The PPT1 gene is responsible for producing an enzyme called palmitoyl-protein thioesterase 1. This enzyme plays a crucial role in breaking down certain fatty acids in the body. Mutations in the PPT1 gene can lead to a rare neurodegenerative disorder called CLN1 disease, also known as Infantile Neuronal Ceroid Lipofuscinosis.

CLN1 disease is a condition that primarily affects the nervous system. It typically occurs in early childhood and leads to a progressive deterioration of motor skills and cognitive function. Symptoms may include seizures, difficulties with coordination and balance, visual impairment, and loss of previously acquired skills.

Information about the PPT1 gene can be found in scientific databases such as PubMed and OMIM. These resources provide additional information about the gene, its variants, and related conditions. PubMed includes articles and references related to the PPT1 gene, while OMIM provides a catalog of genetic tests and changes in the gene associated with CLN1 disease.

Testing for mutations in the PPT1 gene is available through specialized laboratories and can help confirm a diagnosis of CLN1 disease. This testing may involve sequencing the gene to identify any changes or variants that have occurred. The results of these tests can provide important information about the condition and help guide treatment and management options.

Health Conditions Related to Genetic Changes

Genetic changes in the PPT1 gene are typically associated with certain health conditions. These changes can lead to the production of a variant form of the PPT1 enzyme, resulting in diseases related to neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinosis refers to a group of disorders characterized by the abnormal buildup of lipopigments in the nerve cells of the central nervous system.

The condition known as CLN1 disease, also called infantile neuronal ceroid lipofuscinosis, is caused by changes in the PPT1 gene. This disease usually appears during infancy and is characterized by progressive deterioration of motor and mental abilities. Individuals with CLN1 disease typically experience seizures, visual impairment, and intellectual disability.

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Health-related resources that provide information on genetic changes in the PPT1 gene and related conditions can be found in scientific databases such as PubMed and the Genetic Testing Registry. These databases contain articles and references related to these conditions and genes. Additionally, certain online catalogs and registries provide further information and testing resources for these conditions.

References:

1. CLN1 disease – PubMed
2. Infantile neuronal ceroid lipofuscinosis (CLN1)
3. GeneTests: CLN1-related NCL

CLN1 disease

CLN1 disease, also known as neuronal ceroid lipofuscinosis type 1, is a genetic condition caused by mutations in the PPT1 gene.

This disease is characterized by the accumulation of lipopigments in different tissues, including the nerve cells of the brain. It affects the central nervous system and leads to progressive degeneration of neurological functions.

Individuals with CLN1 disease typically exhibit symptoms such as seizures, vision loss, cognitive decline, and movement disorders. The onset and severity of symptoms can vary among affected individuals.

Testing for CLN1 disease involves genetic tests to identify mutations in the PPT1 gene. These tests can be performed using different techniques, including sequencing the gene or specific variant testing.

Additional information about CLN1 disease, including its symptoms, diagnosis, management, and support, can be found in various resources.

• Online Mendelian Inheritance in Man (OMIM): A comprehensive database that provides information on genetic conditions and the genes associated with them. OMIM provides detailed articles on CLN1 disease and other related conditions.
• PubMed: A scientific database that contains a vast collection of research articles on various topics. Searching for “CLN1 disease” in PubMed can provide additional scientific references and articles related to this condition.
• GeneReviews: A comprehensive online resource that provides information on genetic conditions and related genes. The GeneReviews article on CLN1 disease provides detailed information on the condition, including clinical features, testing strategies, and management options.
• The NCL Registry: A database that collects and shares information on individuals with neuronal ceroid lipofuscinoses (NCLs), including CLN1 disease. This registry can provide resources and support for individuals affected by this condition.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of CLN1 disease. They can provide personalized information and guidance based on individual circumstances.

Other Names for This Gene

The PPT1 gene is also known by other names:

• Thioesterase, also known as palmitoyl-protein thioesterase 1
• CLN1 gene, which stands for ceroid-lipofuscinoses, neuronal 1 gene

These names are typically listed in scientific databases and resources related to genetic testing, disease registries, and health information.

Additional names and variant changes may occur in certain diseases or conditions related to the PPT1 gene.

References for this gene can be found in scientific databases like OMIM, PubMed, and the Genetic Testing Registry.

Additional Information Resources

• PubMed: A database of scientific articles that provides information on diseases, genes, and variants. PubMed is a valuable resource for finding articles on PPT1 gene and related conditions.
• OMIM: Online Mendelian Inheritance in Man is a catalog of human genetic conditions that includes information on the PPT1 gene. OMIM can provide further details on the disease and its associated symptoms.
• GeneReviews: This resource provides comprehensive information on genetic disorders, including those related to the PPT1 gene. It offers clinical descriptions and recommendations for testing and management.
• Neuronal Ceroid Lipofuscinosis (NCL) Registries: NCL registries are central databases that collect information on individuals with this condition. They serve as a resource for connecting patients, researchers, and healthcare professionals.
• Scientific Articles: In addition to PubMed, scientific articles provide in-depth information on the PPT1 gene and its role in neuronal ceroid lipofuscinosis. These articles are valuable resources for understanding the genetic basis and mechanisms underlying the disease.
• Genetic Testing: Genetic testing laboratories may offer specific tests for mutations in the PPT1 gene. Information on these tests, including availability and procedures, can be obtained from the respective labs or genetic testing directories.

Tests Listed in the Genetic Testing Registry

Genetic testing is typically used to identify changes or variants in certain genes that are associated with specific conditions. The Genetic Testing Registry (GTR) is a central registry of genetic tests and their associated information.

The PPT1 gene is one of the genes listed in the GTR. It is associated with a condition called CLN1 disease, also known as neuronal ceroid lipofuscinosis 1. This disease occurs when there is a variation or change in the PPT1 gene, which affects the production of a certain protein involved in nerve cell health.

The GTR provides information on the tests available for the PPT1 gene. It includes scientific articles, references, and resources from databases such as PubMed and OMIM. These resources can be found in the GTR catalog for the PPT1 gene.

Additional information on testing for changes in the PPT1 gene can also be found in PubMed. PubMed is a database that provides access to scientific articles and references related to various genes and diseases.

Tests listed in the GTR for the PPT1 gene include:

• Diagnostic tests for CLN1 disease
• Carrier testing for individuals with a family history of CLN1 disease
• Preimplantation genetic testing for couples at risk of having a child with CLN1 disease

These tests can help identify individuals who have a variation in the PPT1 gene and are at risk of developing CLN1 disease or passing it on to their children.

Overall, the Genetic Testing Registry provides valuable information on the tests available for the PPT1 gene and its association with CLN1 disease. It serves as a comprehensive resource for researchers, healthcare professionals, and individuals seeking information on genetic testing for various conditions.

Scientific Articles on PubMed

The PPT1 gene, also known as the CLN1 gene, is associated with a disease condition called Neuronal Ceroid Lipofuscinosis 1 (CLN1). This disease affects the production of a specific enzyme called palmitoyl-protein thioesterase 1. Mutations in the PPT1 gene lead to a decrease or absence of this enzyme, causing the accumulation of lipofuscin in nerve cells.

• PubMed is a central resource for accessing scientific articles related to genes, diseases, and conditions. It replaces the older version of the CLN1 gene name with PPT1 in its catalog of articles.
• By testing individuals for mutations in the PPT1 gene, healthcare professionals can diagnose CLN1 disease and other related conditions.
• PubMed provides a wealth of information on genes and diseases, along with references to additional resources and databases.

Scientific articles related to the PPT1 gene can be found on PubMed. Some changes in the gene name can be observed in the articles, typically replacing CLN1 with PPT1.

PubMed also lists articles on CLN1 disease, along with associated genes, testing methods, and other related conditions. This information is invaluable for researchers, healthcare providers, and individuals seeking to learn about CLN1 disease and its genetic basis.

The PubMed database is a valuable tool for accessing scientific articles on the PPT1 gene and related topics. It provides a comprehensive catalog of research articles, including those published in reputable scientific journals, epub ahead of print, and other reliable sources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases related to the PPT1 gene. PPT1 is a genetic variant that is listed in OMIM, a registry of human genes and genetic conditions. This variant has been extensively studied and documented in scientific articles and publications, which can be found in the OMIM and PubMed databases.

The PPT1 gene is associated with a neuronal disease called CLN1 disease, which occurs when certain changes and mutations in the gene lead to the production of a non-functioning enzyme. This enzyme, known as palmitoyl-protein thioesterase 1, is responsible for breaking down certain fats in nerve cells. In individuals with CLN1 disease, the absence of functional PPT1 enzyme leads to the buildup of these fats and the subsequent degeneration of nerve cells.

In addition to CLN1 disease, the Catalog of Genes and Diseases from OMIM also provides information on other diseases and conditions related to the PPT1 gene. These include various forms of CLN disease, as well as other central nervous system disorders.

This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and related topics. It provides comprehensive information on genes, diseases, and their associated symptoms, as well as references to scientific articles and additional resources for further reading.

References

• OMIM: https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/

Gene and Variant Databases

Gene and variant databases play a crucial role in providing information about conditions and diseases, as well as scientific research related to genes. These databases serve as a central catalog for genes and variant information, allowing researchers and healthcare professionals to easily access and search for relevant data.

One of the most commonly used gene databases is PubMed, which is an extensive resource for scientific articles and publications. It provides a wealth of information on genes, variants, and their association with various conditions. Additionally, PubMed lists references to other gene databases and resources for further exploration.

In the context of the PPT1 gene, which is related to neuronal diseases, several databases are particularly relevant. The Online Mendelian Inheritance in Man (OMIM) database, for instance, provides comprehensive information on genetic conditions and their associated genes. It includes data on the PPT1 gene, along with other genes known to be involved in specific neurological disorders.

Furthermore, databases like the CLN1 database specifically focus on the PPT1 gene and the changes found in individuals with CLN1 disease, a rare neuronal disorder. These databases serve as registries of genetic information and provide resources for genetic testing and research on related conditions.

Testing and production resources for genetic testing, such as the CLN1 registry, often refer to these gene and variant databases to gather and analyze data. This helps in identifying potential disease-causing variants and understanding the underlying mechanisms of the condition.

In conclusion, gene and variant databases play a crucial role in providing scientific information related to genes and their association with diseases. They serve as central catalogs for genes and variant information, allowing researchers and healthcare professionals to access and utilize this information for further research, testing, and improving health outcomes.

References

• ppt1. Genes – PubMed. [online]. Available at: https://www.ncbi.nlm.nih.gov/gene/5538 [Accessed 1 Jan 2022].
• Additional information on ppt1. Online Mendelian Inheritance in Man. [online]. Available at: https://omim.org/entry/600722 [Accessed 1 Jan 2022].
• ppt1 gene. Genetic Testing Registry. [online]. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/5538/ [Accessed 1 Jan 2022].
• This disease variant testing in ppt1 gene. Pubmed – PubMed. [online]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ppt1+gene+testing [Accessed 1 Jan 2022].
• Changes in ppt1 gene associated with CLN1 condition. Genetic Testing Registry. [online]. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0175697 [Accessed 1 Jan 2022].
• Gene names and changes in ppt1. OMIM – PubMed. [online]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ppt1+gene+names [Accessed 1 Jan 2022].
• Pubmed resources on ppt1 gene. PubMed Central. [online]. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472381/ [Accessed 1 Jan 2022].
• OMIM resources on ppt1 gene and related conditions. OMIM – PubMed. [online]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ppt1+gene+OMIM [Accessed 1 Jan 2022].
• Genetic information on CLN1 condition and ppt1 gene. Genetic Testing Registry. [online]. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0175697 [Accessed 1 Jan 2022].
• Certain nerve-related diseases associated with ppt1 gene. OMIM – PubMed. [online]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ppt1+gene+nerve+diseases [Accessed 1 Jan 2022].
• Listed references for ppt1 gene and related research. Pubmed – PubMed. [online]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ppt1+gene+references [Accessed 1 Jan 2022].
• ppt1 gene and neuronal thioesterase. PubMed Central. [online]. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472381/ [Accessed 1 Jan 2022].