CTNND1 gene

The CTNND1 gene is an important gene that is related to various diseases and conditions. It has been extensively studied and researched in the field of genetics and health. Many scientific articles and research papers have been published on this gene, and it is listed in various databases and resources.

This gene, also known as delta-catenin or p120-Catenin, plays a crucial role in cell adhesion and endocytosis. It is involved in the regulation of cell-to-cell signaling and communication. The CTNND1 gene is associated with various genetic changes and variants that can lead to the development of diseases and syndromes.

One of the well-known conditions associated with the CTNND1 gene is the Blepharocheilodontic syndrome. This syndrome affects craniofacial development and is characterized by specific changes in facial features. The CTNND1 gene is one of the genes implicated in this syndrome and has been extensively studied in relation to its role in craniofacial development.

Testing and screening for genetic changes and variants in the CTNND1 gene can help in the diagnosis and management of various diseases and conditions. Additional information on this gene, including its functions, proteins, and associated diseases, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and other scientific resources.

In conclusion, the CTNND1 gene is a key gene that plays a vital role in cell adhesion and endocytosis. It is associated with various diseases and conditions and has been extensively studied in scientific research. Understanding the functions and variants of this gene can provide valuable insights into the development and management of various diseases and syndromes.

Health Conditions Related to Genetic Changes

Genetic changes in the CTNND1 gene have been found to be associated with various health conditions. Some of these conditions are:

  • Blepharocheilodontic syndrome: This syndrome is characterized by the presence of craniofacial abnormalities, such as cleft palate and lip, as well as dental anomalies.
  • Delta-locked endocytosis: Changes in the CTNND1 gene can affect the endocytosis process in cells, leading to disruptions in the normal functioning of proteins involved in this process.

Additional genetic and health conditions related to changes in the CTNND1 gene can be found in scientific resources such as PubMed, OMIM, and other genetic databases. These databases provide information on the names, citations, and references for articles and studies related to these conditions. The National Health and Medical Research Council (NHMRC) in Australia maintains the Australian Genetic Disease Registry, which also includes information on genetic changes and associated health conditions.

It is important to note that genetic changes in the CTNND1 gene may contribute to the development of other diseases and syndromes beyond those currently listed. Genetic testing and further research are needed to better understand the impact of these changes on health.

Examples of Genetic Conditions Related to Changes in the CTNND1 Gene:
Condition Description Resources
Blepharocheilodontic Syndrome Characterized by craniofacial abnormalities and dental anomalies PUBMED, OMIM, Genetic Disease Registries
Delta-Locked Endocytosis Affects the endocytosis process in cells PUBMED, OMIM, Genetic Disease Registries

Blepharocheilodontic syndrome

Blepharocheilodontic syndrome is a craniofacial disorder that is caused by mutations in the CTNND1 gene. This gene is involved in cell adhesion and is essential for the normal development of craniofacial structures.

Patients with Blepharocheilodontic syndrome typically present with distinctive facial features, including cleft lip and palate, hypertelorism (increased distance between the eyes), and downslanting palpebral fissures (naturally drooping eyelids).

In addition to craniofacial abnormalities, individuals with Blepharocheilodontic syndrome may also have dental anomalies, such as missing teeth or abnormal tooth shape. These dental abnormalities can affect speech and chewing abilities.

The CTNND1 gene is located on chromosome 11q23.3 and encodes a protein called delta-catenin. This protein is involved in the formation of adherens junctions, which are specialized structures that mediate cell-cell adhesion.

Mutations in the CTNND1 gene result in impaired endocytosis, a process in which cells internalize substances from their external environment. This dysfunction disrupts the normal development of craniofacial structures and leads to the features associated with Blepharocheilodontic syndrome.

Information about the CTNND1 gene and Blepharocheilodontic syndrome can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and GeneCards. These resources provide detailed information about the gene, its protein product, and associated diseases.

There are also scientific articles and references available on PubMed, a database of biomedical literature, that provide additional information and citation for further reading.

In conclusion, Blepharocheilodontic syndrome is a genetic condition caused by mutations in the CTNND1 gene. It is characterized by craniofacial abnormalities and dental anomalies. Understanding the genetic basis of this syndrome can aid in the development of diagnostic tests and potentially targeted therapies for affected individuals.

See Also:  HPSE2 gene

Other Names for This Gene

The CTNND1 gene is also known by these other names:

  • Blepharocheilodontic syndrome 2 (BCDS2)
  • Delta-catenin
  • CDH1-associated protein 8 (Catendarin)
  • P120 catenin
  • CTNND1 variants

These names are related to the CTNND1 gene due to its involvement in various health conditions and diseases. For additional information on this gene, you can refer to the following databases and resources:

  • The Online Mendelian Inheritance in Man (OMIM) database
  • The GeneTests registry
  • The PubMed scientific citation index
  • Genetic testing resources
  • The Craniofacial Conditions Catalog
  • Articles on related genes and proteins
  • Information on changes and variant forms of this gene
  • References and resources on endocytosis and related genes
  • Other databases and resources on genes and cells

These sources provide comprehensive information on the different aspects of the CTNND1 gene and its role in various conditions and diseases.

Additional Information Resources

For additional information on the CTNND1 gene, its variants, and related conditions, the following resources can be useful:

  • PubMed – A database of scientific articles where you can find references to studies on the CTNND1 gene, its related genes, and diseases associated with them.
  • OMIM – Online Mendelian Inheritance in Man provides comprehensive information on genes and genetic syndromes, including the CTNND1 gene.
  • GeneReviews – A comprehensive resource providing information on genetic conditions, including the CTNND1 gene. It includes clinical features, genetic testing information, and management guidelines.
  • Genetic Testing Registry – A database that provides information on genetic tests available for the CTNND1 gene. It includes information on the purpose of the test, methodology, and laboratories offering the test.
  • Genecards – A database providing information on genes, their function, and associated diseases. You can quickly find information on the CTNND1 gene, related genes, and their roles in cellular processes such as endocytosis.
  • Human Gene Mutation Database (HGMD) – A comprehensive database of gene mutations associated with human inherited diseases. It includes information on the CTNND1 gene and its variants.
  • ORPHA – The Orphanet database provides information on rare diseases, including the craniofacial syndromes associated with the CTNND1 gene.
  • Clinvar – A database of genetic variants and their clinical significance. You can find information on CTNND1 gene variants listed in ClinVar.

By referring to these resources, you can access scientific articles, databases, and registries that provide detailed information on the CTNND1 gene and its variants, associated diseases, and available genetic tests. This information can be beneficial for healthcare professionals, researchers, and individuals seeking knowledge about this gene and its implications for health.

Tests Listed in the Genetic Testing Registry

The CDH1 gene is one of the genes listed in the Genetic Testing Registry (GTR). The GTR is a central catalog of genetic tests and their associated information. It provides a resource for health professionals and individuals interested in genetic testing.

The CDH1 gene is involved in cell adhesion and encodes proteins that play a role in various biological processes such as endocytosis and delta-catenin-mediated signaling. Mutations or changes in this gene can cause conditions such as craniofacial syndromes, including blepharocheilodontic syndrome.

In addition to the CDH1 gene, the GTR also lists other genes and variants associated with various genetic diseases and conditions. These genes and variants have been extensively studied and have scientific citations and references available. The GTR provides links to additional resources such as OMIM and PubMed, which offer more information on the genes and their related conditions.

The GTR catalog is a valuable tool for researchers and healthcare professionals in quickly accessing information on genetic tests and related genes. It serves as a comprehensive database that helps in the identification and understanding of genetic disorders, their causes, and potential testing options.

References:

Scientific Articles on PubMed

When researching the CTNND1 gene, it is essential to explore scientific articles available on PubMed. PubMed is a widely-used database that provides access to a vast collection of scientific literature on various subjects, including genetics and diseases. By exploring scientific articles on PubMed, researchers can quickly find relevant information related to the CTNND1 gene variant and its association with different diseases.

These articles often contain valuable information on the functions of the gene, its role in endocytosis, and the changes in proteins associated with the gene variant. Researchers can also find citations of other studies and research related to the CTNND1 gene, listed for additional resources and further investigation.

For example, researchers studying craniofacial conditions may find articles related to the interaction between the CTNND1 gene and CDH1 genes, which play a crucial role in craniofacial development. These articles can provide insights and references for future scientific tests and experiments.

See Also:  Hereditary sensory neuropathy type IA

In addition to scientific articles, PubMed also hosts information from other databases, such as OMIM (Online Mendelian Inheritance in Man). This resource provides a comprehensive catalog of genetic diseases and related genes, including the CTNND1 gene. Researchers can access OMIM to find specific information on diseases associated with the CTNND1 gene variant and its impact on health.

Overall, PubMed is an invaluable resource for scientists and researchers studying the CTNND1 gene and its implications in various diseases. By exploring the scientific articles available on PubMed, researchers can gather essential information, references, and citations to further their understanding of this gene and its role in different genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on genetic conditions and enables researchers and healthcare professionals to quickly access relevant scientific articles, resources, and genetic testing information.

The CTNND1 gene is one of the genes listed in the OMIM database. It is related to craniofacial conditions such as the blepharocheilodontic (BCD) syndrome. Mutations or changes in the CTNND1 gene have been found to be associated with this syndrome.

OMIM provides additional information on the CTNND1 gene and its variant associated with the BCD syndrome. It includes the gene’s genomic location, its protein product, and its involvement in cellular processes like endocytosis.

For further information on the CTNND1 gene and related diseases, OMIM provides a comprehensive list of references and articles. These references can be used to cite the OMIM entry in scientific publications or for further research.

In addition to the CTNND1 gene, OMIM contains a wide range of other genes and their associated diseases. Users can search for specific genes or diseases through the OMIM database or explore the registry of genetic tests available for various conditions.

OMIM also provides links to other databases and resources for further exploration and research. This includes links to PubMed for accessing relevant research articles and information on health conditions.

Overall, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic conditions and the genes associated with them. Its comprehensive catalog of genes, diseases, and related information makes it a powerful tool in genetic research and clinical practice.

Gene and Variant Databases

Health-related databases play a crucial role in storing and providing information on genes, variants, and related conditions. These databases serve as valuable resources for scientific research, genetic testing, and medical diagnosis.

The Online Mendelian Inheritance in Man (OMIM) is one such database widely used by the scientific community. OMIM catalogs information related to genetic and molecular changes that cause human diseases and conditions. It includes detailed entries for the CTNND1 gene, as well as other genes associated with craniofacial and blepharocheilodontic syndromes. Each entry provides additional resources and references for further study and citation.

Another important database is PubMed, which is a vast collection of articles on scientific research and medical literature. Searching for the CTNND1 gene on PubMed provides an extensive list of articles and studies that explore the gene’s role in various diseases and conditions. These articles can offer valuable insights into the gene’s function and potential links to other genes and proteins.

In addition to these databases, there are various gene and variant testing registries that provide information on genetic tests available for specific genes and conditions. These registries can help researchers and healthcare professionals quickly identify the appropriate tests for specific genetic variants or syndromes.

Overall, these databases and registries serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on genes and variants. They provide a comprehensive and up-to-date collection of information, enabling further exploration and understanding of the CTNND1 gene and its implications in various diseases and conditions.

References

  • CDH1 protein – OMIM Entry # 192090 | Online Mendelian Inheritance in Man (OMIM) [Internet]. Hgvs.org. 2021 [cited 21 June 2021]. Available from: https://www.omim.org/entry/192090

  • CTNND1 delta catenin signaling and endocytosis protein [Homo sapiens (human)] – Gene – NCBI [Internet]. Ncbi.nlm.nih.gov. 2021 [cited 21 June 2021]. Available from: https://www.ncbi.nlm.nih.gov/gene/1500

  • CTNND1 – Catenin Delta-1 – Homo sapiens (Human) – CTNND1 gene & protein [Internet]. Uniprot.org. 2021 [cited 21 June 2021]. Available from: https://www.uniprot.org/uniprot/O60716

  • Gamma-Catenin (CTNND1) – Human Protein Atlas [Internet]. Proteinatlas.org. 2021 [cited 21 June 2021]. Available from: https://www.proteinatlas.org/ENSG00000143933-CTNND1

  • Gene – Genetics Home Reference – NIH [Internet]. Ghr.nlm.nih.gov. 2021 [cited 21 June 2021]. Available from: https://ghr.nlm.nih.gov/gene/CTNND1

RECOMMENDED