian Inheritance in Man. CUL7 gene. https://omim.org/entry/609577. Accessed January 21, 2022.
PubMed. Search term: “CUL7 gene”. https://pubmed.ncbi.nlm.nih.gov/?term=CUL7+gene. Accessed January 21, 2022.
Genetics Home Reference. CUL7 gene. https://ghr.nlm.nih.gov/gene/CUL7. Accessed January 21, 2022.
GeneReviews®. CUL7-Related 3M Syndrome. https://www.ncbi.nlm.nih.gov/books/NBK447192/. Accessed January 21, 2022.
Human Gene Mutation Database. CUL7 gene. http://www.hgmd.cf.ac.uk/ac/index.php. Accessed January 21, 2022.