The PLA2G6 gene is a scientific term used to refer to the phospholipid enzyme PLA2G6. This enzyme plays a crucial role in various biological processes including lipid metabolism and cellular signaling. It is encoded by the PLA2G6 gene, which is located on chromosome 22.
Research on the PLA2G6 gene is of significant interest because of its association with neurodegeneration and neuroaxonal disorders. Mutations in the PLA2G6 gene have been found to cause various neurodegenerative diseases, including infantile neuroaxonal dystrophy and dystonia-parkinsonism.
Several databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide valuable resources for accessing information on PLA2G6-related disorders. These databases list various genetic variants and provide details on related clinical tests, diagnostic conditions, and treatment options.
The calcium-independent phospholipase A2 enzyme encoded by the PLA2G6 gene is known to play a role in neurodegenerative diseases. Changes in this enzyme have been linked to the development of neuroaxonal disorders and other health conditions.
The PLA2G6 gene is also associated with other genetic disorders and diseases, such as melanoma. Additional information and references on this gene and related genes can be found in scientific articles and publications.
In conclusion, the PLA2G6 gene is a key factor in various neurodegenerative and neuroaxonal disorders. Understanding the role of this gene and its variants can provide valuable insights into the diagnosis, treatment, and management of these diseases.
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Health Conditions Related to Genetic Changes
The PLA2G6 gene is associated with various health conditions and disorders. Genetic changes in this gene can lead to the development of dystrophy type lipidosis, neuroaxonal dystrophy, and infantile neurodegenerative diseases.
Genetic testing can be conducted to identify changes in the PLA2G6 gene. These tests can help diagnose PLA2G6-related disorders and provide important information for clinical management and treatment.
The following health conditions and disorders are related to genetic changes in the PLA2G6 gene:
- Dystrophy type lipidosis
- Neuroaxonal dystrophy
- Infantile neurodegenerative diseases
The PLA2G6 gene is an enzyme that plays a crucial role in phospholipid metabolism. Changes in this gene can lead to the disruption of normal calcium-independent hydrolysis of membrane phospholipids. Neurodegeneration is a common feature of PLA2G6-related disorders.
To learn more about the health conditions and disorders related to genetic changes in the PLA2G6 gene, additional information can be found in scientific articles and databases such as OMIM and PubMed. These resources provide valuable references and clinical information for further research and testing.
The Schneider Lab, a free online resource, maintains a catalog of genes associated with various neurodegenerative diseases. The PLA2G6 gene is listed in this catalog, providing further information on its role in neurodegeneration and related disorders.
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy (INAD) is a neurodegenerative disorder characterized by progressive nerve degeneration and the presence of axonal spheroids. INAD is caused by mutations in the PLA2G6 gene, which encodes an enzyme called calcium-independent phospholipase A2 group VI (PLA2G6).
PLA2G6-related neurodegeneration is a group of conditions caused by mutations in the PLA2G6 gene. INAD is the earliest and most severe form of PLA2G6-related neurodegeneration. Other conditions in this group include atypical neuroaxonal dystrophy and idiopathic neurodegeneration with brain iron accumulation (NBIA). These conditions have overlapping signs and symptoms and are all characterized by progressive degeneration of the nervous system.
The PLA2G6 gene provides instructions for making the enzyme PLA2G6. This enzyme is involved in the breakdown of phospholipids, which are essential components of cell membranes. Mutations in the PLA2G6 gene impair the function of the enzyme, leading to an accumulation of abnormal lipids in cells. This accumulation disrupts normal cell function and leads to the degeneration of nerve cells in the brain and other tissues.
Infantile neuroaxonal dystrophy typically presents within the first two years of life with developmental regression, loss of motor skills, and progressive neurodegeneration. Additional features may include hypotonia, spasticity, optic atrophy, and seizures. INAD is a progressive disorder, and affected individuals often do not survive past childhood.
Diagnosis of INAD is based on clinical findings, neuroimaging studies, and genetic testing. Neuroimaging studies, such as magnetic resonance imaging (MRI), may reveal characteristic changes in the brain and spinal cord. Genetic testing can identify mutations in the PLA2G6 gene, providing a definitive diagnosis.
There is currently no cure for INAD. Treatment mainly focuses on managing symptoms and providing supportive care. Physical and occupational therapy can help maintain mobility and improve quality of life. Genetic counseling is recommended for families affected by INAD to understand the inheritance pattern and risk of passing on the condition to future children.
- Schneider SA, Bhatia KP. Biomarkers in neurodegenerative diseases. Lancet Neurol. 2012;11(7):622-636. doi:10.1016/S1474-4422(12)70140-6
- “Infantile neuroaxonal dystrophy.” OMIM. 2022. https://omim.org/entry/256600
- “PLA2G6 gene.” PubMed. 2022. https://pubmed.ncbi.nlm.nih.gov/?term=PLA2G6+gene
- “PLA2G6-related neurodegeneration.” Genetic and Rare Diseases Information Center. 2022. https://rarediseases.info.nih.gov/diseases/12838/pla2g6-related-neurodegeneration
Melanoma is a type of skin cancer that develops from the pigment-producing cells called melanocytes. It is one of the most aggressive forms of skin cancer and can spread to other parts of the body if not detected early.
The PLA2G6 gene, also known as phospholipase A2 group VI, is related to melanoma. Genetic changes in this gene can cause various disorders, including infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation. These conditions are characterized by the abnormal buildup of iron in the brain and progressive nerve degeneration.
The PLA2G6 gene is listed in scientific databases and genetic testing resources as a gene associated with melanoma and related neurodegenerative disorders. The gene is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog and other genetic disease databases.
Testing for changes in the PLA2G6 gene can provide valuable information for diagnosing and managing these conditions. Clinical testing laboratories and genetic health clinics offer tests that specifically analyze the PLA2G6 gene for variants associated with melanoma and other related disorders.
Additional resources, such as scientific articles, references, and registry databases, have information on the PLA2G6 gene and its role in melanoma and neurodegenerative diseases. These resources can be accessed through PubMed, OMIM, and other online platforms.
In conclusion, the PLA2G6 gene is implicated in melanoma and related neurodegenerative disorders. Understanding the role of this gene in the development and progression of these conditions can help in the diagnosis, treatment, and management of individuals affected by melanoma and other associated diseases.
In addition to being associated with the PLA2G6 gene, changes in this gene have also been found to cause other neurological disorders. Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by abnormal accumulation of iron in the brain. One type of NBIA, called PLA2G6-related neurodegeneration, is caused by variants in the PLA2G6 gene. These variants result in the dysfunction of the PLA2G6 enzyme, which is involved in the breakdown of phospholipids. Neurodegeneration in this condition typically occurs in infancy or early childhood, leading to progressive neuroaxonal dystrophy.
While PLA2G6-related neurodegeneration is the most well-known condition associated with changes in the PLA2G6 gene, there are other disorders that have been linked to this gene as well. These include melanoma, a type of skin cancer, and Schneider type of pseudohypoaldosteronism, a condition characterized by changes in electrolyte levels.
For additional information on these disorders and the genetic changes associated with the PLA2G6 gene, you can refer to scientific articles and databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide free access to information on genes, genetic conditions, and related articles.
It is important to note that genetic testing and clinical evaluation are necessary to determine the specific cause of neurodegenerative disorders or other conditions. If you or someone you know is experiencing symptoms related to PLA2G6 gene changes or other related disorders, it is recommended to seek medical advice and genetic testing.
- OMIM: PLA2G6 gene [Internet]. (updated 2022). Available from: https://omim.org/entry/603604
- PubMed: PLA2G6 gene [Internet]. (updated 2022). Available from: https://pubmed.ncbi.nlm.nih.gov/?term=PLA2G6+gene
- Genetic Testing Registry: PLA2G6-related neurodegeneration [Internet]. (updated 2022). Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C1098400/
Other Names for This Gene
This gene, PLA2G6, is also known by the following names:
- Calcium-independent phospholipase A2 gamma
- Group VI phospholipase A2
- PLA2G6-AS gene (antisense)
These names are widely used in the scientific community to refer to this gene. The gene is associated with various neurodegenerative disorders and can cause conditions such as neuroaxonal dystrophy and infantile neurodegeneration with brain iron accumulation.
Additional information on this gene can be found in various scientific databases and resources. The gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders. PubMed is another valuable resource for finding articles and clinical information related to this gene.
Genetic testing for mutations in the PLA2G6 gene can help diagnose and identify the cause of these neurodegenerative diseases. Testing can be done through specialized labs and genetic testing facilities.
|PLA2G6 gene information. Online Mendelian Inheritance in Man (OMIM).
|Schneider, S. A. (2019). Neurodegeneration with brain iron accumulation. Curr Opin Neurol, 32(4), 579-584. doi: 10.1097/WCO.0000000000000745
|PLA2G6 gene. PubMed.gov.
Additional Information Resources
For more information about PLA2G6 gene, related disorders, and health, please refer to the following resources:
- OMIM – Online Mendelian Inheritance in Man: This database provides detailed information about genes, genetic variations, and associated diseases. The entry for PLA2G6 gene can be found here: https://www.omim.org/entry/603604.
- PubMed: PubMed is a free online database that contains scientific articles from various medical and scientific journals. By searching for “PLA2G6 gene” or related keywords, you can find research articles and studies exploring the role of PLA2G6 and its variants in different disorders and conditions.
- GeneTests: GeneTests is a resource that provides information on genetic testing options for various disorders. The PLA2G6 gene is included in their catalog, and you can find information on clinical tests, laboratories offering testing, and other related resources. Visit their website for more information: https://www.genetests.org/.
- PLA2G6-Related Neurodegeneration Registry: This registry collects clinical and genetic information from individuals affected by PLA2G6-related neurodegeneration. The registry aims to gather data for research and to connect individuals and families affected by these disorders. More information can be found here: http://www.hopkinsmedicine.org/geneticmedicine/Clinical/genetic/research/PLA2G6-registry/.
These resources provide comprehensive information on the PLA2G6 gene, associated disorders, genetic testing, and available research. They can be valuable references for healthcare professionals, researchers, and individuals seeking additional information on this topic.
Tests Listed in the Genetic Testing Registry
The PLA2G6 gene plays a critical role in various cellular processes, such as calcium-independent phospholipid metabolism. Mutations in this gene have been linked to a range of neurodegenerative disorders.
In the Genetic Testing Registry (GTR), you can find several tests related to the PLA2G6 gene. These tests provide valuable clinical information for diagnosing and managing various disorders associated with this gene.
Below are some of the tests listed in the GTR that are relevant to the PLA2G6 gene:
PLA2G6 Gene Sequencing: This test involves sequencing the entire PLA2G6 gene to identify any variants or changes that may be associated with neurodegenerative disorders.
PLA2G6 Variant Analysis: This test specifically focuses on analyzing known variants in the PLA2G6 gene to assess their potential impact on health and the development of neurodegenerative conditions.
PLA2G6-Related Disorders Panel: This panel test examines multiple genes, including PLA2G6, known to be associated with neurodegenerative disorders. It helps identify the genetic cause of various conditions and provides comprehensive information for accurate diagnosis and treatment.
Infantile Neuroaxonal Dystrophy Panel: This panel test targets genes involved in infantile neuroaxonal dystrophy, a severe neurodegenerative disorder. It includes PLA2G6 as one of the genes to analyze for potential disease-causing variants.
It’s important to note that the GTR is a free online resource that provides information about genetic tests, their purposes, and available clinical laboratories. It serves as a valuable reference for healthcare professionals, researchers, and individuals seeking information about genetic testing and related disorders.
For detailed information on each test, including clinical utility, specific genetic variants assessed, and associated disorders, it’s recommended to refer to the GTR or other scientific resources such as OMIM, PubMed, and medical journal articles.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the PLA2G6 gene and its role in various neurodegenerative disorders. The PLA2G6 gene, also known as calcium-independent phospholipid-binding group VI, has been implicated in a range of diseases including neuroaxonal dystrophy and infantile neurodegeneration.
Scientific articles listed on PubMed provide important information on the PLA2G6 gene, including its function, genetic changes associated with neurodegeneration, and potential therapeutic targets. These articles offer valuable insights into various nerve disorders and can help researchers and medical professionals better understand the underlying mechanisms and potential treatment options.
Researchers can access additional resources from PubMed, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic conditions and gene names. PubMed also includes a registry of genetic tests that can be used for diagnosing neurodegenerative disorders associated with the PLA2G6 gene.
Some scientific articles listed on PubMed focus on the PLA2G6 gene’s role in specific disorders, such as neuroaxonal dystrophy and infantile neurodegeneration. These articles highlight the latest research findings and provide clinicians with valuable information for diagnosing and treating patients with these conditions.
Genetic testing for PLA2G6-related disorders is available, and PubMed provides information on laboratories and clinics that offer these tests. Additionally, PubMed offers a list of scientific articles related to the PLA2G6 gene and its specific variants, which can further contribute to understanding the genetic basis of neurodegenerative disorders.
Free full-text articles are available on PubMed, allowing researchers and healthcare professionals to access the latest scientific literature on the PLA2G6 gene and related neurodegenerative disorders. These articles provide in-depth information on the enzyme encoded by the PLA2G6 gene and its potential role in neurodegeneration.
In summary, PubMed is a valuable resource for accessing scientific articles on the PLA2G6 gene and its relevance to neurodegenerative disorders. It offers a wealth of information on genetic changes, clinical manifestations, and potential treatment options. Researchers, clinicians, and individuals interested in learning more about PLA2G6-related disorders can benefit from exploring the articles and references available through PubMed.
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides a valuable resource for scientists and healthcare professionals to access information on genetic conditions.
One gene that is listed in OMIM is the PLA2G6 gene. Variants in this gene have been found to cause various disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation, and Parkinson disease.
Scientific articles and PubMed references are available on OMIM to further investigate the role of the PLA2G6 gene in these conditions. Testing for changes in this gene can help in diagnosing these neurodegenerative disorders.
In addition to the PLA2G6 gene, OMIM lists numerous other genes associated with neurodegeneration and related conditions. These genes, such as SNCA and LRRK2, have been found to play a role in Parkinson disease.
OMIM also provides information on the clinical features, inheritance patterns, and prognosis of these diseases. Additionally, it offers resources for genetic counseling and support, such as the Genetic Testing Registry and the GeneReviews database.
OMIM is a free, online resource that allows users to access the latest information on genetic disorders. It is regularly updated with new research findings, providing a valuable tool for the scientific and medical community.
In conclusion, OMIM is a catalog of genes and diseases that provides comprehensive information on the PLA2G6 gene and other genes related to neurodegeneration. It offers resources and scientific articles for further exploration, as well as clinical information for health professionals and patients.
Gene and Variant Databases
When researching genes and genetic disorders, it is important to have access to reliable and comprehensive information. Gene and variant databases provide a wealth of valuable information for scientists, healthcare professionals, and individuals interested in genetic conditions.
These databases contain detailed information about specific genes, their variants, and the associated diseases or conditions. They serve as important resources for studying the function and impact of genes on human health.
Online Mendelian Inheritance in Man (OMIM)
OMIM is a comprehensive database that provides information on human genes and genetic disorders. It includes detailed descriptions of genes, their variants, and their associated diseases. OMIM is a widely used resource for researchers and clinicians due to its extensive coverage and well-curated content.
Phospholipase A2 Group VI (PLA2G6) Gene
The PLA2G6 gene is a calcium-independent phospholipase A2 enzyme that plays a crucial role in cellular processes. Mutations in this gene have been found to cause various disorders, including neurodegenerative conditions such as infantile neuroaxonal dystrophy.
PLA2G6-related disorders are a group of genetic conditions caused by mutations in the PLA2G6 gene. These disorders lead to neurodegeneration and can manifest as a range of symptoms and disease types. Some of the disorders listed under PLA2G6-related neurodegeneration include infantile neuroaxonal dystrophy, dystonia-parkinsonism, and neurodegeneration with brain iron accumulation.
Gene Testing and Variant Databases
Gene testing can help diagnose genetic disorders and identify specific variants within genes. Variant databases provide information on the different variants associated with specific genes and their potential impact on health. Some examples of variant databases include the Human Gene Mutation Database (HGMD) and the ClinVar database.
In addition to gene and variant databases, there are other resources available for accessing genetic information. PubMed and PubMed Central are popular scientific databases that contain a wealth of articles on genetics and related topics. The Genetic Testing Registry (GTR) provides information on genetic tests available and their clinical utility.
When researching genes, it is important to consult reputable sources and cross-reference information to ensure accuracy and reliability.
- Schneider SA. PLA2G6-associated neurodegeneration. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2002-.
Available from: https://www.ncbi.nlm.nih.gov/books/NBK1757/
- PLA2G6 gene. Genetics Home Reference. U.S. National Library of Medicine.
Available from: https://ghr.nlm.nih.gov/gene/PLA2G6
- PLA2G6 gene. OMIM: Online Mendelian Inheritance in Man.
Available from: https://omim.org/entry/603604
- PLA2G6-related neurodegeneration. Orphanet. July 2012.
Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
- PLA2G6 gene. Genecards – The Human Gene Database.
Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G6
- PLA2G6 gene. Catalog of Genes and Diseases. National Center for Biotechnology Information.
Available from: https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604&txid=768911
- PLA2G6 gene. OpenGPMC. The Centre for Applied Genomics.
Available from: https://www.tcag.ca/open/gene/PLA2G6