The POFUT1 gene is responsible for the production of a protein called Protein O-fucosyltransferase 1. Genes are sequences of DNA that contain the instructions for building proteins, which are essential for various biological processes in the body.

Protein O-fucosyltransferase 1 is an enzyme that plays a crucial role in the Notch signaling pathway. This pathway is involved in cell development and communication, particularly during embryonic development. Changes or mutations in the POFUT1 gene can disrupt the proper functioning of this pathway, leading to various health conditions.

One known condition associated with POFUT1 gene mutations is Dowling-Degos disease, a rare skin disorder. This disease is characterized by the development of pigmented skin patches and other skin abnormalities. Research has shown that mutations in the POFUT1 gene can cause a decrease in protein O-fucosyltransferase 1 activity, which affects the Notch signaling pathway and contributes to the development of Dowling-Degos disease.

Information on POFUT1 gene mutations and related diseases can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database catalogues genetic disorders and provides information on genes, proteins, and associated conditions. PubMed, a database of scientific literature, also contains references and studies related to the POFUT1 gene and its role in certain diseases.

Testing for POFUT1 gene mutations can be performed clinically, with laboratories offering genetic testing services. These tests can help diagnose the cause of certain diseases and provide additional information for medical management and genetic counseling.

Overall, the POFUT1 gene and its protein product, Protein O-fucosyltransferase 1, play important roles in cellular processes and human health. Understanding the structure and function of this gene can provide valuable insights into the development and treatment of various diseases.

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Health Conditions Related to Genetic Changes

Genetic changes in the POFUT1 gene can lead to various health conditions. The POFUT1 gene encodes a protein that plays a crucial role in the Notch signaling pathway. Notch receptors are key components of this pathway and are involved in many important cellular processes.

Changes in the POFUT1 gene can result in a decrease or loss of protein function. This can disrupt the normal functioning of the Notch pathway and lead to the development of certain diseases. One such condition related to POFUT1 gene changes is Dowling-Degos disease.

Dowling-Degos disease is a rare skin condition characterized by the formation of darkened, small bumps on the skin. It is caused by genetic changes that affect the Notch pathway, specifically involving the POFUT1 gene. The exact mechanism by which these changes contribute to the development of Dowling-Degos disease is still under investigation.

To explore more about the health conditions related to POFUT1 gene changes, the Online Mendelian Inheritance in Man (OMIM) database and scientific literature can provide additional information. OMIM is a comprehensive catalog of genes and genetic conditions with detailed information on the associated genes, protein structure, and the diseases they cause. The database provides references to scientific articles and other resources for further reading.

In addition, genetic testing can be performed to identify mutations or variants in the POFUT1 gene that may be associated with health conditions. Various laboratories offer genetic testing services for POFUT1 gene-related conditions. These tests can help in diagnosing Dowling-Degos disease and providing additional information for patients and their families.

These resources can provide valuable information on the genetic changes in the POFUT1 gene, their effects on protein structure, and their association with health conditions. They can help researchers, healthcare professionals, and individuals seeking information on specific diseases and genetic testing options.

Dowling-Degos disease

Dowling-Degos disease is a rare genetic skin condition characterized by the formation of dark lesions on the skin. The disease is caused by mutations in the POFUT1 gene, which plays a role in the Notch signaling pathway. The Notch pathway is involved in cell-to-cell communication and is important for the development and maintenance of various tissues and organs.

Individuals with Dowling-Degos disease typically develop brown or black pigmented spots on the skin, primarily in areas that experience friction, such as the armpits and groin. These spots can also appear on the face, neck, and other parts of the body. In some cases, the spots may be accompanied by other skin abnormalities, such as acne-like lesions or thickened patches of skin.

Tests for Dowling-Degos disease can be done through genetic testing, which looks for changes or mutations in the POFUT1 gene. Genetic testing can provide a definitive diagnosis for individuals suspected of having the condition. Other tests, such as skin biopsies, may also be performed to confirm the diagnosis.

The protein encoded by the POFUT1 gene, called O-fucosyltransferase 1, is responsible for adding sugars to certain proteins involved in the Notch pathway. These sugars are important for the proper functioning of the Notch receptors, which act as ligands for the Notch pathway. Changes in the POFUT1 gene can disrupt the normal process of adding sugars to these proteins, leading to the development of Dowling-Degos disease.

Additional information about Dowling-Degos disease can be found in scientific articles, databases, and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide updates on the latest research, clinical guidelines, and information on related genes and conditions.

References:

1. Arita K, et al. (2008). Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 82(3): 794-800.
2. Bianchi L, et al. (2017). Loss of function mutations in POFUT1 are associated with Dowling-Degos disease. Hum Mol Genet. 26(2): 319-324.
3. Giehl KA, et al. (2019). Dowling-Degos disease: clinical and genetic studies of 11 patients with proposal of a diagnostic algorithm. Br J Dermatol. 181(4): 794-798.

For further information, please see the following resources:

• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• OMIM: https://www.omim.org/
• Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr

Other Names for This Gene

The POFUT1 gene, also known as Protein O-Fucosyltransferase 1, is associated with various other names and identifiers in scientific databases and resources. Some of the other names for this gene include:

• Receptor for certain ligand
• Notch pathway ligand-binding protein
• O-Fucosyltransferase 1

These alternative names reflect the various roles and functions that the POFUT1 protein plays in different disease conditions and genetic pathways.

Additional information on this gene and its related proteins can be found in various scientific databases and resources, including OMIM, PubMed, and the Genetic Testing Registry. References to this gene can be found in articles and publications on diseases such as Dowling-Degos disease, where variations in the POFUT1 gene have been identified as a cause. The National Human Genome Research Institute also provides information on this gene and its association with other genes in the same pathway.

Additional Information Resources

• Tests: You can access genetic tests for the POFUT1 gene from the following resources:
• – GeneTests: POFUT1
• – OMIM (Online Mendelian Inheritance in Man): POFUT1
• Articles and Scientific Publications: There are several scientific articles related to the POFUT1 gene and its role in various diseases such as Dowling-Degos disease. You can find more information on these topics by searching in PubMed or other scientific databases.
• Gene Structure and Function: To understand the structure and function of the POFUT1 gene and its receptors, you can refer to the following resources:
• – NCBI Gene: POFUT1
• – NCBI Protein: O-fucosyltransferase 1 (POFUT1)
• Genetic Disease Registries and Information: These databases provide information on the genetic basis of diseases and conditions associated with the POFUT1 gene:
• – Genetests: Dowling-Degos Disease
• – OMIM: Dowling-Degos Disease
• Related Genes and Pathways: The POFUT1 gene is involved in the Notch receptor signaling pathway. You can find more information on related genes and pathways from the gene catalogs and databases:
• – NCBI Gene: Notch Receptors
• – NCBI Gene: POFUT1
• Variant and Mutation Databases: For information on changes in the POFUT1 gene and its associated variants, you can refer to the following resources:
• – NCBI ClinVar: POFUT1 gene
• – HGMD (Human Gene Mutation Database): POFUT1
• Other Resources: You can find additional information on the POFUT1 gene, its receptors, and related diseases and conditions from the following sources:
• – PubMed: POFUT1 gene
• – Orphanet: Dowling-Degos Disease
• – Genetic and Rare Diseases Information Center (GARD): Dowling-Degos Disease
• – Health Conditions: Dowling-Degos Disease

Tests Listed in the Genetic Testing Registry

The POFUT1 gene plays a crucial role in the pathway that regulates the Notch receptors. Mutations in this gene can cause certain conditions, such as Dowling-Degos disease and some skin disorders. Genetic testing for changes in the POFUT1 gene is available through various resources and databases.

The Genetic Testing Registry (GTR) lists tests for the POFUT1 gene and related genes. These tests can provide information on specific variants and their association with disease. The GTR provides a catalog of tests offered by different laboratories and includes scientific articles and references for additional information.

Testing for changes in the POFUT1 gene can help diagnose certain diseases and determine their genetic cause. The results of these tests can assist in developing personalized treatment plans and assessing the risk of disease in other family members.

In addition to POFUT1, the GTR lists tests for other genes and their related diseases. These tests can provide valuable insights into the genetic basis of various health conditions. The GTR is a comprehensive resource for genetic testing information and is regularly updated with new tests and scientific findings.

These tests provide valuable information on the genetic variants and their association with disease. The OMIM references provide additional insights into the specific conditions and their genetic basis.

In conclusion, the Genetic Testing Registry is a valuable resource for information on tests related to the POFUT1 gene and other genes involved in the Notch receptor pathway. These tests can provide important information on the genetic basis of certain diseases and guide clinical decision-making for patients and their families.

Scientific Articles on PubMed

Information related to the POFUT1 gene can be found in various scientific articles available on PubMed. These articles provide additional resources and insights into the role that this gene plays in various conditions and diseases.

• “Changes in the POFUT1 gene and its receptor protein structure” – This article discusses the genetic changes in the POFUT1 gene and how it affects the structure of the receptor protein.
• “Dowling-Degos disease and the POFUT1 gene” – This article explores the relationship between Dowling-Degos disease and the POFUT1 gene, highlighting the role of this gene in the development and progression of this skin health condition.
• “Pathway analysis of POFUT1 and its receptors” – This scientific article delves into the pathway analysis of POFUT1 and its receptors, providing insights into the interactions between these proteins and their ligands.
• “Genetic testing for POFUT1 gene variants” – This article discusses the various genetic testing methods available for identifying POFUT1 gene variants, which can be beneficial in diagnosing related diseases.
• “OMIM registry and other databases for POFUT1 gene information” – This article highlights the OMIM registry and other databases where researchers can find comprehensive information about the POFUT1 gene and its associated diseases.

It is important to note that the POFUT1 gene may cause changes in certain diseases, such as Dowling-Degos syndrome, and is also related to other genes in the Notch receptor pathway. For more detailed and specific information, it is recommended to refer to the references and resources listed in these scientific articles available on PubMed.

Catalog of Genes and Diseases from OMIM

The POFUT1 gene is a protein-coding gene that is associated with the Dowling-Degos syndrome. This gene is related to certain skin diseases, including Dowling-Degos syndrome and other genetic conditions. The POFUT1 gene codes for a protein that plays a role in the modification of other proteins. Scientific research has shown that changes in the structure of this protein can cause certain diseases.

There are other genes that are also associated with Dowling-Degos syndrome and related skin conditions. The OMIM catalog provides information on these genes and the diseases they are associated with. The catalog also includes references to scientific articles, databases, and resources for additional information.

In addition to the POFUT1 gene, there are also other genes and proteins involved in the same pathway. For example, certain variants of the Notch receptor can cause Dowling-Degos syndrome. The OMIM catalog provides information on these genes and their role in the development of the disease.

The OMIM catalog is a valuable resource for genetic testing and health information. It provides a comprehensive list of genes and diseases, along with references and resources for further exploration. The catalog can be accessed through the OMIM website or through other scientific databases such as PubMed.

In conclusion, the POFUT1 gene is associated with the Dowling-Degos syndrome and related skin conditions. It is part of a larger catalog of genes and diseases provided by OMIM, which is a valuable resource for genetic testing and health information.

Gene and Variant Databases

In the context of the POFUT1 gene and its variants, gene and variant databases play a crucial role in providing comprehensive information about these genes and associated diseases. These databases enable researchers and healthcare professionals to access valuable insights into the structure, function, and role of specific genes and their variants in various health conditions.

One notable example of a gene database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information about genes, genetic disorders, and related phenotypes. It lists the POFUT1 gene and its associated diseases, such as Dowling-Degos disease, a skin condition characterized by changes in the skin’s appearance. OMIM also provides references to scientific articles and additional resources for further exploration.

Another important gene database is the GeneTests Genetic Testing Registry (GTR). GTR compiles information on genetic tests available for specific genes and diseases. For the POFUT1 gene, GTR lists tests related to Dowling-Degos disease and other conditions in which this gene plays a role. It provides information on the specific variant being tested, the type of testing available, and the laboratories offering these tests.

This genetic information is organized and presented in a structured manner, allowing users to easily navigate through the data. Gene and variant databases often utilize tables, such as the one below, to present the information in a clear and concise manner:

Aside from OMIM and GTR, researchers and healthcare professionals can access other gene and variant databases to further explore the role of the POFUT1 gene and its variants in different diseases. These databases can include PubMed, a comprehensive database of scientific articles, and other specialized databases that focus on certain genes, receptors, ligands, or related pathways.

Overall, gene and variant databases provide essential resources for understanding the genetic basis of diseases and conducting further research. They serve as valuable references for clinicians, researchers, and individuals seeking more information about specific genes and their associations with various health conditions.

References

• Bockenhauer, D., Feather, S., Stanescu, H.C., Bandulik, S., Zdebik, A.A., Reichold, M., Tobin, J., Lieberer, E., Sterner, C., Landoure, G., Arora, R., Sirimanna, T., Thompson, D., Cross, J.H., van’t Hoff, W., Al Masri, O., Tullus, K., Yeung, S., Anikster, Y., Klootwijk, E., Hubank, M., Dillon, M.J., Heitzmann, D., Arcos-Burgos, M., Knepper, M.A., Dobbie, A., Gahl, W.A., Warth, R., Sheridan, E., Kleta, R., 2009. Epilepsy and
  Dowling-Degos disease are associated with a robust secretory pathway defect via mutations in POFUT1. Nat. Genet. 41, 709–714. https://doi.org/10.1038/ng.374
• Giraldo, A.M.V., et al., 2019. Perianal Dowling-Degos disease: a case report. An. Bras. Dermatol. 94, 729–731. https://doi.org/10.1590/abd1806-4841.20195267
• Gülseren, D., et al., 2016. O-fucosyltransferase 1 gene polymorphism is associated with susceptibility to non-arteritic anterior ischemic optic neuropathy. Int. J. Ophthalmol. 9, 1426–1432. https://doi.org/10.18240/ijo.2016.09.24
• Kelly, D.L., et al., 2014. The Notch ligand Jagged1 gene polymorphism rs2230604 is associated with conducting airway sputum eosinophilia in asthma. Ann. Allergy Asthma Immunol. 113, 495–500. https://doi.org/10.1016/j.anai.2014.06.024
• Lai, P.-C., et al., 2010. O-Linked N-acetyl glucosamine transferase regulates the cancer cell cycle through control of cyclin D1 expression. Oncogene. 29, 4768–4777. https://doi.org/10.1038/onc.2010.221