PIGO gene

The PIG-O gene is a human gene that is listed in various genetic databases. It is associated with the PIGA-CDG syndrome, a rare genetic disorder. The PIG-O gene has been extensively studied and is documented in numerous scientific articles found in PubMed and other related resources.

The PIG-O gene codes for a protein involved in the biosynthesis of glycophosphatidylinositol (GPI) anchors. GPI anchors play a critical role in attaching proteins to cell membranes. Defects in the PIG-O gene can lead to the malfunctioning of GPI anchors, resulting in a variety of genetic conditions.

Changes in the PIG-O gene have been linked to several diseases, including Mabry syndrome and other related conditions. Genetic testing for variants in the PIG-O gene can provide valuable information on the presence of these conditions. It is important to consult healthcare professionals and genetic testing laboratories to get accurate and up-to-date information on PIG-O gene testing.

The PIG-O gene, along with other genes involved in GPI anchor biosynthesis, is part of the OMIM catalog. OMIM provides a comprehensive collection of information on genetic conditions and the genes that are associated with them. It is a valuable resource for researchers, healthcare providers, and individuals seeking more information on conditions related to the PIG-O gene.

Health Conditions Related to Genetic Changes

Genetic changes in the PIGO gene can lead to various health conditions. The PIGO gene provides instructions for making a protein involved in the production of glycosylphosphatidylinositol (GPI), which anchors many proteins to the cell surface. Alterations in the PIGO gene can affect the function of the protein and disrupt GPI anchor synthesis, leading to a range of disorders.

Individuals with PIGO gene mutations may have PIGO Syndrome, a rare genetic disorder characterized by developmental delay, intellectual disability, seizures, and distinctive facial features. These features may include a tall forehead, widely spaced eyes, and a thin upper lip. Additional health conditions associated with PIGO gene changes may include hypotonia (low muscle tone), skeletal abnormalities, heart defects, and hearing loss.

To learn more about health conditions related to genetic changes in the PIGO gene, scientists and researchers have published numerous articles and studies. These publications are available in scientific databases such as PubMed, where the latest research on the PIGO gene and its associated health conditions can be found. Many of these articles provide valuable information on the clinical features, genetic testing, and management of PIGO-related disorders.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic conditions related to the PIGO gene. OMIM catalogs genes and genetic variants associated with various diseases and syndromes, providing references to scientific articles, clinical descriptions, and genetic testing resources.

Healthcare providers can use this information to stay updated on the latest research findings, identify individuals at risk for PIGO-related conditions, and guide appropriate diagnostic testing. Genetic testing can help confirm a suspected PIGO gene alteration and may involve sequencing the PIGO gene, evaluating GPI anchor synthesis, or analyzing protein levels in the affected individual.

By understanding the genetic changes in the PIGO gene and their impact on health, healthcare professionals can provide accurate diagnoses, appropriate medical management, and support for individuals and families affected by PIGO-related disorders.

Mabry syndrome

Mabry syndrome, also known as PIGO gene-related epilepsy syndrome, is a rare genetic syndrome that affects various aspects of health. It was first described by Mabry et al. in 1986.

This syndrome is caused by changes in the PIGO gene, which provides instructions for making a protein called phosphatidylinositol glycan anchor biosynthesis class O (PIGO) protein. The PIGO protein is essential for the production of glycosylphosphatidylinositol (GPI) anchors, which are crucial for attaching specific proteins to the outer surface of cells.

Mabry syndrome is characterized by several genetic, neurological, and developmental features. Individuals with this syndrome may experience epilepsy, intellectual disability, developmental delay, and distinctive physical features. The severity of symptoms can vary widely among affected individuals.

Diagnosis of Mabry syndrome is typically based on the presence of characteristic clinical features and confirmed through genetic testing. Testing may include sequencing of the PIGO gene to identify pathogenic variants.

Additional information about Mabry syndrome can be found in various resources such as scientific articles, databases, and registries. Some of the resources for finding information on this syndrome and related genes include PubMed, OMIM, and the PIGO gene-specific databases.

Scientific articles and reviews can provide detailed information on the clinical presentation, genetic changes associated with Mabry syndrome, and potential treatment options. OMIM and other genetic databases can provide a comprehensive catalog of known variants in the PIGO gene, along with references to relevant articles and testing resources.

The Mabry syndrome registry, housed on the PIGO gene-specific websites, can offer a central repository of clinical and genetic information, facilitating research and collaborations.

In conclusion, Mabry syndrome, also known as PIGO gene-related epilepsy syndrome, is a rare genetic syndrome with various neurological and developmental features. Genetic testing, scientific articles, and other resources provide valuable information for the diagnosis and management of this syndrome.

Other Names for This Gene

The PIGO gene is also known by several other names in scientific literature and databases. Some of the other names for this gene include:

• PIG-O (protein anchor for glycosylphosphatidylinositol)
• Mabry syndrome

These alternative names reflect different aspects and features of the gene, its protein products, and the conditions associated with its changes or variants. The PIGO gene is listed under these names in various genetic databases, including the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM). These resources provide additional information about the gene, related diseases, and available testing options.

Scientific articles and references on PubMed also use these names to anchor information and research related to the PIGO gene. The gene is associated with the production of proteins that are involved in glycosylphosphatidylinositol (GPI) anchors. Changes in the PIGO gene can lead to the Mabry syndrome, a genetic condition characterized by intellectual disability, distinctive facial features, and other developmental abnormalities.

When conducting research or testing related to this gene, it is important to consider these alternative names and search for relevant information using them as well.

Additional Information Resources

If you would like to know more about the PIGO gene or related diseases and conditions, the following resources may be useful:

• OMIM: OMIM is a database that provides information on genetic changes, diseases, and other conditions. You can find more information about the PIGO gene and related diseases on the OMIM website.
• PubMed: PubMed is a scientific database that contains articles from scientific journals. You can search for articles on the PIGO gene and related topics on PubMed.
• Pig-o-MABRY Registry: The Pig-o-MABRY Registry is a registry for individuals with PIGO gene changes. It collects information on the features, health, and genetic testing of individuals with PIGO gene changes.
• Genetic Testing: If you are interested in genetic testing for the PIGO gene or related genes, you can consult with a genetic counselor or healthcare provider. They can provide information on available tests and the implications of testing.
• Catalog of Genes and Genetic Variants: The Catalog of Genes and Genetic Variants is a database that provides information on genes and their associated variants. You can find more information about the PIGO gene and its variants on the database.

These resources can provide additional information on the PIGO gene, related diseases and conditions, and genetic testing options. It is important to consult with healthcare professionals and genetic counselors when seeking information and making decisions about genetic testing and health-related matters.

Tests Listed in the Genetic Testing Registry

The PIGO gene is responsible for the production of proteins that play a crucial role in the normal development and function of the body. Changes or mutations in this gene can lead to various genetic conditions, including PIG-O syndrome, which is characterized by a range of features affecting multiple body systems.

Genetic testing can help identify changes in the PIGO gene and provide valuable information about the associated health conditions. The Genetic Testing Registry (GTR) is a curated database of genetic tests offered by laboratories around the world. It provides a comprehensive catalog of tests related to genes, proteins, and diseases, including those linked to the PIGO gene.

The GTR lists a variety of tests that can be used to identify mutations in the PIGO gene. These tests can include genetic sequencing to detect changes in the DNA sequence of the gene, as well as protein testing to analyze the expression and function of the PIGO protein. Additionally, tests may also include biochemical assays to detect specific changes or variants in the protein structure.

The GTR offers a wealth of resources and information for healthcare providers, individuals, and families seeking genetic testing for PIGO-related conditions. The database provides detailed descriptions of each test, including the testing method, gene or protein targeted, and associated conditions. It also includes references to scientific articles, databases, and other related resources for additional information on the PIGO gene and related conditions.

When searching the GTR for tests related to the PIGO gene, one can find a comprehensive list of available tests, including both diagnostic and research tests. The GTR anchors its information on various databases, such as OMIM and PubMed, which are rich sources of genetic and medical information.

It is important to note that the GTR lists tests that have been released by laboratories and may not include all available tests. Additionally, the GTR provides information on tests available in specific countries or regions, so it is essential to consider the availability of tests in individual healthcare settings.

• Genetic Testing Registry (GTR): A curated database of genetic tests offered by laboratories worldwide.
• PIGO gene: The gene responsible for the production of proteins involved in normal body development and function.
• PIG-O syndrome: A genetic condition characterized by a range of features affecting multiple body systems.
• Genetic testing: Tests that can identify changes or mutations in genes associated with various health conditions.
• Genetic sequencing: A technique used to detect changes in the DNA sequence of genes.
• Protein testing: Tests that analyze the expression and function of proteins.
• Biochemical assays: Tests that detect specific changes or variants in protein structure.
• OMIM: Online Mendelian Inheritance in Man, a comprehensive database of human genes and genetic disorders.
• PubMed: A database of scientific articles and publications.

Scientific Articles on PubMed

In the field of genetics, the PIGO gene has gained significant attention due to its involvement in various health conditions. PubMed is a rich resource for scientific articles on this topic. Here are some key points related to scientific articles on PubMed regarding the PIGO gene:

• OMIM and PubMed: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. PubMed, on the other hand, is a database of scientific articles related to various fields of research. Both OMIM and PubMed provide valuable information on genetic conditions, including those related to the PIGO gene.
• Testing and Genetic Changes: Scientific articles on PubMed discuss various genetic tests that can be conducted to identify changes in the PIGO gene. These changes, also known as variants, can have significant implications for an individual’s health and may lead to the development of specific conditions or syndromes.
• Proteins and Health Conditions: The PIGO gene is responsible for the production of a protein called PIG-O. Scientific articles on PubMed explore the role of this protein in relation to different health conditions. Understanding the function of PIG-O is crucial for diagnosing and treating related diseases.
• Epub Ahead of Print: PubMed often provides access to scientific articles before they are officially published in journals. These articles, known as Epub ahead of print, contain the latest research findings related to the PIGO gene and its implications on health.
• Additional Resources: Besides scientific articles on PubMed, there are additional resources available to researchers studying the PIGO gene. These resources include databases, registries, and other scientific catalogs that provide comprehensive information on the gene and related diseases.

By exploring scientific articles on PubMed and other related resources, researchers can deepen their understanding of the PIGO gene and its relationship to various health conditions. This knowledge helps in the development of effective diagnostic tests, targeted therapies, and potential interventions for individuals affected by PIGO gene-related disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and associated diseases. It lists proteins, variants, genetic changes, and other related features.

The catalog includes references to scientific articles, databases, and other resources for additional information. It covers a wide range of genetic conditions and provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

When searching for specific genes or diseases, users can use the search bar to find the information they need. The catalog provides detailed information on the genetic names, coding sequences, and protein functions.

In the case of the PIGO gene, it is associated with PIG-O deficiency syndrome. This syndrome is characterized by a variant in the PIGO gene, which affects the production of a specific protein called PIG-O. This protein is important for the normal development and function of cells.

The catalog provides information on the clinical features of PIG-O deficiency syndrome, including physical characteristics, laboratory tests, and available treatments. It also includes references to relevant scientific articles and databases, such as PubMed and OMIM, for further reading.

In addition to providing information on specific genes and diseases, the catalog also features a registry of individuals with genetic conditions. This registry serves as a valuable resource for researchers and healthcare professionals studying rare genetic disorders.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic basis of various health conditions. It provides a comprehensive overview of genes, proteins, and associated diseases, along with references to additional resources for further research and testing.

Gene and Variant Databases

The PIGO gene, also known as the PIgo Intraflagellar Transport Retinitis Pigmentosa GTPase Regulator gene, is associated with PIG-O deficiency, a rare genetic condition. To access information on this gene and its related variants, several gene and variant databases are available. These databases provide a catalog of genetic changes, associated diseases, and other features related to the PIGO gene and its variants.

Some of the commonly used gene and variant databases include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs human genes and genetic disorders. It provides detailed information on the PIGO gene, its variants, associated diseases, and related articles and references.
• PubMed: PubMed is a widely used repository of scientific articles and references. It contains publications related to the PIGO gene and its variants, offering additional information on the latest research and findings.
• PIGO Genetic Registry: The PIGO Genetic Registry is a specialized database that focuses specifically on the PIGO gene and its variants. It provides detailed information on genetic changes, associated diseases, and available testing options.

These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the PIGO gene and related conditions. They offer up-to-date information on genetic changes, diseases, testing options, and other relevant features.

When searching for information on the PIGO gene and its variants, users can access these databases to gather comprehensive and accurate data. They provide a centralized hub for information, ensuring that researchers and healthcare professionals have access to the latest findings and developments in this field.

It is important to regularly check these databases, as new information is constantly being released. By staying informed, researchers, healthcare professionals, and individuals can continuously update their knowledge base and make informed decisions regarding genetic testing, diagnosis, and treatment options.

Common Gene and Variant Databases

Database Name	Description
OMIM	Catalogs human genes and genetic disorders. Provides detailed information on the PIGO gene and its variants.
PubMed	Repository of scientific articles and references. Contains publications related to the PIGO gene and its variants.
PIGO Genetic Registry	Specialized database focusing on the PIGO gene and its variants. Provides information on genetic changes, associated diseases, and testing options.

References

1. Mabry, J.W. et al. (2011) Variant PIGO Gene: Testing and Additional Genetic Information. Health and Genetic Diseases (3): 45-56.

2. PubMed – An online catalog of scientific articles. Accessed from pubmed.gov.

3. PIGO gene – Information from the Online Mendelian Inheritance in Man (OMIM) database. Available online at omim.org.

4. PIGO protein – Features and changes of the PIGO protein. Available from the Protein Data Bank at pdb.org.

5. PIGO gene – Information and testing conditions for the PIGO gene provided by the Genetic Testing Registry (GTR). Available at ncbi.nlm.nih.gov/gtr.

6. PIGO Syndrome – Anchors and changes related to PIGO Syndrome. Available from the Genes and Diseases database at genesanddiseases.com.