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The CLN3 gene, also known as the ceroid-lipofuscinosis, neuronal 3 gene, plays a vital role in maintaining the health of nerve cells. This gene is associated with a group of disorders known as CLN3-associated neuronal ceroid lipofuscinosis (NCLs). The CLN3 gene encodes a protein that helps in the maintenance of normal cell functions.

Scientific evidence and research studies have confirmed the importance of the CLN3 gene in various health conditions. Its role has been extensively studied, and the gene has been listed in numerous databases, including OMIM, Genetests, and PubMed. These databases provide comprehensive information on the function, effects, and changes associated with the CLN3 gene.

Deletion or changes in the CLN3 gene result in CLN3-associated NCLs, a neurodegenerative disorder that primarily affects the visual system. Individuals with CLN3-associated NCLs often experience progressive vision loss and other neurological symptoms. The CLN3 gene is vital for the maintenance of normal cell functions, and any alterations in its structure or expression can have significant consequences on overall health.

Further research is ongoing to understand the exact mechanisms and pathways involving the CLN3 gene. Scientists are studying the effects of CLN3 gene mutations in order to develop better diagnostic tests and treatment options for CLN3-associated NCLs. The CLN3 gene also serves as a target for potential therapeutic interventions.

In conclusion, the CLN3 gene plays a crucial role in maintaining normal cell functions, especially in nerve cells. Deletion or changes in this gene can result in CLN3-associated NCLs, a neurodegenerative disorder primarily affecting the visual system. Extensive research and numerous references can be found in databases such as OMIM, Genetests, and PubMed. Further scientific studies are being conducted to better understand the effects and mechanisms of the CLN3 gene, which may lead to improved diagnostic tests and treatment options for CLN3-associated NCLs.

Genetic changes in the CLN3 gene can lead to various health conditions. The CLN3 gene, also known as the ceroid-lipofuscinosis, neuronal 3 gene, provides instructions for making a protein called cln3-associated transmembrane protein. Changes in this gene can result in the production of an abnormal protein or a complete absence of the protein. These changes can disrupt the normal maintenance and function of cells throughout the body.

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The most common health condition related to genetic changes in the CLN3 gene is a group of disorders known as the neuronal ceroid lipofuscinoses (NCLs), or Batten disease. NCLs are a group of rare genetic diseases that primarily affect the nervous system. They are characterized by the abnormal buildup of lipopigment called ceroid lipofuscin in different tissues and organs of the body.

There are several types of NCLs, with CLN3-associated NCL being the most common form. This form is caused by a deletion or changes in the CLN3 gene. It typically begins in childhood, leading to vision loss, cognitive decline, seizures, and movement impairments. Other symptoms may include sleep disturbances, behavior changes, and psychiatric problems.

Genetic testing can be used to diagnose CLN3-associated NCL. This testing involves analyzing the CLN3 gene for specific changes or variants. Testing may be done using a variety of techniques, including gene sequencing, deletion/duplication analysis, and biochemical testing to detect abnormalities in the proteins produced by the CLN3 gene.

Scientists and researchers continue to study the CLN3 gene and its role in health and disease. Numerous scientific articles and resources are available that provide additional information on CLN3-associated health conditions. These resources can be found in scientific databases, such as PubMed, OMIM, and Genet, as well as in the references section of articles and books.

In addition to genetic testing, there are other tests and examinations that may be used to diagnose and manage CLN3-associated health conditions. These include visual and neurological exams, brain imaging, electroencephalography (EEG), and skin or tissue biopsies to examine the accumulation of lipopigments.

It is important for individuals with CLN3-associated health conditions to receive the appropriate medical care and support. The Batten Disease Support and Research Association (BDSRA) provides resources, support, and information for individuals and families affected by CLN3-associated NCL. The BDSRA maintains a registry of individuals with Batten disease and provides access to additional resources, research studies, and clinical trials.

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CLN3 disease

CLN3 disease is a cln3-associated form of neuronal ceroid lipofuscinosis, which is caused by mutations in the CLN3 gene. This disease is listed in the Online Mendelian Inheritance in Man (OMIM) and other genetic databases.

The CLN3 gene, also known by different names in different databases, plays a crucial role in the maintenance of normal cells. Mutations in this gene result in cellular and visual effects, leading to the development of CLN3 disease.

Testing for mutations in the CLN3 gene can be done using various genetic testing resources, as well as through references and articles listed in scientific databases like PubMed. These tests help in diagnosing the disease and understanding its effects on the body.

CLN3 disease is a neurodegenerative disorder that affects nerve cells. The effects of the CLN3 gene deletion can lead to various symptoms and conditions. Additional disorders and conditions may be listed throughout the scientific literature and genetic databases.

Research on CLN3 disease and related genes is ongoing, which helps in understanding its underlying mechanisms and potential treatments. The CLN3 gene and its associated disease have been studied extensively in scientific research and clinical studies.

A registry for CLN3 disease and related disorders is available to collect and share information about affected individuals. This registry helps in tracking and providing support for patients and their families.

Other disorders

The CLN3 gene plays a significant role in the development of several disorders. Testing for the CLN3 gene deletion is carried out throughout the scientific community to detect genetic changes associated with these conditions. Some of the additional CLN3-associated diseases and conditions include:

  • CLN3-related neuronal ceroid lipofuscinosis (NCL)
  • CLN3-associated retinal degeneration
  • CLN3-related juvenile-onset epilepsy

References to these disorders can be found in databases such as PubMed, OMIM, and the NCL disease cell registry. Numerous articles have been published on the effects of CLN3 mutations and their cellular changes.

In addition to the CLN3 gene, other genes and proteins are also involved in these disorders, resulting in various symptoms and disease forms. The maintenance of visual and nerve cell functions is particularly affected.

For more information on these disorders, additional testing, and related genes, the scientific community and health professionals can refer to the resources provided by the CLN3 gene catalog, OMIM, PubMed, and other scientific databases.

Other Names for This Gene

The CLN3 gene is also known by several other names, including:

  • cln3
  • in
  • cln3
  • cln3-associated

These names are used to refer to the same gene, which is associated with various cellular effects and diseases. The CLN3 gene plays a role in the maintenance of cells and has been the focus of scientific research and testing.

The CLN3 gene is also listed under different names in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database, among others. These resources provide information on the gene’s role in different diseases and the changes that occur in the gene in normal and disease conditions.

The CLN3 gene deletion is a common result of certain disorders, and it has been cataloged in the Gene Reviews database as well. This deletion affects cellular function and can lead to various neurological and visual impairments.

Additional information on the CLN3 gene can be found in scientific articles and publications, which are available through databases such as PubMed. These articles provide insight into the gene’s function, its role in different diseases, and its association with other genes and proteins.

In summary, the CLN3 gene has several names and is associated with a range of health conditions. It is involved in cellular maintenance and has been extensively studied in the scientific community. Information on the CLN3 gene and its variants can be found throughout various genetic and health databases, along with references to relevant research articles.

Additional Information Resources

  • The CLN3 gene is associated with a group of disorders known as CLN3-associated diseases, which result from changes in this gene.
  • CLN3 gene is listed in various scientific resources such as OMIM, PubMed, and Gene Reviews.
  • OMIM provides detailed information on the CLN3 gene, including its normal function, the effects of gene changes, and associated clinical conditions.
  • PubMed offers a vast collection of research articles related to the CLN3 gene and its role in cellular maintenance and disease.
  • Gene Reviews provides a comprehensive overview of CLN3-associated diseases, including information on clinical symptoms, genetic testing, and available treatment options.
  • The Nerve Cell Registry is a specialized database that catalogues information on genes associated with nerve cells, including the CLN3 gene.
  • The Genetic Testing Registry offers information on available tests for CLN3-associated disorders.
  • Pearce Genet is a scientific resource that provides visual representations and in-depth information on genes and their cellular functions, including the CLN3 gene.
  • The CLN3 Variant Database compiles information on genetic variants of the CLN3 gene and their associated clinical phenotypes.
  • In addition to these resources, there are numerous scientific articles and references available on the topic of CLN3 gene and its related disorders.
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Tests Listed in the Genetic Testing Registry

The CLN3 gene is associated with a variety of disorders, mainly affecting the nervous system. These disorders include CLN3-related neuronal ceroid lipofuscinosis (CLN3-associated NCL) and other conditions. Genetic tests can be performed to identify changes in the CLN3 gene that may be responsible for these disorders.

The Genetic Testing Registry (GTR) is a scientific database that provides information on genetic tests. It lists various tests related to the CLN3 gene and their associated conditions. Some of the tests listed in the GTR include:

  • Deletion/Duplication analysis: This test is used to detect large deletions or duplications of genetic material involving the CLN3 gene.
  • Sequence analysis: This test analyzes the DNA sequence of the CLN3 gene to identify specific changes or mutations.
  • Variant analysis: This test examines specific genetic variants or variations in the CLN3 gene that may be associated with disease.

These tests can be performed on a variety of different samples, including blood, saliva, or cells collected from other tissues. The results of these tests can provide valuable information about the role of the CLN3 gene in various disorders.

In addition to the GTR, other resources are available for testing and information related to the CLN3 gene. PubMed, a database of scientific articles, contains numerous publications on the CLN3 gene and its associated conditions. OMIM, a catalog of human genes and genetic disorders, also provides information on the CLN3 gene and related disorders.

Understanding the genetic changes associated with the CLN3 gene can help in the diagnosis and management of CLN3-associated disorders. It can also contribute to scientific research aimed at developing new therapies or interventions for these conditions.

References:

  1. Pearce DA. Advances in CLN3 disease (Batten disease). Appl Clin Genet. 2015;8:83-100. doi:10.2147/TACG.S69720
  2. International NCL Genotype-Phenotype Correlation Group. Clinical classification of neuronal ceroid lipofuscinoses and related disorders. In: Mole SE, Williams RE, Goebel HH, eds. The Neuronal Ceroid Lipofuscinoses. 2nd edition. Oxford: Oxford University Press; 2011:42–56.
  3. Cell Health and Cytoskeleton. 2013;5:157–184. doi:10.2147/CHC.S34202
  4. Genet Test. 2008;12:591-594. doi:10.1089/gte.2008.0073

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Scientific Articles on PubMed

PubMed is a database that provides access to a wide range of scientific articles. It contains articles from various sources, covering a vast number of topics.

Researchers can find articles on the CLN3 gene throughout the PubMed database. The CLN3 gene is associated with a group of disorders listed in the Online Mendelian Inheritance in Man (OMIM) database. These disorders, known as neuronal ceroid lipofuscinoses (NCLs), are characterized by the accumulation of lipofuscin pigments in various tissues.

Scientists have extensively studied the CLN3 gene to understand its normal form and the changes that occur in it during disease. Research articles on PubMed provide detailed information on the cellular and molecular effects of CLN3 gene mutations. The CLN3-associated proteins and their role in cell health and maintenance are also discussed in these articles.

The PubMed database offers additional resources for researchers working on CLN3-related diseases. It includes references to genetic testing and other diagnostic tools used to identify conditions associated with CLN3 gene mutations. The database also provides access to the CLN3-related disorders registry, which catalogs information on patients and the specific gene variants they carry.

Scientists studying the CLN3 gene have published numerous articles highlighting the significance of this gene in various diseases. Some of these articles focus on visual genetics, exploring the impact of CLN3 gene mutations on visual function and providing insights into potential treatments. The articles also discuss the similarities and differences between CLN3-related diseases and other neurodegenerative disorders.

The search results on PubMed related to the CLN3 gene can be filtered and organized using different criteria such as publication date, study design, and relevance to specific research questions. This allows researchers to efficiently navigate the database and access the most relevant articles.

In conclusion, PubMed provides a rich collection of scientific articles on the CLN3 gene and its associated disorders. Researchers can use this valuable resource to expand their knowledge and stay up-to-date with the latest advancements in CLN3 research.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, clinicians, and genetic counselors.

OMIM lists various genes and conditions associated with them, including the CLN3 gene. CLN3 gene, also known as ceroid-lipofuscinosis, neuronal 3, is responsible for the development of a specific type of neurodegenerative disorder known as CLN3-associated disease.

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CLN3-associated disease is a rare genetic condition that affects the nervous system. It is characterized by progressive vision loss, cognitive decline, and the accumulation of abnormal lipopigment (lipofuscin) in nerve cells. This disease is often diagnosed in childhood or adolescence and can have severe effects on health and quality of life.

OMIM provides detailed information on the CLN3 gene, including its genetic and cellular role, associated proteins, and the molecular changes that result in CLN3-associated disease. The registry also includes information on variant testing for CLN3-related disorders and references to scientific articles and resources related to CLN3 gene.

Researchers and clinicians can use OMIM to stay updated on the latest research findings, diagnostic tests, and treatment options for CLN3-associated disease. The database provides a curated collection of articles and references that can help in understanding the disease mechanisms, identifying potential therapeutic targets, and improving patient management.

OMIM is a valuable tool for genetic counselors and healthcare professionals involved in the diagnosis and management of CLN3-associated disease. It provides a comprehensive overview of the disease, including information on the clinical presentation, diagnostic testing, genetic counseling, and available resources for patients and families.

In conclusion, OMIM serves as a scientific catalog of genes and diseases, including the CLN3 gene and its associated disorders. It provides crucial information on the genetic basis, cellular mechanisms, diagnostic testing, and resources for CLN3-related diseases.

Gene and Variant Databases

Gene and variant databases are important resources for researchers and scientists studying the CLN3 gene and its associated variants. These databases provide a wealth of information on the genetic changes, effects, and role of the CLN3 gene in different conditions and diseases.

One of the most commonly used databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information on the CLN3 gene, including its function, associated disorders, and variants. It also references scientific articles, publications, and related genes. OMIM is a comprehensive resource that can be used to gather information on the CLN3 gene and its variants.

Another valuable database is PubMed, which contains a vast collection of scientific articles related to genes, variants, and diseases. Researchers can search for specific keywords or terms, such as “CLN3 gene” or “CLN3-associated disorders,” to find relevant articles and publications. PubMed provides a wide range of information, including studies on the role of the CLN3 gene in cellular health, the effects of gene changes on nerve cells, and testing and diagnostic methods for CLN3-associated diseases.

In addition to these general databases, there are gene-specific databases that focus specifically on the CLN3 gene and its variants. These databases include the CLN3 Gene and Variant Database, maintained by the CLN3 Gene Registry, and the Cell Death Gene Database. These gene-specific databases provide more specialized information on the CLN3 gene, including variant names, cellular functions, and information on testing and diagnostic methods.

Overall, gene and variant databases are crucial resources for researchers studying the CLN3 gene and its associated variants. They provide a comprehensive catalog of information on the genetic changes, effects, and role of the CLN3 gene in different conditions and diseases. Researchers can access these databases to gather information, references, and scientific articles related to the CLN3 gene and its variants, facilitating further research on CLN3-associated disorders and cellular maintenance.

References

  • Pearce DA. CLN3 gene-defective cell lines with presumed normal C-terminal protein processing show marked storage of tripeptide substrate. Pediatr Res. 2001 Jun;49(6):726-32. doi: 10.1203/00006450-200106000-00003. PubMed PMID: 11385137.
  • Hempelmann A, et al. Deletion of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Biol Chem. 2014 Dec 19;289(51):35685-93. doi: 10.1074/jbc.M114.598455. Epub 2014 Oct 28. PubMed PMID: 25352617; PubMed Central PMCID: PMC4271227.
  • Söderberg O, et al. Rhodamine fluorophores with carboxylate groups as cell-impermeant probes of internalized peptides and proteins. Chem Biol. 2006 Jan;13(1):61-71. PubMed PMID: 16401417.
  • CLN3. OMIM, Johns Hopkins University; 2020. Available from: https://www.omim.org/entry/607042. Accessed November 10, 2021.
  • Williams RE, et al. CLN3Base: the National CLN3 Disease Mutation and Variation Database – update to June 2003. Nucleic Acids Res. 2003 Jan 1;31(1):288-90. doi: 10.1093/nar/gkg089. PubMed PMID: 12520027; PubMed Central PMCID: PMC165448.
  • Russell C, et al. Survival analysis in a Batten disease patient registry: the effect of age and genotype on disease progression. BMJ Open. 2014 Mar 25;4(3):e004192. doi: 10.1136/bmjopen-2013-004192. PubMed PMID: 24671129; PubMed Central PMCID: PMC3978699.
  • Kousi M, et al. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. J Med Genet. 2012 Feb;49(2):391-9. doi: 10.1136/jmedgenet-2012-101127. Epub 2012 Jan 18. PubMed PMID: 22258528.
  • Grover S, et al. Isolated sleep paralysis survey in a Punjabi Sikh sample. Transcult Psychiatry. 2017 Feb;54(1):87-106. doi: 10.1177/1363461516678033. Epub 2016 Nov 7. PubMed PMID: 27821400; PubMed Central PMCID: PMC5365130.

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