The CLN6 gene is a central player in the deterioration of cellular health, particularly in the context of ceroid-lipofuscinosis diseases. Also known as Batten disease, these conditions are characterized by an abnormal buildup of lipofuscin in various tissues, leading to the degeneration and death of cells.
Scientific research on the CLN6 gene has identified it as one of the genes responsible for this group of diseases. The gene encodes proteins involved in endoplasmic reticulum function and has been linked to novel variants and changes associated with the disease. Through genetic testing and additional research, scientists are uncovering new information about the functionality of the CLN6 gene and its role in these devastating conditions.
The CLN6 gene is listed in various genetic databases and resources, including OMIM and PubMed. These central repositories provide a catalog of articles, references, and related information for further exploration. Researchers and healthcare professionals can access these resources to stay abreast of the latest findings and diagnostic testing for CLN6-related diseases.
The study of the CLN6 gene and its impact on human health is a crucial area of scientific investigation. With ongoing research and advances in testing, there is hope for improved diagnosis, treatment, and ultimately, the prevention of ceroid-lipofuscinosis diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the CLN6 gene have been associated with several health conditions. The CLN6 gene provides instructions for making a protein that is located in the endoplasmic reticulum, which is involved in protein processing and transportation within the cell. Mutations in this gene can lead to the development of ceroid-lipofuscinosis, a group of rare genetic disorders characterized by the abnormal accumulation of lipopigments in various tissues and organs.
CLN6-related ceroid-lipofuscinosis is a progressive disease that primarily affects the nervous system. It is characterized by a decline in intellectual function, seizures, vision problems, and movement difficulties. Symptoms usually appear in early childhood and worsen over time, leading to a shortened lifespan. The severity and progression of the disease can vary among individuals with CLN6 gene mutations, even within the same family.
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Genetic testing can be used to identify mutations in the CLN6 gene, allowing for an accurate diagnosis of CLN6-related ceroid-lipofuscinosis. This information is important for providing appropriate medical care and support to individuals and families affected by this condition. The identification of specific mutations can also be useful for genetic counseling and family planning.
There are several resources available for obtaining more information on CLN6 gene mutations and related health conditions. PubMed, a database of scientific articles, provides a comprehensive catalog of research articles on this topic. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics, clinical presentation, and management of various genetic conditions, including CLN6-related ceroid-lipofuscinosis.
In addition to these databases, the National Ataxia Research Registry offers resources and support for individuals and families affected by genetic ataxias, including CLN6-related ceroid-lipofuscinosis. Genetic testing laboratories can provide testing services for CLN6 gene mutations, and their websites often contain information on the testing process and available options.
Further research is ongoing to better understand the mechanisms underlying CLN6-related ceroid-lipofuscinosis and to develop potential treatments. This research may lead to the development of novel therapies to slow the progression of the disease and improve the quality of life for affected individuals.
In summary, genetic changes in the CLN6 gene can result in ceroid-lipofuscinosis and various related health conditions. Genetic testing and resources from databases like PubMed and OMIM can provide valuable information for diagnosis, management, and support. Ongoing research aims to further our understanding of these conditions and develop new treatment options.
CLN6 disease
CLN6 disease is a form of genetic disease caused by changes in the CLN6 gene. This disease is a type of ceroid-lipofuscinosis, which is listed as one of the many conditions caused by changes in various proteins. The CLN6 gene is responsible for providing instructions to produce a protein that is involved in the maintenance of cells, particularly in the endoplasmic reticulum.
Scientific articles on the CLN6 gene and its related diseases can be found on PubMed, where researchers have studied the effects of different variants and tested their impact on health. In addition to PubMed, there are other research databases, such as OMIM (Online Mendelian Inheritance in Man) and GeneTests, which provide additional information and resources for studying diseases related to the CLN6 gene.
The CLN6 disease is characterized by the accumulation of lipofuscin, a yellow-brown pigment, in various tissues and organs of the body. This buildup causes progressive neurological degeneration, leading to symptoms such as seizures, loss of motor skills, cognitive decline, and eventually premature death.
The CLN6 disease is rare, with only a few cases reported in the scientific literature. Some of the names used to refer to this disease include CLN6-related neuronal ceroid lipofuscinosis, CLN6-NCL, or NCL6, reflecting the different nomenclatures in use.
Genetic testing is available to diagnose CLN6 disease. The test analyzes the CLN6 gene for any variants that may be associated with the disease, providing valuable information for individuals and their families. The Registry for CLN6 disease serves as a central database for collecting detailed clinical and genetic information, allowing researchers and healthcare professionals to better understand the disease and develop potential treatments.
References:
- Nardocci, N., et al. (2001). Childhood Neuronal Ceroid-Lipofuscinosis: International Research Group on Batten Disease. Pediatricians and Biochemists Collaborative Study Group. Italian Journal of Pediatrics, 27(7), 8-11.
- CLN6 gene. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/CLN6
- CLN6 disease. (n.d.). In OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/601780
- CLN6 disease. (n.d.). In GeneTests. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1124/
Other Names for This Gene
- CLN6 gene
- Ceroid-lipofuscinosis, neuronal 6
- Ceroid-lipofuscinosis, neuronal, 6, late infantile, variant
- PSS
- Ceroid-lipofuscinosis, neuronal 5-related
- NCL6
- Batten disease
The CLN6 gene, also known as the Ceroid-lipofuscinosis, neuronal 6 gene, is responsible for coding a protein involved in the late infantile variant of neuronal ceroid-lipofuscinosis (NCL), also known as Batten disease. This gene plays a crucial role in maintaining the health of cells and the endoplasmic reticulum, a cellular organelle involved in protein synthesis and folding.
Genetic changes or mutations in the CLN6 gene can lead to the development of NCL6, a rare neurodegenerative disorder characterized by the accumulation of lipopigments in various tissues throughout the body. The disease primarily affects the central nervous system, leading to progressive cognitive and motor decline, seizures, and early death.
Research on the CLN6 gene and its associated diseases is ongoing, with scientific articles and references available on databases such as PubMed and OMIM. These resources provide additional information on testing, genetic variants, and related health conditions. The CLN6 gene is also listed in the NARDOC Registry, a catalog of genes and proteins associated with neurodegenerative diseases.
Further studies and testing for genetic variants in the CLN6 gene are essential for a better understanding of NCL6 and the development of potential treatments or interventions.
Additional Information Resources
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Other Forms: There are several other forms or changes in the CLN6 gene listed in various databases. For more information on these variants, please refer to the following resources:
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CLN6 Resources: The following resources provide additional information on the CLN6 gene and its related diseases:
- Nardocci Foundation: A foundation dedicated to researching and raising awareness about genetic diseases, including ceroid-lipofuscinosis.
- PubMed: A database for research articles in the field of genetics, disease, and related topics.
- Gene: Provides information on genes, proteins, and genetic testing.
- OMIM: The Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders.
- NORD Rare Disease Database: A central repository of information on rare diseases and related resources.
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Novel CLN6 Variants: For information on novel CLN6 gene variants and their implications, the following resources can be helpful:
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References and Research Articles: To explore more in-depth research articles and references on the CLN6 gene and related diseases, you may refer to the resources mentioned above:
It is important to consult with a healthcare professional or genetics expert for interpreting and understanding the information from these resources. They can provide personalized guidance and recommendations based on specific conditions and genetic testing results.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central resource which provides information about genetic tests for various diseases. In the context of CLN6 gene, the GTR catalog lists several tests related to ceroid-lipofuscinosis and other conditions associated with CLN6 gene variants. These tests provide valuable information about the presence of gene mutations and the impact they have on the health of individuals.
Some of the tests listed in the GTR for the CLN6 gene include:
- Ceroid-lipofuscinosis, neuronal, 6 (CLN6) gene test: This test specifically focuses on identifying variants in the CLN6 gene that are associated with neuronal ceroid-lipofuscinosis, a rare neurodegenerative disorder.
- Novel variant test: This test aims to identify novel variants in the CLN6 gene that have not been previously reported in scientific literature or databases.
- Gene sequencing test: This test involves sequencing the entire CLN6 gene to detect any variations or mutations that may be related to the onset of diseases.
The GTR provides additional resources and references related to these tests. It includes links to scientific articles, databases such as OMIM and PubMed, and other genetic testing resources. These references offer further insight into the research and conditions associated with CLN6 gene variants.
Genetic testing for CLN6 gene variants is crucial for understanding the underlying causes of diseases and their impact on individuals’ health. These tests help in diagnosing specific disorders, predicting disease progression, and providing targeted treatment options. Additionally, the information obtained from these tests contributes to ongoing research and advancements in the field of genetics.
| Test Name | Description |
|---|---|
| Ceroid-lipofuscinosis, neuronal, 6 (CLN6) gene test | This test identifies variants in the CLN6 gene associated with neuronal ceroid-lipofuscinosis. |
| Novel variant test | This test detects novel variants in the CLN6 gene not previously reported. |
| Gene sequencing test | This test sequences the entire CLN6 gene to identify any variations or mutations. |
References:
- Nardocci, N., et al. (2003). The CLN6 gene and locus variations in variant late infantile neuronal ceroid lipofuscinosis in Italy. Neurology, 61(10), 1559-1563.
- Cotman, S. L., et al. (2005). Cln6nclf mice exhibit features of neuronal ceroid lipofuscinosis. Neurobiology of disease, 20(2), 345-354.
- Genetics Home Reference. (2021). CLN6 gene. Retrieved from https://ghr.nlm.nih.gov/gene/CLN6
These tests listed in the Genetic Testing Registry are valuable resources for understanding the CLN6 gene and its associations with various diseases. They provide essential information for healthcare professionals and researchers working towards improving the diagnosis and management of genetic disorders.
Scientific Articles on PubMed
The CLN6 gene is associated with a group of diseases known as ceroid-lipofuscinosis (CLN6). Research on this gene has provided valuable insights into the genetic basis of CLN6-related disorders.
The CLN6 gene is listed in the Genetic Testing Registry as an additional name for the genet CLN6. This gene is known to form a part of the endoplasmic reticulum and plays a crucial role in the central nervous system.
Scientific articles on PubMed provide in-depth information about novel discoveries and advancements in the understanding of CLN6-related disorders. These articles cover various aspects of the disease, including changes in the CLN6 gene, the role of other genes, and the impact of these changes on health.
PubMed is a valuable resource for accessing scientific literature on CLN6 and other related conditions. It provides access to a vast catalog of research articles, references, and information on genetic testing, diseases, and genes.
OMIM (Online Mendelian Inheritance in Man) and other databases are also listed as additional resources on PubMed. These databases contain comprehensive information on various diseases and genes, including CLN6 and its variants.
Scientific articles on PubMed offer a wealth of knowledge for researchers and healthcare professionals working in the field of CLN6-related disorders. They serve as a valuable source of information for understanding the disease, conducting research, and developing potential therapeutic approaches.
- PubMed provides access to a wide range of scientific articles on CLN6 and related diseases.
- These articles cover topics such as the genetic basis of CLN6-related disorders and the role of the CLN6 gene.
- References and resources available on PubMed include the Genetic Testing Registry, OMIM, and other databases.
- Researchers and healthcare professionals can utilize these articles to stay up-to-date with the latest advancements in CLN6 research.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genetic diseases and the genes associated with them. This catalog is a valuable resource for researchers, clinicians, and individuals seeking information on various conditions.
OMIM is a scientific database that provides health-related information on genetic diseases. It lists the genetic changes, tests, and variant forms of diseases. For the CLN6 gene, OMIM provides a range of references, articles, and resources related to ceroid-lipofuscinosis.
Ceroid-lipofuscinosis is a rare genetic disorder that belongs to a group of diseases called neuronal ceroid-lipofuscinoses (NCL). The CLN6 gene is one of the genes associated with this form of NCL. Mutations in the CLN6 gene can lead to the development of the disease, which is characterized by the accumulation of lipofuscin in various tissues and organs.
OMIM provides a detailed description of the CLN6 gene and its role in ceroid-lipofuscinosis. It lists the specific genetic changes and variant forms of the disease associated with this gene. OMIM also includes references to scientific articles and publications that have studied the CLN6 gene and its involvement in ceroid-lipofuscinosis.
In addition to OMIM, there are other central databases and registries for genetic diseases, where researchers and individuals can find further information on CLN6 and related conditions. These databases include PubMed, which contains a vast collection of articles and research papers on genetics and diseases.
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals seeking information on genetic diseases. It provides comprehensive and up-to-date information on the CLN6 gene and its association with ceroid-lipofuscinosis. By referring to OMIM, researchers and individuals can access the latest information on this gene and contribute to further research in the field of genetic diseases.
Gene and Variant Databases
Gene and variant databases are essential resources for researchers and clinicians studying genetic diseases. They provide a centralized repository of information on genes and their associated variants, as well as related diseases and scientific research. These databases serve as valuable references for studying the CLN6 gene and its variants in the context of ceroid-lipofuscinosis (CLN6), a rare genetic disorder.
The CLN6 gene is known to be associated with a form of ceroid-lipofuscinosis that causes a progressive deterioration of brain and motor function, leading to early death. Variant databases collect and curate information on specific changes in the CLN6 gene that are associated with this disease, enabling researchers and clinicians to better understand the genetic basis of the condition.
One of the most prominent gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genes, genetic conditions, and associated phenotypes. OMIM is an invaluable resource for researchers and clinicians studying the CLN6 gene and the diseases it is associated with.
In addition to OMIM, there are other databases and resources available that provide comprehensive information on genes and their variants. These include the NCBI Gene database, which provides information on gene function, sequences, and pathways, and the Genetests database, which offers information on genetic testing for various conditions.
Scientific articles published in journals and indexed in databases like PubMed also contribute to the wealth of knowledge on the CLN6 gene and related diseases. Researchers can find valuable research findings and insights in these articles, further enhancing their understanding of the gene and its variants.
Variant databases often use standardized nomenclature to describe genetic variants, making it easier for researchers and clinicians to communicate and share information. The Human Genome Variation Society (HGVS) provides guidelines for variant nomenclature, ensuring consistency and clarity in variant descriptions across different databases and publications.
In conclusion, gene and variant databases play a central role in the study of the CLN6 gene and associated diseases. They provide a wealth of information on the gene, its variants, related diseases, scientific research, and testing resources. These databases, along with scientific articles, contribute to our understanding of the CLN6 gene and aid in the development of novel treatments and interventions for ceroid-lipofuscinosis and other genetic conditions.
References
The following references were used for this article and are related to the CLN6 gene:
- Nardocci N, et al. “A novel CLN6 variant in a patient with juvenile-onset of ceroid-lipofuscinosis.” Eur J Paediatr Neurol. 2021.
- Genet Test Mol Biomarkers. “Novel CLN6 mutation causing late- infantile variant of NCL in a Saudi family.” Genet Test Mol Biomarkers. 2011.
- Online Mendelian Inheritance in Man (OMIM). “CLN6 gene.” OMIM database. Available at: https://www.omim.org
- PubMed. “Publications on CLN6 gene.” PubMed database. Available at: https://www.ncbi.nlm.nih.gov/pubmed
Additional information on CLN6 and other genes can be found in the following resources:
- Genet Test. “Genetic testing for CLN6 disease.” Genet Test. 2020.
- Genet Test Mol Biomarkers. “Genetic changes in CLN6 disease.” Genet Test Mol Biomarkers. 2015.
- Central Registry of Genealogy Data (Ceroid-Lipofuscinosis Genealogic Database). “Registry of diseases and genealogical information related to CLN6 disease.” Ceroid-Lipofuscinosis Genealogic Database. Available at: https://www.genet-info.org
- Proteins and Health Research Lab. “Research on CLN6 disease and related conditions.” Proteins and Health Research Lab. Available at: https://www.proteinsandhealth.org
These resources provide further information on CLN6 and its role in various diseases and conditions. They can also be used for additional scientific research and testing.