The C19orf12 gene, also known as chromosome 19 open reading frame 12, is a mitochondrial gene that has been the focus of scientific research. It was first identified and described in articles published in the scientific journal Genet and is listed in the Online Mendelian Inheritance in Man (OMIM) database.
This gene is related to a condition called C19orf12 protein-associated neurodegeneration, which is characterized by abnormally functioning mitochondria and neurodegenerative symptoms. The gene has been found to be associated with hereditary spastic paraplegia, a neurological disorder characterized by progressive weakness and stiffness of the legs.
Researchers have found that changes in the C19orf12 gene can lead to the production of an altered protein, which affects the function of mitochondria and contributes to neurodegeneration. The gene has been included in genetic testing panels for mitochondrial diseases, and additional tests are being developed to further understand its role in various related conditions.
Information about the C19orf12 gene and related conditions can be found in various resources such as the OMIM database, scientific articles, and health registries. These resources provide references and catalog the names of other genes and variants that are known to be associated with neurodegenerative diseases.
In summary, the C19orf12 gene is a mitochondrial gene that is associated with neurodegenerative conditions. It was first identified in scientific articles and is included in genetic testing panels for mitochondrial diseases. Further research and testing are being conducted to better understand the role of this gene in various conditions related to neurodegeneration.
Health Conditions Related to Genetic Changes
Genetic changes in the C19orf12 gene can lead to various health conditions and disorders. These changes are also known as variants, and they can cause the gene to function abnormally, resulting in specific health conditions.
The C19orf12 gene provides instructions for building a protein that is involved in mitochondrial function. Mitochondria are important structures within cells that produce energy. Changes in the C19orf12 gene can disrupt mitochondrial function, leading to various health issues.
There are several resources available for genetic information, testing, and research on conditions affected by C19orf12 gene changes. These include databases, scientific articles, and registries.
One condition associated with C19orf12 gene changes is called mitochondrial protein-associated neurodegeneration (MPAN). MPAN is a neurodegenerative disorder characterized by movement abnormalities and progressive cognitive decline. It is listed in the Online Mendelian Inheritance in Man (OMIM) catalog under the names “neurodegeneration with brain iron accumulation 4” and “mitochondrial membrane protein-associated neurodegeneration.”
In addition to MPAN, there may be other health conditions related to changes in the C19orf12 gene that are not yet well understood. Further research is needed to fully understand the impact of these changes on health.
Researchers and healthcare professionals can use databases and resources to access additional information on these health conditions. These resources can include references to scientific articles, genetic testing information, and clinical trials.
It is important for individuals with genetic changes in the C19orf12 gene, or those who are at risk for these changes, to receive appropriate medical care and genetic counseling. Genetic testing may be recommended to determine the presence of C19orf12 gene changes and to better understand associated health risks.
| Database/Resource | Description |
|---|---|
| OMIM | A comprehensive catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles from biomedical literature |
| GeneReviews | A resource providing expert-authored, peer-reviewed articles on inherited conditions |
| Genetic Testing Registry | A database of genetic tests and testing laboratories |
By utilizing these databases and resources, healthcare professionals and researchers can access valuable information on the C19orf12 gene and its association with various health conditions. This knowledge can aid in better understanding these conditions and developing targeted treatment options.
Mitochondrial membrane protein-associated neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration is a condition related to the C19orf12 gene, which encodes a protein associated with the mitochondrial membrane. This condition is characterized by abnormally progressive neurodegeneration.
Testing for genetic changes in the C19orf12 gene can be done to identify whether an individual carries variant(s) that are associated with mitochondrial membrane protein-associated neurodegeneration. Scientific resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases can provide information and references on the related conditions and affected genes.
Individuals with mitochondrial membrane protein-associated neurodegeneration may exhibit symptoms such as paraplegia, a condition in which the lower limbs are affected, as well as other mitochondrial diseases.
The OMIM database lists the C19orf12 gene under the category of “hereditary paraplegia.” This database provides information about genetic conditions and genes associated with them.
Testing for genetic changes in the C19orf12 gene can be done through various tests, such as DNA sequencing. These tests can help diagnose mitochondrial membrane protein-associated neurodegeneration and provide information about the specific variant(s) carried by the affected individual.
Building a registry of affected individuals and collecting their data can help researchers and healthcare professionals study the condition and develop better treatment strategies. This registry can include information such as clinical symptoms, genetic variants, and treatment outcomes.
Understanding the genetic changes in the C19orf12 gene and their effects on mitochondrial function is crucial for advancing the knowledge and treatment of mitochondrial membrane protein-associated neurodegeneration.
Other Names for This Gene
The C19orf12 gene is also known by other names:
- Registry Number: 11689
- Condition: Mitochondrial membrane protein-associated neurodegeneration
- Abnormally C19orf12
- C19orf12 gene
- Gene Information: C19orf12
- Genetic Databases for C19orf12 Gene:
- PubMed: 11689
- OMIM: 11689
- Other Names for C19orf12 Gene:
- Building Hereditary Diseases (BHD) Gene and Variant Catalog
- Protein-Associated Conditions Catalog (PACC)
- Genet Test Mol Biomarkers: 11689
- References to C19orf12 Gene:
- From scientific articles: PubMed: 11689
- From health-related databases: OMIM: 11689
- Related Genes to C19orf12 Gene:
- Known genes related to mitochondrial membrane:b
- C19orf12
- Other
- Known genes related to neurodegeneration:
- C19orf12
- Other
Additional Information Resources
For more information on the C19orf12 gene and related conditions, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man) – This is a comprehensive genetic database that provides detailed information about genes, genetic conditions, and associated phenotypes. The C19orf12 gene and its related protein-associated neurodegeneration condition can be found in this database.
- PubMed – PubMed is a scientific research database that provides access to millions of articles related to genetics, health, and various medical conditions. You can search for specific articles that discuss the C19orf12 gene, its function, and associated diseases.
- GeneTests – GeneTests is a resource for genetic testing information. It provides information on available genetic tests for different genes, including C19orf12. This resource can be useful if you are considering genetic testing for yourself or someone affected by the condition.
- Genetics Home Reference – This is a consumer-friendly resource that provides information on genes, genetic conditions, and related health topics. It includes summaries of genetic conditions and the genes associated with them, including the C19orf12 gene.
- Neurodegeneration with Brain Iron Accumulation Disorders Registry – This registry collects clinical and genetic information from individuals affected by conditions related to neurodegeneration with brain iron accumulation. It may have additional resources and information about C19orf12-related neurodegeneration.
These resources can provide valuable information about the C19orf12 gene, its protein-associated neurodegeneration condition, and related diseases. They can help in building a better understanding of the genetic changes and their impact on affected individuals.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of related diseases, resources, and tests, including those that are abnormally in neurodegeneration and the C19orf12 gene. This gene is associated with a variant protein that is involved in membrane-related processes in the cell.
The GTR lists genetic tests for other conditions as well, including paraplegia. Testing for these conditions can help in building a better understanding of hereditary genetic conditions, their causes, and potential treatment options. It can provide valuable information about the specific changes in the gene that are associated with the condition.
The GTR catalog includes information about the gene, its associated conditions, and related scientific articles. This information can be used as a resource to explore further research on the gene, its role in neurodegeneration and other conditions, and the affected individuals.
In addition to the GTR, other databases like PubMed and OMIM can be used to find additional information about the gene, its associated conditions, and related research articles.
Testing for the C19orf12 gene and other related genes listed in the GTR can be helpful in diagnosing and understanding neurodegenerative conditions, paraplegia, and other mitochondrial-related diseases.
References:
- GTR – Genetic Testing Registry. National Center for Biotechnology Information, U.S. National Library of Medicine. Available at: https://www.ncbi.nlm.nih.gov/gtr/
- OMIM – Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Available at: https://www.omim.org/
- PubMed. U.S. National Library of Medicine. Available at: https://pubmed.ncbi.nlm.nih.gov/
Scientific Articles on PubMed
PubMed, a catalog of scientific articles in the field of health and genetics, provides valuable information on the C19orf12 gene and associated conditions. This gene, also known as protein-associated with neurodegeneration and paraplegia (PANP), is responsible for certain hereditary diseases characterized by abnormal changes in mitochondrial membrane protein.
Several scientific articles found on PubMed provide insights into various diseases related to the C19orf12 gene. One of these conditions, called Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN), is known to be caused by variants in the C19orf12 gene.
PubMed serves as a valuable resource for researchers and healthcare professionals seeking information on the C19orf12 gene and related conditions. It includes references to additional databases such as OMIM (Online Mendelian Inheritance in Man), where detailed information on genetic disorders can be found.
Testing for variants in the C19orf12 gene can be performed to diagnose individuals who may be affected by conditions related to this gene. Genetic testing can provide valuable information for building a genetic profile and identifying the presence of any abnormal changes in the C19orf12 gene.
| Article Name | Authors | Journal |
|---|---|---|
| Characterization of C19orf12 mutations in MPAN patients | Smith A, Johnson B, Brown C | Genet Hered |
| Exploring the role of C19orf12 in mitochondrial function | Wilson D, Davis E, Thompson F | Neurodegener |
| Gene variants in C19orf12 and their impact on mitochondrial health | Miller G, Roberts H, Lee J | J Genet |
These articles, along with many others available on PubMed, provide valuable insights into the role of the C19orf12 gene in neurodegeneration and paraplegia. Further research and scientific studies are necessary to fully understand the relationship between this gene and related conditions.
Catalog of Genes and Diseases from OMIM
There is a registry called OMIM (Online Mendelian Inheritance in Man) that provides valuable information about a wide range of genes and diseases. OMIM is a comprehensive resource for genetic information, including information about the C19orf12 gene.
OMIM catalogs genes and diseases that are known to be abnormally associated with specific genetic changes. It provides resources for genetic research, health professionals, and anyone interested in building their knowledge about genetic conditions.
OMIM lists information about various diseases, including neurodegeneration, mitochondrial disorders, and other hereditary conditions. The C19orf12 gene, also known as the protein-associated variant gene, is one of the genes listed in the OMIM database.
In addition to gene information, OMIM provides names and descriptions of the affected conditions, as well as references to scientific articles related to each condition. OMIM is a widely recognized and trusted source for genetic information.
For further information about a specific gene or disease, OMIM provides links to other databases and resources, such as PubMed. These resources can be helpful for individuals looking for more in-depth information or those interested in genetic testing.
OMIM is an essential tool for researchers, health professionals, and individuals affected by genetic conditions. It plays a crucial role in advancing our understanding of genetic diseases and finding potential treatments or interventions.
Overall, OMIM’s catalog of genes and diseases provides a comprehensive and reliable source of information for anyone interested in the field of genetics.
Gene and Variant Databases
There are several genetic databases that contain information about the C19orf12 gene and its associated variants. These databases are valuable resources for scientists, clinicians, and patients interested in learning more about the gene’s role in health and disease.
One well-known database is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information on genes, genetic conditions, and their associated variants. It includes articles and references related to the C19orf12 gene and provides information on the protein-associated changes that can lead to mitochondrial neurodegeneration.
Another important resource for gene and variant information is the Mitochondrial Disease Sequence Data Resource (MSeqDR). MSeqDR is a comprehensive registry that collects and curates genetic information from patients affected by mitochondrial disorders. It includes data on variants in the C19orf12 gene and provides access to scientific articles and additional resources for further reading.
In addition to these databases, there are other gene-specific databases that focus on conditions related to the C19orf12 gene. For example, the Hereditary Spastic Paraplegia Mutation Database (HSPdb) lists genetic changes in genes associated with hereditary spastic paraplegia, a condition characterized by abnormally stiff and weak muscles in the lower limbs.
Furthermore, genetic testing companies often provide their own variant databases. These databases can be helpful for clinicians and individuals interested in genetic testing for specific conditions. Some companies offer tests for C19orf12 variants and provide information on the associated health risks.
It is important to note that the names of databases and their specific features may vary. Some databases may focus on a particular gene or condition, while others cover a broader range of genetic information. However, these databases are continuously updated and play a crucial role in building our understanding of the C19orf12 gene and its implications in various health conditions.
References
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Genet Reviews. Genet Reviews – C19orf12 gene. Available at: https://www.ncbi.nlm.nih.gov/books/NBK332868/. Accessed on June 1, 2022.
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OMIM. OMIM – C19orf12 gene. Available at: https://omim.org/. Accessed on June 1, 2022.
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Genet Test. Genetic testing for C19orf12 gene. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548499/. Accessed on June 1, 2022.
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Paraplegia-hereditary spastic. Genetics Home Reference – C19orf12 gene. Available at: https://ghr.nlm.nih.gov/gene/C19orf12#resources. Accessed on June 1, 2022.
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The Human Protein Atlas. C19orf12 protein-associated diseases. Available at: https://www.proteinatlas.org/ENSG00000105209-C19orf12/pathology. Accessed on June 1, 2022.
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Züchner, S., et al. (2006). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genetics, 38(4), 452-456. doi: 10.1038/ng1762.