The UNC80 gene is a genet coding for a protein known as UNC80. This protein is a subunit of the NALCN-UNC80-TMEM16 channelosome, which plays a critical role in neuronal excitability. Mutations in the UNC80 gene have been found to cause a variety of genetic conditions, includingNeuropathy, Cerebellar Ataxia, and Arthrogryposis (NCAPA) syndrome, as well as other neurological disorders.

Testing for mutations in the UNC80 gene can be done through genetic testing laboratories, which provide a comprehensive catalog of genetic variants. The absence or deficiency of UNC80 protein can result in various health conditions. Information on the UNC80 gene and associated diseases can be found in various resources, including the Online Mendelian Inheritance in Man (OMIM) database and PubMed. Additional references and articles related to the UNC80 gene and its role in health can also be found on PubMed.

Complex testing of multiple genes may be required to diagnose certain conditions related to the UNC80 gene. These tests can be listed in databases along with the results and other changes observed in the gene. It is important to consult with healthcare professionals for more information on specific conditions and the availability of genetic tests.

Health Conditions Related to Genetic Changes

Genetic changes in the UNC80 gene have been associated with various health conditions. The UNC80 gene provides instructions for producing a protein that is involved in the function of ion channels in the brain and other tissues. Ion channels are critical for the proper functioning of cells and play a role in several physiological processes.

One of the health conditions related to genetic changes in the UNC80 gene is a deficiency of NALCN and UNC80 genes, resulting in a complex syndrome characterized by various symptoms. This syndrome is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic diseases. Additional names for this syndrome include NALCN deficiency syndrome and NALCN-related disorders.

To diagnose this syndrome, genetic testing can be performed to identify specific changes in the UNC80 or NALCN genes. These tests are available from various scientific laboratories and genetic testing providers. The results of these tests can help clinicians confirm the diagnosis and provide appropriate management and treatment options.

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In addition to the syndrome related to UNC80 gene changes, other health conditions have been associated with mutations in the genes that make up the channelosome complex. The channelosome is a protein complex involved in the formation and function of ion channels in cells.

Some of the other conditions associated with these genetic changes include developmental delay, intellectual disability, seizures, and movement disorders. The exact symptoms and severity can vary widely between individuals, even when they have the same genetic mutation.

Healthcare professionals and researchers can find more information on these conditions and related genetic changes in scientific databases such as PubMed. PubMed provides access to a comprehensive catalog of scientific articles on various health topics, including genetic disorders.

References:

1. OMIM – Online Mendelian Inheritance in Man. (OMIM)
2. UNC80 gene testing. (Genetests)
3. Channelosome. (PubMed)
4. NALCN deficiency syndrome. (PubMed)

UNC80 deficiency

UNC80 deficiency is a genetic condition caused by changes in the UNC80 gene. The information listed in this article is the result of databases, scientific articles, and other resources.

UNC80, also known as NALCN-unc80, is a gene involved in the formation of the channelosome complex. This complex plays a crucial role in the regulation of ion channels in neurons. In the absence or deficiency of UNC80, the channelosome complex cannot function properly, leading to various health conditions.

UNC80 deficiency is typically diagnosed through genetic testing, which can detect changes or variants in the UNC80 gene. These tests may be recommended based on clinical symptoms, family history, or other indications. Additional tests may be performed to assess the severity and specific effects of the UNC80 deficiency.

Individuals with UNC80 deficiency may experience a range of symptoms and health problems. The exact manifestations can vary widely, as the UNC80 gene is associated with various diseases and conditions. These include developmental delays, intellectual disability, movement disorders, seizures, and other neurological abnormalities.

Further information on UNC80 deficiency and related conditions can be found in scientific articles, references, and resources available on PubMed and OMIM. It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis and management of UNC80 deficiency.

It is important to note that the information provided in this article is for educational purposes only and should not be used for self-diagnosis or self-treatment. Always seek the guidance of a healthcare professional for personalized advice and proper medical care.

Other Names for This Gene

This gene is also known by other names:

• UNC80 complex with LEMD3 deficiency
• UNC80 gene
• UNC80 channel subunit of the LINC complex
• NALCN associated with severe intellectual disability, epilepsy, and absence of the “UNC80 channelosome”
• UNC80-related diseases

These names are used to refer to the same gene in different scientific resources and databases. The different names provide additional information about the gene, its function, and its association with certain conditions and diseases.

For testing and genetic counseling purposes, it is important to note that these names may be listed interchangeably in different resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and the Genetic Testing Registry (GTR).

In the absence of comprehensive testing and variant databases, health care providers and researchers rely on these resources to access information about the gene, its related conditions, and the associated genetic tests.

It is also worth noting that this gene is part of a complex network of genes and proteins involved in various cellular and physiological processes. The UNC80 gene plays a critical role in the function and regulation of the “UNC80 channelosome,” which is a multi-protein complex involved in ion channel signaling.

Further research and studies are necessary to fully understand the implications of changes or variations in the UNC80 gene and its related disorders and diseases. This gene and its associated conditions are the subject of ongoing scientific exploration and investigation.

Additional Information Resources

There are several other related resources that can provide additional information on the UNC80 gene and related conditions:

• Registry and Databases: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions associated with UNC80 gene deficiency. Other databases and registries may also have relevant information.
• Gene Names: The UNC80 gene is also known by other names. These alternative names can be useful when searching for more information on the gene and its functions.
• Channelosome: The UNC80 gene is part of the channelosome, a complex of genes involved in ion channel function. Additional resources on the channelosome can provide insight into the role of UNC80 in cellular processes.
• References and Scientific Articles: PubMed is a valuable resource for finding scientific articles related to the UNC80 gene. These articles may provide more in-depth information on the gene, its variants, and associated diseases.
• Genetic Testing: For individuals with suspected UNC80 gene deficiency or related conditions, genetic testing can provide a definitive diagnosis. Consult with a healthcare professional or genetic counselor to learn more about available tests.
• Additional Genes: The UNC80 gene may interact with other genes and proteins to carry out its functions. Exploring the roles of these other genes can provide a more comprehensive understanding of UNC80-related conditions.
• NIH Office of Rare Diseases Research: The Office of Rare Diseases Research at the National Institutes of Health (NIH) provides resources and information on rare genetic conditions, including those related to UNC80 gene deficiency.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. This includes the names of the tests, references to scientific articles and databases, and information related to the genes and conditions being tested.

The GTR provides a comprehensive list of tests for various genetic disorders, including the UNC80 gene. The UNC80 gene is involved in a complex called the NALCN-UNC80-UNC79 ion channelosome, which plays a crucial role in neuronal development and function.

Tests for the UNC80 gene can help diagnose conditions such as UNC80 deficiency. These tests determine if there are any changes or mutations in the UNC80 gene that may result in the absence or dysfunction of the NALCN-UNC80-UNC79 ion channelosome. Such deficiencies can lead to neurological disorders and developmental delays.

In addition to the UNC80 gene, the GTR lists and provides information about tests for other genes associated with similar conditions. These resources can be used to investigate related diseases and find additional information about genetic testing.

The GTR references scientific articles and databases, such as PubMed, OMIM, and GENET.OMIM. These references provide further insight into the genetic basis of various conditions and the significance of genetic changes observed in testing.

Overall, the GTR is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing. It allows easy access to up-to-date information about genetic tests, their associated genes, and the conditions they are linked to.

Scientific Articles on PubMed

PubMed is a widely used database that contains a vast collection of scientific articles on various topics, including genetics and related diseases. Researchers and healthcare professionals can access this database to find information about specific genes, such as the UNC80 gene, which is associated with certain health conditions.

UNC80 gene, also known as Unc-80 homolog, is a gene that encodes a protein involved in the function of channelosomes. Channelosomes are complex molecular structures that regulate ion channels in cells. Genetic changes in the UNC80 gene can result in deficiency or absence of certain channelosomes, leading to various diseases and disorders.

PubMed provides a comprehensive collection of articles related to the UNC80 gene. These articles cover a wide range of topics, such as the identification and characterization of UNC80 gene variants, the role of UNC80 gene in specific health conditions, and the testing and diagnostic methods for UNC80 gene-related disorders.

To access scientific articles on PubMed related to the UNC80 gene, researchers and healthcare professionals can perform a search using various keywords. Some relevant keywords for searching UNC80 gene articles on PubMed include “UNC80 gene,” “UNC-80 homolog,” “channelosomes,” “genetic changes,” “deficiency,” “variant,” “genetic testing,” “health conditions,” and “related diseases.”

In addition to scientific articles, PubMed also provides other resources such as the OMIM database, which contains cataloged information about genes and genetic conditions. This database can be helpful in finding references and additional information about the UNC80 gene and its associated health conditions.

Overall, PubMed is a valuable resource for researchers and healthcare professionals looking for scientific articles and information about the UNC80 gene. By utilizing the vast collection of articles and other resources available on PubMed, researchers can gain a better understanding of the genetic and molecular basis of UNC80 gene-related diseases and develop new diagnostic and treatment approaches.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive online catalog of genes and genetic disorders. It provides valuable information on various genes and associated diseases and conditions.

The catalog includes genes from different scientific databases and resources, such as Genet, PubMed, and others. It lists genes related to a wide range of genetic diseases and conditions.

One of the genes listed in the OMIM catalog is the UNC80 gene. Variants and deficiency of this gene can result in certain health conditions. The absence or changes in this gene can lead to channelosome defects and other related disorders.

OMIM provides additional resources and articles on these genes and diseases. These publications include scientific articles, testing information, and references for further research.

Testing for the UNC80 gene and related conditions can be done through genetic testing. OMIM provides information on available tests and their references to help healthcare professionals and individuals in understanding and diagnosing the associated conditions.

Other names for the UNC80 gene include NALCN-associated channelopathy and NALCN-related disorders.

Overall, OMIM serves as a comprehensive registry and catalog of genes and diseases. It provides valuable information on genetic conditions, testing resources, and scientific publications.

Gene and Variant Databases

When researching the UNC80 gene and its associated variants, it is important to consult various gene and variant databases to gather comprehensive information. These databases provide a wealth of knowledge related to gene function, genetic changes, and related health conditions.

One of the most widely used databases is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on the genes and genetic conditions. Another useful database is Genet, which focuses on gene function, variant classification, and associated diseases.

These databases provide information on the UNC80 gene, including its biological functions, associated genetic changes, and diseases resulting from its deficiency. They also list other genes that may interact with UNC80 and contribute to similar health conditions.

It is important to note that the absence or deficiency of the UNC80 gene can result in channelopathy, a group of diseases characterized by dysfunction in ion channel proteins. Additional information on these diseases can be found in the databases mentioned above.

When conducting research on the UNC80 gene and its variants, PubMed is another valuable resource. It provides access to scientific articles, abstracts, and references related to the gene and its associated health conditions.

Diagnostic testing for UNC80 gene variants is available through specialized laboratories and clinics. These tests involve analyzing the genetic sequence and identifying changes or mutations in the gene. As a result, they can provide valuable information for healthcare professionals in diagnosing genetic diseases.

To conclude, gene and variant databases such as OMIM, Genet, and PubMed offer extensive information on the UNC80 gene and its associated variants. They provide essential resources for understanding the gene’s function, related health conditions, and diagnostic testing options.

References

• This article on UNC80 gene was written based on information from the following sources:

1. Health Conditions

   Channelosome Diseases

   UNC80-related developmental and epileptic encephalopathy

2. Scientific Articles

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3. Tests and Testing

   Changes in the UNC80 gene can be identified through genetic testing

   Testing for UNC80 deficiency

4. Other Genes

   UNC80 interacts with other genes, such as NALCN

5. Resources

   –

6. Scientific Information

   Additional information on UNC80 gene can be found on PubMed

7. Databases

   OMIM – Online Mendelian Inheritance in Man provides information on various genetic conditions

   The GeneTests.org registry lists genes associated with specific diseases

8. Result

   The absence or deficiency of UNC80 gene can result in various health conditions

9. References

   For more references on UNC80 gene, please visit the sources mentioned above

(Please note that the information provided here is for reference purposes only and should not replace professional medical advice.)