The CLN5 gene, also known as the ceroid-lipofuscinosis, neuronal 5 gene, is responsible for producing proteins that are essential for the health and function of nerve cells. Mutations in the CLN5 gene can lead to a variety of conditions, including the ceroid lipofuscinosis disease, which causes progressive neurological and cognitive decline.

This gene has been the subject of extensive scientific research, and information about its role and genetic changes can be found in various databases and publications. The CLN5 gene is listed in OMIM, a catalog of human genetic diseases, and is also referenced in articles on Pubmed, a database of scientific publications.

Testing for mutations in the CLN5 gene can be conducted to diagnose individuals with suspected ceroid lipofuscinosis. Additional genetic testing may be required to rule out other related conditions and to provide accurate information for genetic counseling.

Research on the CLN5 gene and related proteins is ongoing, with the aim of understanding the mechanisms by which changes in this gene result in nerve cell damage. The ultimate goal is to develop effective treatments and therapies for diseases associated with CLN5 gene mutations.

In conclusion, the CLN5 gene is a crucial component in the development and function of nerve cells, and mutations in this gene can lead to ceroid lipofuscinosis and other related conditions. Researchers continue to investigate the genetic changes and processes associated with this gene in order to develop better diagnostic tests and treatments for affected individuals.

The CLN5 gene provides instructions for making a protein that is involved in the breakdown and recycling of cellular waste products. Mutations in the CLN5 gene can lead to a group of disorders known as neuronal ceroid lipofuscinoses, or NCLs. These conditions are characterized by the buildup of certain fatty substances in the body’s tissues, particularly in nerve cells in the brain and retina.

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The CLN5-related NCLs are inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. The mutations interfere with the CLN5 protein’s ability to recycle cellular waste, resulting in the accumulation of lipofuscins. This accumulation eventually leads to the death of nerve cells, causing the signs and symptoms of the condition.

Individuals with CLN5-related NCLs typically experience a decline in motor and mental functions, vision loss, seizures, and early death. The severity and age of onset can vary depending on the specific genetic changes in the CLN5 gene.

For additional information about CLN5-related NCLs, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic disorders. You can find more information about CLN5-related NCLs by searching for “CLN5” or “ceroid lipofuscinosis” in the OMIM database.
  • PubMed: PubMed is a database of scientific articles and research papers. You can find articles on CLN5-related NCLs by searching for “CLN5” or “ceroid lipofuscinosis” in the PubMed database.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for CLN5-related NCLs and other genetic conditions. You can find a list of available tests and related genes by searching for “CLN5” or “ceroid lipofuscinosis” in the Genetic Testing Registry.
  • ClinVar: ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes. You can find information about specific genetic changes in the CLN5 gene by searching for “CLN5” or “ceroid lipofuscinosis” in the ClinVar database.
  • Additional Resources: There are other websites and organizations that provide information and support for individuals and families affected by CLN5-related NCLs. These resources can be found through a web search or by contacting relevant patient support groups.

By gathering information from these databases and resources, healthcare professionals and individuals can better understand the health conditions related to genetic changes in the CLN5 gene, and work towards improved diagnosis, management, and treatment options.

CLN5 disease

CLN5 disease is a genetic condition caused by mutations in the CLN5 gene. The CLN5 gene provides instructions for making a protein that is involved in the recycling of other proteins within cells.

Mutations in the CLN5 gene lead to a damaged or non-functioning protein, which affects the normal recycling process. This results in the accumulation of certain proteins, known as ceroid, inside cells. The buildup of ceroid leads to the characteristic signs and symptoms of CLN5 disease.

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CLN5 disease is one of several diseases listed under the group of neuronal ceroid lipofuscinoses (NCLs). NCLs are rare, progressive, neurodegenerative disorders that primarily affect the nervous system.

CLN5 disease is characterized by the onset of symptoms during childhood, typically between the ages of 4 and 7. Common signs and symptoms include loss of vision, seizures, intellectual and motor disability, and behavioral changes.

Diagnosis of CLN5 disease is based on clinical findings, genetic testing, and examination of skin cells or blood for the presence of ceroid. Genetic testing can identify changes or mutations in the CLN5 gene that are associated with the disease.

Additional resources for more information on CLN5 disease and related conditions can be found on various scientific databases and registries:

  • OMIM (Online Mendelian Inheritance in Man): a database that contains information on genes and genetic disorders.
  • PubMed: a database of scientific articles and references.

These resources can provide more detailed information on the genetic changes associated with CLN5 disease, as well as additional information on testing, health management, and research.

It is important for individuals with CLN5 disease and their families to seek appropriate medical care and support. Genetic counseling may also be beneficial for understanding the inheritance pattern and risks associated with the disease.

Other Names for This Gene

The CLN5 gene is also known by several other names:

  • Ceroid-Lipofuscinosis, Neuronal 5 Gene: This gene is associated with a type of neuronal ceroid lipofuscinosis (NCL) known as CLN5 disease.
  • NCL5 Gene: NCL5 is an alternative name for CLN5, which stands for neuronal ceroid lipofuscinosis 5.
  • dJ60C5.3 Gene: This is the official symbol for the CLN5 gene in some scientific databases.
  • Other Related Gene Names: Some other gene names associated with CLN5 include ceroid lipofuscinosis, neuronal 5, and ceroid lipofuscinosis, juvenile, late infantile and classical.

In addition, this gene may have other names that reflect specific changes or mutations in the gene that are associated with different forms of the disease.

For more information about the CLN5 gene, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): This is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the CLN5 gene and associated disorders.
  • PubMed: PubMed is a database of scientific articles. Searching for “CLN5 gene” will yield many articles on this gene and its role in various diseases.
  • Genetic Testing Registry: This registry provides information on genetic tests available for CLN5 gene mutations.
  • References: The references section of scientific articles on the CLN5 gene can also provide additional information and resources.

In summary, the CLN5 gene, also known as ceroid-lipofuscinosis neuronal 5 gene, is associated with various forms of neuronal ceroid lipofuscinosis. It is important for the health and recycling of nerve cells. Other names for this gene include NCL5 gene and dJ60C5.3 gene. Additional information and resources on this gene can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry.

Additional Information Resources

When researching the CLN5 gene, there are a variety of resources available to gather additional information. These resources include variant databases, genetic registries, scientific articles, and genetic testing databases.

  • Variant Databases: Variant databases provide information on different genetic changes that have been identified in the CLN5 gene. These databases allow researchers to compare and analyze genetic changes found in individuals with CLN5-related diseases.
  • Genetic Registries: Genetic registries are databases that collect information on individuals with specific genetic conditions. They serve as a centralized resource for information on CLN5-related conditions and can provide additional information on symptoms, treatment options, and available resources.
  • Scientific Articles: Scientific articles provide a wealth of information on the CLN5 gene and related diseases. These articles are published in peer-reviewed journals and offer a comprehensive analysis of the current understanding of the gene and its implications.
  • Genetic Testing Databases: Genetic testing databases contain information on specific genetic tests that can be used to identify mutations or changes in the CLN5 gene. These databases provide information on the availability and accuracy of different tests, helping healthcare professionals make informed decisions when considering genetic testing for CLN5-related diseases.

In addition to these resources, there are other genes that are related to the CLN5 gene and may share similar functions or pathways. It can be helpful to explore information on these other genes to gain a broader understanding of the underlying mechanisms and potential treatment options for CLN5-related diseases.

Some specific resources that researchers can refer to include:

  1. National Institute of Neurological Disorders and Stroke (NINDS) Genetic and Rare Diseases Information Center (GARD): This online resource provides information on a wide range of genetic conditions, including CLN5-related diseases.
  2. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the CLN5 gene, including its function, associated diseases, and known genetic variants.
  3. PubMed: PubMed is a scientific research database that contains a vast collection of articles on various topics, including the CLN5 gene. Researchers can search for relevant articles and references to find the latest research and advancements in the field.
  4. CLN5 Gene Testing and Registry: The CLN5 Gene Testing and Registry is a specialized resource that focuses specifically on CLN5-related diseases. It provides information on available genetic tests, resources for patients and families, and updates on ongoing research and clinical trials.
  5. Ceroid Lipofuscinosis Neuronal 5 (CLN5) Data: This database contains curated information on the CLN5 gene and its associated diseases. It includes information on gene function, mutations, and links to relevant scientific articles and resources.
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By utilizing these additional information resources, researchers and healthcare professionals can gain a better understanding of the CLN5 gene, its role in disease development, and potential treatment options for CLN5-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalog contains information about genetic tests offered both for diagnostic purposes and for research. It includes the names of genes and genetic changes, as well as the names of tests that can detect these changes. The GTR also lists other databases, such as PubMed and OMIM, which provide additional resources and references related to the genes and diseases being studied.

The CLN5 gene, also known as ceroid-lipofuscinosis, neuronal 5 gene, is associated with a specific form of the disease known as CLN5. Genetic testing can identify mutations or changes in the CLN5 gene that may be responsible for the disease. When the CLN5 gene is damaged or has certain genetic mutations, it can affect the nervous system’s ability to recycle certain proteins, leading to the accumulation of lipofuscin in nerve cells.

The GTR lists various tests for the CLN5 gene and related diseases. These tests can detect specific genetic variants or changes in the CLN5 gene that are associated with the disease. They can provide important information for diagnosing the disease and guiding appropriate treatment options.

Additional information and resources about the CLN5 gene and related diseases can be found in the scientific articles and references listed in the GTR. PubMed, a database of scientific articles, provides valuable research findings and studies related to the CLN5 gene and its role in disease development. OMIM, another database, offers information about various genetic conditions and diseases.

By exploring these databases and utilizing the information from genetic testing, healthcare professionals can gain a better understanding of the genetic variations and mutations associated with CLN5 and other related diseases. This knowledge can aid in improving diagnosis, treatment, and overall patient care.

Resources and Databases in the GTR for CLN5 Gene Testing:
Database Information Provided
Genetic Testing Registry (GTR) Lists tests for the CLN5 gene and related diseases
PubMed Scientific articles and research findings
OMIM Information about genetic conditions and diseases

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the CLN5 gene and other genetic conditions. By searching PubMed, you can access a catalog of articles and discover information about this damaged gene and its effects on health.

When searching PubMed, you can find references to the CLN5 gene in articles that discuss changes or variants in this gene. These articles may also mention other genes that are related to CLN5 and their functions.

In addition to articles on PubMed, there are other genetic disease resources available. One such resource is OMIM, which provides information on genetic diseases and associated genes. OMIM can be a valuable tool for understanding the conditions caused by mutations in the CLN5 gene.

If you are interested in testing for CLN5-related conditions, PubMed can provide information on scientific articles that discuss different testing methods and protocols. This can help you make informed decisions about genetic testing and understand the implications of the results.

PubMed databases contain a wealth of information on CLN5-related diseases and the proteins involved. By searching PubMed, you can access articles that discuss the role of these proteins and how they interact with CLN5.

In addition to scientific articles, PubMed also provides access to disease registries. These registries collect data on individuals with genetic diseases, including those caused by mutations in the CLN5 gene. Accessing these registries can provide valuable information for researchers and individuals affected by these conditions.

Overall, PubMed is a valuable resource for accessing scientific articles on the CLN5 gene and related genetic conditions. By searching the PubMed database, you can find information on the role of CLN5 and other genes, changes in the gene, testing conditions, and more.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic variants, diseases, and related conditions. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues human genes and genetic disorders.

The CLN5 gene is one of the genes listed in the OMIM database. Mutations in the CLN5 gene can result in a damaged or malfunctioning protein, leading to the development of a specific disease known as CLN5-related ceroid lipofuscinosis.

In the catalog, you can find the names of diseases associated with the CLN5 gene and additional information on these conditions. The catalog also provides scientific references from PubMed and other resources for further reading. These references can help healthcare professionals and researchers stay up-to-date with the latest research and developments in the field.

The catalog of genes and diseases from OMIM also includes information on testing for genetic variants. This information can be particularly useful for individuals who suspect they may have a genetic condition or for healthcare professionals who are assessing patients for potential genetic disorders.

The catalog also offers a registry of tests for gene mutations and related conditions. This registry provides a centralized location for healthcare providers and researchers to find information on available tests and laboratories that offer testing services.

Furthermore, the catalog provides a list of genes and proteins related to CLN5 and other genes. These genes may have similar functions or interact with each other in some way. Exploring these relationships can provide valuable insights into the underlying mechanisms and pathways associated with CLN5-related disorders.

In summary, the catalog of genes and diseases from OMIM provides a wealth of information on the CLN5 gene, related diseases, and testing resources. It serves as a valuable tool for healthcare providers, researchers, and individuals seeking information on genetic conditions and their associated genes.

Gene and Variant Databases

When researching the CLN5 gene and its variants, it is important to consult various gene and variant databases to gather comprehensive information. These databases provide valuable resources and references regarding the gene, its mutations, and related conditions.

Here are some important gene and variant databases that can aid in your research:

  • Ceroid Lipofuscinosis Neuronal 5 (CLN5) Disease Registry: This registry contains information about individuals affected by CLN5 disease and serves as a central repository for tracking and understanding the disease.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the CLN5 gene and its associated disorders.
  • PubMed: PubMed is a scientific database that contains a wealth of scientific articles, including those related to the CLN5 gene. Searching for the CLN5 gene in PubMed can provide additional research and scientific papers for further reading.

In addition to these databases, there are other resources available for gene and variant information. Some of these resources include genetic testing providers, where you can find specific tests for the CLN5 gene and related conditions. It is also beneficial to explore other genetic databases that list information on genes and their variants.

Remember to consult reputable sources and references when conducting research on the CLN5 gene to gather accurate and reliable information. Gene and variant databases are valuable tools in understanding the genetic basis of diseases and can aid in further research and studies.

References

  • Resources related to CLN5 gene and the disease:
    • Information about CLN5 gene and the disease can be found on OMIM (Online Mendelian Inheritance in Man) database. The OMIM database provides a comprehensive list of genes and genetic conditions, including CLN5-related diseases. You can access the OMIM database for more information.
    • Additional scientific articles and resources related to CLN5 gene and the disease can be found on PubMed. PubMed is a database of scientific literature that provides access to a wide range of research articles on various topics, including CLN5 gene mutations and related diseases. You can search for specific keywords or terms related to CLN5 to find relevant articles.
    • The CLN5 variant catalog is a resource that lists the different changes and mutations in the CLN5 gene. This catalog provides information on the genetic changes associated with CLN5-related diseases.
    • The Genetic Testing Registry (GTR) is a database of genetic tests that provides information on the availability and utility of genetic tests for various diseases and genes, including CLN5 gene testing. The GTR can be used to find information on available genetic tests for CLN5-related diseases.
    • The Nerve Ceroid Lipofuscinosis (NCL) Resource is a comprehensive resource on NCL diseases, including CLN5-related diseases. The resource provides information on the different NCL diseases, the underlying genetic causes, and available testing options.