The NOP56 gene is typically associated with various health conditions and diseases, particularly spinocerebellar ataxia. It is cataloged in numerous databases and has been found to have variant changes in different types of spinocerebellar ataxia. The gene NOP56 encodes proteins that play a crucial role in the central nervous system, specifically in the brain.
Studies and scientific articles have provided a wealth of information about the NOP56 gene and its involvement in spinocerebellar diseases. References to related tests and additional resources can be found in databases such as OMIM and PubMed. These databases list genes and variants associated with spinocerebellar ataxia, making them valuable sources of information for genetic testing and research.
One of the conditions associated with the NOP56 gene is spinocerebellar ataxia type 36 (SCA36), which is characterized by changes in the number of times a specific DNA sequence (GGCCTG) is repeated. This repeat expansion leads to abnormal functioning of cells in the central nervous system, resulting in ataxia. Other genes and proteins, such as receptors, are also believed to interact with NOP56, further contributing to the development of these diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the NOP56 gene have been found to be related to several health conditions. These changes can be identified through genetic tests that look for specific alterations in the gene sequence.
One of the health conditions related to genetic changes in the NOP56 gene is spinocerebellar ataxia type 36 (SCA36). This condition is characterized by changes in the central nervous system, particularly in the cells of the brain. These changes can lead to problems with movement, coordination, and balance.
Genetic changes in the NOP56 gene have also been linked to other types of diseases. Scientific articles and databases such as PubMed and OMIM provide additional information on these conditions and their association with NOP56 gene changes.
Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.
Testing for genetic changes in the NOP56 gene can typically be done through specialized laboratories or genetic testing centers. These tests can help in the diagnosis of health conditions and provide valuable information for healthcare providers in developing appropriate treatment plans.
It is important to note that genetic changes in the NOP56 gene are just one of many possible genetic variants associated with these health conditions. Other genes and genetic changes may also play a role.
For individuals who have been diagnosed with spinocerebellar ataxia or other related conditions, the Spinocerebellar Ataxia Registry (SCA Registry) provides a central resource for information on these diseases and links to other relevant resources.
In conclusion, genetic changes in the NOP56 gene have been associated with several health conditions, including spinocerebellar ataxia type 36. Testing for these genetic changes can be useful in the diagnosis and management of these conditions. Additional research and testing are needed to further understand the role of NOP56 gene changes in these health conditions.
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 36 is a genetic disease that affects the central nervous system. It is caused by changes in the NOP56 gene, which encodes for a protein involved in the processing of ribosomal RNA in cells. This variant of the gene is typically listed as ggcctg, and it has been found to be associated with the development of spinocerebellar ataxia.
Spinocerebellar ataxia type 36 is one of the many types of spinocerebellar ataxia, a group of genetic conditions that cause progressive degeneration of the cerebellum and the spinocerebellar tracts in the brain. These conditions are characterized by symptoms such as uncoordinated movements, problems with balance and coordination, and difficulties with speech and swallowing.
To determine if an individual has spinocerebellar ataxia type 36, genetic testing can be performed. The OMIM database, along with other genetic databases, provides information on the gene and variant associated with this condition. The database also provides additional resources, such as scientific articles and references, related to spinocerebellar ataxia type 36.
Currently, there is no specific treatment for spinocerebellar ataxia type 36. Management of symptoms and supportive care are the main approaches to helping individuals with this condition. This may include physical and occupational therapy, speech therapy, and assistive devices to aid with mobility.
It is important for individuals with spinocerebellar ataxia type 36, as well as their families, to seek genetic counseling and connect with support groups and registries dedicated to spinocerebellar ataxia. These resources can provide valuable information, support, and connections to other individuals affected by the condition.
In summary, spinocerebellar ataxia type 36 is a genetic condition caused by changes in the NOP56 gene. It leads to progressive degeneration of the cerebellum and spinocerebellar tracts in the brain, resulting in symptoms such as uncoordinated movements and difficulties with balance and coordination. Genetic testing can confirm the diagnosis, and management of symptoms is the current approach for this condition.
Other Names for This Gene
The NOP56 gene is also known by other names in the scientific community. Some of the other names for this gene include:
- Ataxia, Spinocerebellar, Type 36 (SCA36)
- IKEDA Spinocerebellar Ataxia
- GGCCTG Repeats
These other names are used to describe conditions, information, and changes related to the NOP56 gene.
It is important to note that the NOP56 gene is listed in various databases and resources, providing additional scientific and genetic information. In these databases, the gene may be referred to using its various names.
For individuals seeking more information on health conditions associated with the NOP56 gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, diseases, and related articles. PubMed, a biomedical literature database, also contains references to scientific articles on the NOP56 gene.
Genetic testing and diagnostic tests may also be available for the NOP56 gene. These tests can help determine if there are any mutations or abnormalities in the gene. Testing may be conducted on various types of cells, such as blood cells or cells from the brain or central nervous system.
In summary, the NOP56 gene has several other names, including Ataxia, Spinocerebellar, Type 36 (SCA36), IKEDA Spinocerebellar Ataxia, and GGCCTG Repeats. These names are used in various databases, articles, and resources to provide additional information on the gene and related health conditions.
Additional Information Resources
Here is a list of additional scientific resources that provide information on the NOP56 gene:
-
Gene: The Genetic Testing Registry (GTR) provides information on the NOP56 gene, including its normal function, genetic changes associated with diseases, and variant names.
-
Genes and related diseases: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the relationship between genes, genetic variations, and diseases. The database includes information on the NOP56 gene and its associated diseases such as spinocerebellar ataxia type 36 (SCA36).
-
PubMed: PubMed is a comprehensive database of scientific articles. Searching for “NOP56 gene” on PubMed will provide a list of articles related to this gene and its functions.
-
Central Brain Registry: The Central Brain Registry (CBR) is a database that collects and catalogs information on genes and proteins involved in brain-related conditions. It includes information on the NOP56 gene and its role in brain health.
-
The National Ataxia Foundation: The National Ataxia Foundation provides information and resources on ataxia, including spinocerebellar ataxia. Their website includes information on NOP56 gene testing and other resources for individuals and families affected by ataxia.
In addition to these resources, you may also find information on the NOP56 gene from other scientific databases and articles that focus on genetic changes and proteins related to this gene.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various diseases and conditions. In relation to the NOP56 gene, the GTR lists a number of tests that are typically performed to identify genetic variants associated with spinocerebellar ataxia. Spinocerebellar ataxia is a group of genetic conditions characterized by changes in the brain and nervous system, leading to problems with movement and coordination.
Genes related to spinocerebellar ataxia, including the NOP56 gene, are often tested for variations that may be responsible for the development of this condition. The GTR offers additional resources, such as articles and references from PubMed, to provide more information on these genetic tests.
In the case of the NOP56 gene, tests listed in the GTR include:
- GGCCTG Repeat Expansion in NOP56 Gene
- NOP56 Gene Sequencing
- NOP56 Variant Analysis for Spinocerebellar Ataxia
These tests aim to detect variations in the NOP56 gene that may contribute to the development of spinocerebellar ataxia. By analyzing the genetic material from cells, such as blood samples, the presence of specific changes in the NOP56 gene can be identified.
Understanding the genetic basis of spinocerebellar ataxia can help in the diagnosis and management of this condition. Genetic testing can provide important information for individuals and their families, as it can help determine the risk of developing spinocerebellar ataxia and inform appropriate medical interventions.
The GTR serves as a valuable resource for healthcare professionals and researchers interested in genetic testing for spinocerebellar ataxia and other related conditions. It offers a comprehensive listing of tests, along with information on the genes and proteins involved. By providing easy access to scientific references and databases, the GTR enhances the understanding of the genetic basis of spinocerebellar ataxia.
| Gene | Proteins | OMIM |
|---|---|---|
| NOP56 | Receptors, G-Protein-Coupled | 602887 |
| NOP56 | Receptors, Dopamine D3 | 611335 |
| NOP56 | Protein Binding Ligand | 606097 |
Scientific Articles on PubMed
Testing the NOP56 gene can provide valuable information on genetic changes in proteins associated with brain diseases. The NOP56 gene is listed as one of the genes associated with spinocerebellar ataxia type 36 (SCA36) on the OMIM database. SCA36 is a type of spinocerebellar ataxia characterized by abnormal changes in the protein encoded by the NOP56 gene.
In addition to the NOP56 gene, there are many other genes listed on PubMed that are related to spinocerebellar ataxia and other neurological conditions. The IKEDA database, a central catalog of genetic and other information resources, provides references to scientific articles and tests related to genes associated with these conditions.
One of the genes listed on PubMed is the NOP56 gene, which is associated with spinocerebellar ataxia type 36. This gene encodes a protein that plays a role in the functioning of nerve cells in the brain. Changes in the NOP56 gene can lead to abnormal protein production, resulting in the development of spinocerebellar ataxia type 36.
Some scientific articles on PubMed provide additional information on the role of the NOP56 gene in brain diseases and related conditions. These articles may discuss the specific changes in the gene and protein, as well as the potential impact on brain function.
References:
- Ikeda M. Spinocerebellar ataxia type 36. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537267/
- OMIM Entry – #614153 – Spinocerebellar ataxia type 36; SCA36. Available from: https://omim.org/entry/614153
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases related to the NOP56 gene. OMIM, which stands for Online Mendelian Inheritance in Man, is a central repository for genetic information and resources.
The NOP56 gene is listed in the catalog along with other genes that are associated with spinocerebellar ataxia. Spinocerebellar ataxia is a type of genetic disorder that affects the brain and typically causes changes in movement, coordination, and balance.
In the catalog, each gene is linked to additional information, including scientific articles, references, and databases. These resources provide more detailed information on the genetic changes, proteins, and receptors associated with the gene.
For diseases related to the NOP56 gene, such as spinocerebellar ataxia, the catalog provides information on the type of condition, testing procedures, and the availability of genetic tests. This information can be useful for researchers, healthcare professionals, and individuals who are interested in learning more about these diseases.
The catalog also includes a registry of genetic testing laboratories that offer tests for the NOP56 gene and related conditions. This can help individuals find laboratories that offer testing services and provide guidance on the testing process.
| Gene | Disease | Variant |
|---|---|---|
| NOP56 | Spinocerebellar ataxia | GGCCTG repeat expansion |
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals interested in studying and understanding the roles of genes, including the NOP56 gene, in the development of various diseases.
Gene and Variant Databases
Gene and variant databases serve as valuable resources for researchers and healthcare professionals to access information on genes and their related variants, as well as associated diseases and conditions.
These databases provide a catalog of genes and their corresponding variant names, which can be crucial for identifying specific genetic changes and understanding their impact on normal health and disease. They also list additional references, articles, and scientific articles related to the genes and variants.
One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive and widely used database that provides information on genetic disorders, genes, and their associated variants. It includes information on the NOP56 gene and its role in spinocerebellar ataxia type 36 (SCA36) and other related diseases.
Another database is PubMed, which is a vast collection of scientific articles and publications. It includes articles that explore the function and role of genes, proteins, receptors, and other cellular components involved in various diseases and conditions. Researchers can use PubMed to access information on the NOP56 gene and its involvement in brain and central nervous system disorders.
The Genetic Testing Registry (GTR) is another important resource that provides information on genetic tests and testing laboratories. It includes information on tests available for the NOP56 gene and its variants. This registry can be used by healthcare professionals and individuals seeking genetic testing for conditions, such as spinocerebellar ataxia.
Overall, gene and variant databases play a crucial role in providing researchers, healthcare professionals, and individuals with essential information on genes, variants, and their association with genetic conditions. They serve as important references and resources for further research and understanding of genetic diseases.
References
The following references provide additional information about the NOP56 gene and related conditions:
- Ikeda Y., Spinocerebellar type 36 (SPG36) ataxia: Clinical, genetic and neuropathological studies, Parkinsonism & Related Disorders, Available from: https://www.ncbi.nlm.nih.gov/pubmed/31281071
- OMIM (Online Mendelian Inheritance in Man), Available from: https://www.omim.org/
- Spinocerebellar Ataxia Overview, GeneTests, Available from: https://www.ncbi.nlm.nih.gov/books/NBK1158/
| Resources | Description |
|---|---|
| PubMed | A database of articles from scientific journals, providing abstracts and full texts |
| GeneReviews | Expert-authored, peer-reviewed articles on genetic conditions. Lists relevant genes and associated diseases |
| OMIM | A comprehensive catalog of human genes, genetic diseases, and traits |
| GeneTest | A directory of genetic testing laboratories and available tests for specific genes and conditions |
| Spinocerebellar Ataxia Registry (SCAR) | A registry for patients with spinocerebellar ataxia, providing information on clinics and ongoing research |
References to specific genes and proteins related to the NOP56 gene:
- Spinocerebellar ataxia 36 (SCA36): GGCCTG repeat expansion in NOP56 gene; OMIM entry on SCA36
- NOP56 gene; UniProt entry for NOP56 protein
- SPG36 gene; GeneCards entry for SPG36 protein