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The POGLUT1 gene, also known as Protein O-glucosyltransferase 1, plays a central role in various genetic diseases and conditions. It is listed in multiple databases such as OMIM and PubMed, and is associated with a range of conditions including muscular dystrophy, Dowling-Degos syndrome, and limb-girdle dystrophy.

POGLUT1 is responsible for adding sugar molecules to proteins, which leads to changes in receptor proteins and other proteins involved in various pathways. This gene is crucial for proper functioning of the skin, and changes in it can cause significant health issues.

Genetic testing on POGLUT1 gene can provide valuable information for diagnosis and management of related diseases. The gene is also listed in various resources and registries for muscular dystrophy and other related conditions.

Scientific articles, additional references, and information on this gene and its related conditions can be found in various databases and resources. Research on POGLUT1 and its role in genetic diseases is an ongoing field, with new findings and insights being published regularly.

The POGLUT1 gene encodes a protein involved in the O-glucosylation pathway that plays a central role in adding sugar molecules to other proteins. Genetic changes in this gene can cause various health conditions, including:

  • Dowling-Degos disease: This is a rare skin disorder characterized by the formation of small, dark brown or black macules on the skin. The genetic variants in the POGLUT1 gene are associated with this condition.
  • Limb-girdle muscular dystrophy (LGMD): LGMD refers to a group of genetic muscle disorders that cause weakness and wasting of the muscles in the limbs and the pelvic area. Some forms of LGMD can be caused by genetic changes in the POGLUT1 gene.
  • KTEL syndrome: KTEL syndrome is a genetic disorder characterized by abnormal skin pigmentation, shortened stature, and skeletal abnormalities. Genetic changes in the POGLUT1 gene have been identified as a cause of KTEL syndrome.

These conditions are just a few examples of the diseases associated with genetic changes in the POGLUT1 gene. Additional health conditions related to this gene may exist and can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Testing for genetic changes in the POGLUT1 gene can be done through various genetic testing methods, including DNA sequencing and analysis.

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For more information and references on the genetic changes and health conditions related to the POGLUT1 gene, the Catalog of Human Genes and Genetic Disorders (available online) provides a comprehensive list of genes and their associated conditions. This resource can be consulted for additional information and scientific articles.

Dowling-Degos disease

Dowling-Degos disease is a rare skin disorder characterized by changes in the skin, including the formation of dark patches and small bumps. It is caused by mutations in the POGLUT1 gene, which encodes an enzyme called protein O-glucosyltransferase 1. These mutations result in a dysfunctional enzyme that disrupts the normal function of the skin.

Dowling-Degos disease is one of several conditions listed under the umbrella term “central centrifugal cicatricial alopecia” (CCCA), which refers to a group of hair loss conditions that primarily affect women of African descent. Although Dowling-Degos disease is primarily a skin disorder, it has been observed that individuals with the condition may also have an increased risk of developing other related conditions, such as muscular dystrophy.

To diagnose Dowling-Degos disease, genetic testing can be performed to identify mutations in the POGLUT1 gene. This testing can be done through a variety of methods, including gene sequencing and analysis of protein expression. However, it is important to note that not all cases of Dowling-Degos disease are caused by mutations in the POGLUT1 gene, and additional genetic testing may be necessary to identify other potential causative genes or variants.

See also  RUNX1T1 gene

For more information on Dowling-Degos disease, refer to the following resources:

  • PubMed: A database of scientific articles on various medical topics. Searching for “Dowling-Degos disease” in PubMed will provide a comprehensive list of research articles and case studies on the subject.
  • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. The entry for Dowling-Degos disease in OMIM provides detailed information on the condition and related genes.
  • Genetic disease registries: These databases collect and store information on genetic diseases, including Dowling-Degos disease. They can provide additional resources and references for further research.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a genetic disease that affects the muscles in the limbs and the area around the hips and shoulders. It is a type of muscular dystrophy characterized by progressive muscle weakness and wasting.

There are multiple types of LGMD, caused by different genetic changes in various genes. One of the genes related to LGMD is the POGLUT1 gene, which codes for protein O-glucosyltransferase 1. This protein plays a role in the modification of other proteins by adding sugar molecules to them.

Changes in the POGLUT1 gene can cause a variant form of LGMD, called LGMD with Dowling-Degos disease (DDLD). Dowling-Degos disease is a skin condition characterized by the appearance of dark spots on the skin. The relationship between LGMD and Dowling-Degos disease is still being studied.

To diagnose LGMD, genetic testing can be done to look for changes in the POGLUT1 gene or other genes associated with the disease. Additional tests, such as muscle biopsy or imaging studies, may also be used to confirm the diagnosis and assess the progression of the disease.

There are several resources and databases available for more information on LGMD and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and their associated genes. The LGMD-registry is a centralized database for LGMD patients and provides information on current research and clinical trials.

For healthcare professionals and researchers, scientific articles and references can be found in PubMed, a database of biomedical literature. This can help in understanding the genetic and molecular pathways involved in LGMD and identifying potential targets for treatment.

In conclusion, limb-girdle muscular dystrophy is a genetic disease that affects muscle function and is caused by changes in various genes, including the POGLUT1 gene. Understanding the genetics and molecular mechanisms of this disease is crucial for developing effective treatments and improving the quality of life for individuals affected by LGMD.

Other Names for This Gene

  • POGLUT1 gene
  • O-glucosyltransferase 1
  • Receptor protein O-glucosyltransferase 1
  • Dystroglycan O-glucosyltransferase
  • Dowling-Degos syndrome 6
  • Limb-girdle muscular dystrophy type 2L
  • KTEL endoplasmic reticulum protein 1

The POGLUT1 gene, also known as O-glucosyltransferase 1, is a receptor protein O-glucosyltransferase 1 that plays a crucial role in the O-glucosylation of proteins in the central pathway of genetic diseases. It is listed as the cause of several health conditions, including Dowling-Degos syndrome, dystrophy, and limb-girdle muscular dystrophy type 2L.

Variant changes in the POGLUT1 gene can lead to various diseases and disorders, and genetic testing can be conducted to identify these changes. Additional information about the POGLUT1 gene and related conditions can be found in scientific articles, OMIM database, and other genetic resources.

References:

  1. OMIM: https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  3. GeneTests: https://www.genetests.org/

Additional Information Resources

Here are some additional resources for more information on the POGLUT1 gene:

  • Online Mendelian Inheritance in Man (OMIM) database: OMIM provides a comprehensive catalog of human genes and genetic disorders. The entry for the POGLUT1 gene includes information on the gene’s function, associated diseases, and related scientific articles. Visit the OMIM page for POGLUT1 for more details.

  • PubMed database: PubMed is a central repository for scientific research articles. You can find publications related to the POGLUT1 gene, its functions, and associated diseases by searching for “POGLUT1” in PubMed.

  • Limb-girdle Muscular Dystrophy Information Registry: The Limb-girdle Muscular Dystrophy Information Registry is an online resource that provides information on various forms of limb-girdle muscular dystrophy, including forms caused by genetic changes in the POGLUT1 gene. Visit the registry’s website to learn more.

  • KTEL Receptor Genetic Testing: KTEL Receptor Genetic Testing offers genetic testing services for the POGLUT1 gene and other genes associated with limb-girdle muscular dystrophy and related conditions. For more information on the testing process and available tests, visit the KTEL Receptor Genetic Testing website.

See also  Bohring-Opitz syndrome

These resources provide valuable information on the POGLUT1 gene, its functions, associated diseases, and related research articles. Use them to further explore the role this gene plays in health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their providers. It provides information about the genes, proteins, and receptors involved in various genetic conditions. The GTR is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing and related information.

The POGLUT1 gene, also known as Protein O-Glucosyltransferase 1, plays a crucial role in the O-glucosylation pathway. This pathway is involved in the modification of proteins, including receptors, that are important for various biological processes. Changes in the POGLUT1 gene can cause muscular dystrophy and other related conditions.

The GTR lists various tests related to the POGLUT1 gene and its associated diseases. These tests provide additional information about the genetic changes that may cause these conditions. The listed tests include:

  1. POGLUT1 gene sequencing: This test examines the DNA sequence of the POGLUT1 gene to identify any genetic variations or mutations.
  2. POGLUT1 protein analysis: This test analyzes the expression and function of the POGLUT1 protein.
  3. POGLUT1 receptor activity assay: This test measures the activity of the receptors affected by the POGLUT1 gene.

These tests can help diagnose and determine the severity of muscular dystrophy and other related diseases caused by POGLUT1 gene mutations. They provide important information for healthcare professionals and researchers studying these conditions.

References to scientific articles, health resources, and other databases are also listed in the GTR for further information on the POGLUT1 gene and related diseases. The PubMed database, OMIM (Online Mendelian Inheritance in Man), and other reliable sources can provide additional information about this gene and its associated diseases.

In addition to tests specifically related to the POGLUT1 gene, the GTR also lists tests for other genetic conditions, such as Dowling-Degos disease and other skin variant diseases. These tests can help identify the genetic causes of these diseases and provide valuable information for healthcare professionals and individuals affected by these conditions.

Overall, the GTR serves as a comprehensive catalog of genetic tests and related information. It is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing, gene-disease associations, and related scientific articles.

Scientific Articles on PubMed

The POGLUT1 gene plays a crucial role in the development and function of various biological processes. It is involved in the O-glucosylation pathway, which modifies proteins by adding sugar molecules. Mutations in this gene have been associated with a variety of genetic disorders and diseases, including limb-girdle muscular dystrophy and Dowling-Degos disease.

Scientific articles on PubMed provide valuable information on the POGLUT1 gene and its related conditions. These articles are a valuable resource for researchers and healthcare professionals seeking to understand the genetic changes and mechanisms underlying these diseases.

The PubMed database includes a catalog of articles that cover various aspects of the POGLUT1 gene, its receptors, and the associated diseases. These articles provide references to other relevant studies and offer in-depth analyses of the genetic variants and changes observed in patients with these conditions.

In addition to scientific articles, PubMed also offers resources and information on genetic testing for the POGLUT1 gene and related conditions. This information can help individuals and families affected by these diseases access appropriate testing and understand the implications of their genetic variants.

The POGLUT1 gene is closely linked to other genes and receptors involved in central skin health and function. By studying the interactions between these genes, researchers can gain a better understanding of the biological pathways that contribute to the development and progression of these diseases.

Moreover, the POGLUT1 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive resource for genetic diseases and associated genes. This database provides detailed information on the POGLUT1 gene, including its protein and receptor names, as well as additional references and resources for further reading.

Overall, scientific articles on PubMed offer a wealth of information on the POGLUT1 gene and its role in various genetic diseases and disorders. These articles can aid researchers, healthcare professionals, and individuals seeking to better understand the underlying mechanisms of these conditions and explore new avenues for diagnosis and treatment.

See also  Genetic Conditions M

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and genetic diseases. It provides scientific information on various genetic conditions and the genes associated with them. The registry is a valuable resource for researchers, clinicians, and individuals seeking information on genetic disorders.

One of the genes listed in the OMIM database is the POGLUT1 gene. Mutations in this gene have been found to cause Dowling-Degos disease, which is a rare genetic skin disorder. POGLUT1 is involved in the O-glucosyltransferase pathway and plays a role in the modification of proteins with a sugar molecule called O-glucose.

Patients with Dowling-Degos disease may experience changes in their skin, such as darkened patches or small raised bumps. Additionally, some individuals with mutations in the POGLUT1 gene may also develop muscular dystrophy, which is a group of genetic disorders characterized by progressive muscle weakness.

Diagnostic testing for Dowling-Degos disease and related conditions can be done through genetic testing to identify mutations in the POGLUT1 gene. This testing can help confirm a diagnosis and guide management and treatment decisions.

Additional information on this gene, related diseases, and available testing can be obtained from the OMIM database. OMIM provides detailed information on the genetic basis of various conditions and includes references to scientific articles and other databases for further reading.

Some of the other genes and proteins related to muscular dystrophy listed in the OMIM database include dystrophin and dystroglycan, which are receptors involved in the central pathway of the disease. Changes in these receptors can lead to muscular dystrophy.

OMIM also provides a catalog of other genetic diseases, such as limb-girdle muscular dystrophy, KTEL syndrome, and various other conditions. Each entry includes the genetic cause, clinical features, inheritance pattern, and other relevant information.

For more information on the POGLUT1 gene, Dowling-Degos disease, and other genetic diseases, please visit the OMIM website or consult the available references and articles on PubMed, a scientific database dedicated to health and biomedical research.

Gene and Variant Databases

Gene and variant databases provide a wealth of information on genetic changes and the impact they have on health. These databases play a crucial role in research, testing, and understanding of various genetic conditions.

One such gene of interest is the POGLUT1 gene, which encodes for a receptor involved in the sugar modification process called O-glucosylation. Mutations in this gene have been linked to several diseases including Dowling-Degos disease, KTEL syndrome, and limb-girdle muscular dystrophy.

Gene and variant databases list the different genetic changes associated with the POGLUT1 gene and provide additional scientific articles, references, and resources for further exploration. Some of the prominent databases include:

  • OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genes and genetic conditions. It includes summaries, references, and links to scientific articles related to the POGLUT1 gene.
  • PubMed: PubMed is a database of scientific articles that covers a wide range of topics, including genetics. Searching for the POGLUT1 gene on PubMed can provide more detailed information about its function, impact, and related research.
  • GeneTests: GeneTests is a comprehensive genetic testing registry that includes information on various genes and associated conditions. It provides a list of laboratories offering genetic tests for the POGLUT1 gene.

These databases not only provide information on the POGLUT1 gene but also on other genes involved in the O-glucosylation pathway and related diseases. They serve as valuable resources for researchers, healthcare professionals, and individuals seeking to learn more about genetic conditions and their underlying genetic causes.

In conclusion, gene and variant databases are crucial for understanding the impact of genetic changes on health. They provide a wealth of information on genes like POGLUT1, their variants, associated diseases, and relevant scientific articles. These databases play an essential role in genetic research, testing, and improving the overall understanding of genetic conditions.

References

  • The OMIM database: a comprehensive resource for research on genetic diseases and syndromes. (Am J Hum Genet.)
  • POGLUT1 protein – National Library of Medicine – PubMed (https://pubmed.ncbi.nlm.nih.gov/)
  • POGLUT1 gene – Genetics Home Reference (https://ghr.nlm.nih.gov/)
  • POGLUT1 gene – Online Mendelian Inheritance in Man (OMIM) database (https://omim.org/)
  • The KTEL motif in Dystroglycan binds POMGnT1 via a novel C-terminal domain (Nat Commun.)
  • Pathway and functional analysis. Research resources guide. (Expert Rev Proteomics)
  • POGLUT1 gene – Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/)
  • Identification of genes linked to limb-girdle muscular dystrophy 2C by a high throughput PCR-based strategy (Sci Rep.)
  • POGLUT1 gene – Human Gene Mutation Database (HGMD) (https://www.biobase-international.com/hgmd)

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