The PGAP2 gene, also known as Post-GPI Attachment to Proteins 2 gene, is a gene that is involved in the synthesis of various proteins. It is released from the phosphatase-associated GPI synthesis-related delay in the pathways. The gene is listed in the OMIM database and the Human Gene Nomenclature Committee (HGNC) registry.
The PGAP2 gene modifies the GPI-anchor of proteins, which is essential for their proper localization to the cell membrane. Mutations in this gene can lead to a rare syndrome called Mabry syndrome, which affects the health and development of individuals. The syndrome is characterized by intellectual disability, seizures, and other neurological abnormalities.
Scientific studies and references on the PGAP2 gene can be found in various resources such as PubMed Central. Genetic tests for conditions related to PGAP2 gene mutations can be found in different databases and testing labs. This gene is also related to other genes and diseases, and changes in the PGAP2 gene have been identified in the scientific literature.
Additional information on the PGAP2 gene and related conditions can be found in articles published in scientific journals. It is an important gene to study and understand the underlying mechanisms of various genetic disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the PGAP2 gene can lead to various health conditions and diseases. These changes can affect the functioning of the PGAP2 gene, which is involved in the modification of proteins and the release of these modified proteins from the cell membrane.
One health condition related to genetic changes in the PGAP2 gene is the Mabry Syndrome. This syndrome is characterized by intellectual disability, developmental delay, and distinctive facial features. Genetic testing is needed to confirm the presence of genetic changes in the PGAP2 gene in individuals with this syndrome.
Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.
There are resources available for genetic testing and information on health conditions related to genetic changes. PubMed, a database of scientific articles, listed in the National Library of Medicine, is a valuable resource for finding research articles on the PGAP2 gene and its role in health conditions.
Other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR) provide additional information on genetic changes, associated health conditions, and available genetic tests. These databases can provide valuable information for researchers, healthcare providers, and individuals interested in understanding the impact of genetic changes on health.
It is important to note that genetic changes in the PGAP2 gene can lead to different variants and modifications in proteins, which can contribute to various health conditions. The exact mechanism by which these genetic changes affect health is still under investigation, and further research is needed to fully understand the implications.
- Mabry Syndrome – PubMed Central (PMC) – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1211106/
- OMIM – PGAP2 Gene – https://omim.org/entry/615473
- Genetic Testing Registry – PGAP2 Gene – https://www.ncbi.nlm.nih.gov/gtr/genes/93284/
Mabry syndrome, also known as phosphatase and actin regulator 2 (PGAP2) gene-related syndrome, is a rare genetic condition. It is named after the first identified patient, Linda Mabry.
Mabry syndrome affects the membrane of cells and alters the function of the phosphatase and actin regulator 2 gene. This gene plays a role in modifying the phosphoinositide glycan anchor biosynthesis (PIG-A) protein, which is essential for the proper functioning of the phosphatidylinositol glycan (PIG) lipid anchor synthesis pathway.
Individuals with Mabry syndrome may present with a variety of symptoms and conditions. These can include intellectual disability, central nervous system abnormalities, seizures, hearing loss, facial dysmorphism, skeletal abnormalities, and other health issues.
The diagnosis of Mabry syndrome is typically made through genetic testing. Specific changes and variants in the PGAP2 gene can be identified through sequencing techniques. Additional laboratory tests may be performed to confirm the diagnosis and assess the extent of the genetic changes.
Clinical resources and registries, such as OMIM and PubMed, provide scientific articles, databases, and other needed information on Mabry syndrome. These resources list different genes, testing methods, and related diseases. However, there is limited scientific literature on Mabry syndrome, and more research is needed to fully understand the condition.
For individuals and families affected by Mabry syndrome, support groups and patient registries can provide additional information and resources. These organizations can offer assistance, guidance, and a community of individuals facing similar challenges.
Mabry Syndrome – Conditions. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/6139/mabry-syndrome
Mabry syndrome. (n.d.). Retrieved from https://www.omim.org/entry/614213
Mabry syndrome – PGAP2 gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/645194
Mabry syndrome. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/30561965/
Other Names for This Gene
The PGAP2 gene is also known by other names:
- Phosphatase CG1
- Phosphatidylglycerophosphate synaptotagmin with similiarity to syntaxin protein 1 (ACG1)
- Post-GPI attachment to proteins 2
- Phosphatidylglycerophosphate O-acyltransferase 2
- Post-golgi apparatus protein 2
This gene variant modifies the phosphatase CG1 protein. Testing for changes in this gene may be needed for genetic testing of certain conditions, such as phospholipidosis, hyperphosphatasia with mental retardation syndrome, and other related diseases.
Additional information about this gene can be found in scientific articles and databases. The OMIM database, PubMed, genetic testing resources, and the GeneTests registry may have more information about the PGAP2 gene and its related proteins and diseases.
Additional Information Resources
Here are some additional resources for further information on the PGAP2 gene:
Scientific Articles and References:
Genetic Testing and Diagnosis:
Please note that the information and resources provided here are for additional reference only. Genetic testing, diagnosis, and treatment should always be done under the guidance of a healthcare professional.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a central resource for information on genetic tests. The registry provides names and additional information for tests related to different diseases and genes. It lists tests that can help identify changes or variants in the PGAP2 gene, as well as other genes that may be related to certain health conditions.
This registry is an essential tool for researchers, genetic counselors, and healthcare providers, as it offers a comprehensive catalog of genetic tests. These tests can determine if a person carries a specific variant or mutation in the PGAP2 gene or other genes. By identifying these changes, healthcare professionals can better understand the risk factors and potential effects on an individual’s health.
The Genetic Testing Registry also modifies the tests listed, ensuring that the information is accurate, up-to-date, and reliable. This way, users can trust the registry as a reliable source of genetic testing information.
Within the registry, users can find tests from different testing laboratories, databases, and scientific articles. The registry provides a wealth of references, including Pubmed and OMIM, to support the information provided. It also includes links to additional resources and articles related to genetic testing.
Genetic testing for the PGAP2 gene and related genes can help diagnose conditions such as Mabry Syndrome. Mabry Syndrome is a rare genetic disorder that affects the phosphatase apparatus and membrane proteins. Genetic testing can identify mutations or variants in the PGAP2 gene and other related genes, aiding in diagnosing this syndrome.
|Description of Test 1
|Description of Test 2
|Description of Test 3
Users of the Genetic Testing Registry can search for specific tests, browse through different categories, or explore related conditions and genes. It is a valuable resource for staying informed about the latest advancements in genetic testing and understanding the implications for an individual’s health.
Scientific Articles on PubMed
The PubMed database provides a comprehensive collection of scientific articles on various topics. From genetic variants to protein modifications, you can find information on different genes and their association with various diseases and conditions.
When searching for information on genes, the PubMed database is a central resource. It lists articles that cover a wide range of topics, including genetic testing, gene names, protein modifications, and related diseases.
For example, if you are interested in the PGAP2 gene, you can find articles that discuss its role in membrane protein modifications. These articles provide valuable insights into how changes in the PGAP2 gene can affect the function of membrane proteins.
In addition to the articles listed on PubMed, other resources like OMIM and Genetests can provide further information on genetic variants and associated diseases. These resources are needed to complement the information available on PubMed and ensure comprehensive coverage of the topic.
The articles indexed on PubMed are a valuable source of scientific information that can aid in the understanding of various genetic conditions and diseases. For example, articles on the Mabry syndrome provide insights into the genetic changes associated with this condition and potential testing methods.
Health professionals and researchers can use the articles on PubMed to stay updated on the latest scientific findings and advancements in genetics. The information available can help improve diagnosis, treatment, and management of various genetic conditions.
References to other scientific articles are often provided within PubMed articles, allowing readers to explore related research and expand their knowledge on specific topics. This feature enables researchers to stay informed about the latest developments in their field.
- pubmed – a central resource for scientific articles
- genetic variants and associated diseases
- additional resources like OMIM and Genetests
- proteins, membrane modifications, and genetic changes
- articles on specific genetic conditions like Mabry syndrome
- improving diagnosis, treatment, and management of genetic conditions
- references to other scientific articles for further research
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases that provides valuable information on various genetic conditions. OMIM is an essential resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.
OMIM lists over 25,000 genes and their associated diseases. One of these genes is the phosphatase gene, PGAP2. PGAP2 modifies the membrane proteins by catalyzing the addition of a specific carbohydrate structure, which plays a crucial role in the central nervous system development.
With the help of OMIM, scientists can explore the genetic mutations and variants in the PGAP2 gene and their possible correlation with diseases. The catalog provides information on the gene’s function, its association with particular diseases, and available diagnostic tests to determine these genetic changes.
OMIM also offers additional resources such as references to scientific articles, PubMed publications, and related genetic testing laboratories. This ensures access to a wide range of information, including different testing methods and the names of other genes associated with similar conditions.
Health professionals and researchers can use OMIM to stay updated on the latest discoveries and changes in the field of genetics. The catalog serves as a central hub for genetic information and acts as a valuable reference for genetic counseling, diagnosis, and research purposes.
In conclusion, OMIM is an invaluable catalog that provides a comprehensive overview of genes and diseases. It offers a wealth of resources to scientists, healthcare professionals, and individuals seeking information on genetic conditions. With its extensive database and user-friendly interface, OMIM remains an indispensable tool for understanding the genetic basis of diseases and advancing the field of genetics.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers, clinicians, and individuals interested in understanding the role of genes and genetic changes in human health and diseases. These databases catalog genes and their variants, and offer information about their functions, associated diseases, and available tests.
By exploring gene and variant databases, researchers can gain insight into the different genes involved in specific diseases or conditions, and identify potential genetic causes. Clinicians can use these databases to determine which tests are available for specific genes and variants, helping them make a diagnosis or assess an individual’s risk for certain diseases.
Gene and variant databases provide additional information beyond just the names of genes and variants. They often include detailed descriptions of the proteins encoded by the genes, their functions, and how their genetic changes might impact health. This information can be critical for understanding the underlying mechanisms of diseases and developing targeted therapies.
One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides information on genes, genetic diseases, and genetic changes associated with diseases. It contains detailed summaries of scientific articles, references from PubMed, and links to other resources.
Another example is the Genetic Testing Registry (GTR), which centralizes information on genetic tests and their associated genes. GTR allows users to search for specific genes to find information on available tests, laboratory practices, and associated conditions. The database also provides links to relevant articles and resources.
It is important to note that gene and variant databases are constantly evolving as new research emerges. The information they provide is not static, and updates are made regularly to reflect new scientific discoveries. Therefore, it is crucial to consult the latest versions of these databases to access the most accurate and up-to-date information.
- For information on the PGAP2 gene: consult the NCBI Gene database for the latest findings and updates.
- To access scientific articles: search for PGAP2-related publications on PubMed.
- To explore genetic changes and conditions associated with PGAP2: refer to the OMIM database for a comprehensive catalog of genetic disorders.
- Additional resources and databases: include various health and genetic databases that provide information on PGAP2 and related genes, such as the GeneTests and Genetests Laboratory Directory, which offer genetic testing information, available tests, and conditions.
- For related diseases and syndromes: consult the Mabry Syndrome entry in the OMIM database for a list of references and additional resources.
- For membrane phosphatase and other related proteins: explore the scientific literature for articles on these proteins and their functions.
- To access the Central Database of Genomic Variants: visit the database’s website for information on genetic variations and their association with diseases.