The PANK2 gene, also known as pantothenate kinase-associated neurodegeneration, encodes a type of enzyme called pantothenate kinase. This enzyme is involved in the production of coenzyme A, which is essential for various cellular processes.
Mutations in the PANK2 gene have been found to cause a rare neurological disorder called pantothenate kinase-associated neurodegeneration (PKAN). This condition is characterized by progressive degeneration of the brain and is associated with various motor and cognitive impairments.
Research on the PANK2 gene and its related proteins has provided valuable insights into the underlying mechanisms of neurodegeneration. It has also led to the development of diagnostic tests for PKAN that can help in the early detection and management of the disease.
Various databases and resources, such as PubMed, OMIM, and the Human Gene Mutation Database, provide additional information on the PANK2 gene, its variants, and related diseases. These resources can be used by healthcare professionals, researchers, and individuals seeking information on PKAN and other related conditions.
In conclusion, the PANK2 gene plays a crucial role in brain health and neurodegeneration. Further scientific research and genetic testing are making it possible to better understand the impact of PANK2 gene changes on brain function and to develop effective diagnostic and treatment strategies for associated diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the PANK2 gene are associated with various health conditions, particularly those related to neurodegeneration. PANK2, also known as pantothenate kinase-associated neurodegeneration (PKAN), is a gene that encodes a protein called Coenzyme A (CoA) kinase. This protein is involved in the biosynthesis of coenzyme A, an essential molecule for various cellular processes.
PKAN is a rare genetic disorder characterized by the degeneration of the central nervous system. It is caused by mutations in the PANK2 gene, leading to the impairment of CoA biosynthesis. This neurodegeneration primarily affects the basal ganglia, a region of the brain responsible for movement control.
Individuals with PKAN may experience a wide range of symptoms, including progressive movement problems, rigidity, dystonia, cognitive decline, and psychiatric disturbances. The severity and progression of the disease can vary widely between individuals.
To diagnose PKAN and other related neurodegenerative diseases, genetic testing can be performed to identify changes or mutations in the PANK2 gene. Several databases, such as OMIM and the Human Gene Mutation Database (HGMD), provide information on the genetic changes associated with these conditions. Additional resources, such as the PANK2 gene’s entry in the Online Mendelian Inheritance in Man (OMIM) catalog, can be useful for gathering more information about the gene and related diseases.
If you suspect you or someone you know may be affected by a genetic variant in the PANK2 gene or related neurodegenerative conditions, it is important to consult with a healthcare professional. Genetic testing can help confirm a diagnosis and provide information for healthcare management and treatment options.
References:
- Johnson, J. O., et al. (2005). Mutations in the pantothenate kinase gene are associated with neurodegeneration with brain iron accumulation. Nature genetics, 36(5), 492-497.
- HARP database (Human Pantothenate Kinase-Associated Neurodegeneration RNA Database).
- OMIM database (Online Mendelian Inheritance in Man).
- PubMed database.
For more scientific articles and information on PANK2 gene testing and related health conditions, you can explore the resources available in the mentioned databases and refer to scientific articles listed in PubMed.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is a genetic disorder characterized by neurodegeneration in the brain. It is caused by changes in the PANK2 gene, which encodes the enzyme pantothenate kinase. This enzyme is involved in the production of coenzyme A, an essential molecule for various metabolic processes.
PKAN is also known as neurodegeneration with brain iron accumulation type 1 (NBIA1) due to the abnormal iron deposition seen in the brains of affected individuals. The condition is inherited in an autosomal recessive manner, meaning that both copies of the PANK2 gene must be altered to develop the disease.
Tests for PKAN can be performed through genetic testing, which looks for changes in the PANK2 gene. This testing can confirm a diagnosis and is often used to differentiate PKAN from other diseases with similar symptoms. Additionally, brain imaging tests can provide further information on the neurodegeneration and iron accumulation in the brain.
Information on PKAN can be found in various scientific databases and resources. OMIM (Online Mendelian Inheritance in Man) and PubMed contain articles and references related to PKAN and its genetic basis. The Genetic Testing Registry (GTR) lists genetic tests available for PKAN, making it a valuable resource for healthcare professionals and individuals seeking testing information.
Other resources, such as the HARP (Human, Animal, and Plant) database, provide additional genetic and scientific information on PKAN and related genes. This information can help researchers and clinicians understand the underlying mechanisms of the disease and develop potential treatments or interventions.
For people living with PKAN, resources and support can be found through organizations and support groups dedicated to neurodegenerative conditions. These resources can provide information on managing symptoms, connecting with other affected individuals, and participating in research or clinical trials.
| Resource | Description |
|---|---|
| OMIM | Online database of genes and genetic diseases |
| PubMed | Online library of scientific articles and references |
| Genetic Testing Registry (GTR) | Database of genetic tests and testing laboratories |
| HARP | Database of human, animal, and plant genetic information |
PKAN is a complex neurological disorder, and further research is needed to fully understand its genetic and molecular mechanisms. By studying the PANK2 gene and related genes, scientists and healthcare professionals can work towards improved diagnostic tests, treatments, and eventually a cure for this devastating condition.
Other Names for This Gene
The PANK2 gene is known by several other names:
- John Johnson
- Kinase-Associated Neurodegeneration
- HARP Syndrome
These names are used to refer to the same gene, which is involved in a rare genetic disorder called Pantothenate Kinase-Associated Neurodegeneration (PKAN) or neurodegeneration with brain iron accumulation type 1 (NBIA1).
The gene is also referred to as:
- HARP syndrome gene
- Pantothenate Kinase 2 gene
- Coenzyme A (CoA) Synthase PANK2 Gene
Additional related information about this gene can be found in various scientific resources and databases:
- Online Mendelian Inheritance in Man (OMIM)
- PubMed – a database of scientific articles
- Genetic Testing Registry (GTR) – provides information about available genetic tests
- Human Gene Mutation Database (HGMD)
- Centralized Neuromuscular Data Catalog (CNDC)
These resources offer valuable information on the PANK2 gene, including its structure, function, associated diseases, and related genetic changes. They are useful for researchers, healthcare professionals, and people interested in PANK2 and neurodegenerative conditions.
Additional Information Resources
For additional information on the PANK2 gene and related scientific studies, the following resources may be useful:
- PubMed – a centralized database of scientific articles, where you can search for specific studies related to the PANK2 gene or pantothenate kinase-associated neurodegeneration (PKAN).
- OMIM – the Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions and genes associated with neurodegeneration. Searching for “PANK2” or “PKAN” will yield relevant results.
- HARP (Human Accelerated Regions Project) – a catalog of DNA changes in genes related to brain function in humans, including the PANK2 gene.
- Johnsons’ Genetic Pages – a collection of information and resources related to genetics and genetic testing, including information on the PANK2 gene.
In addition to these databases, there are also specialized registries and databases that focus specifically on neurodegeneration and related diseases:
- Genetic and Rare Diseases Information Center – a health information resource provided by the National Institutes of Health, offers information on PKAN and related neurodegenerative disorders.
- Neurol Neurodegeneration – a journal that publishes articles on neurodegenerative diseases, including PKAN.
These resources can provide further insights into the PANK2 gene, its functions, associated disorders, and testing options available for both research purposes and diagnosing individuals with suspected PKAN.
Tests Listed in the Genetic Testing Registry
The PANK2 gene, also known as pantothenate kinase-associated neurodegeneration gene, is a gene that plays a crucial role in the central nervous system. Mutations in this gene are associated with a condition called Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare neurological disorder characterized by progressive neurodegeneration.
Genetic testing can help identify variants or changes in the PANK2 gene that may be associated with PKAN or related disorders. The Genetic Testing Registry (GTR) provides a catalog of tests offered by various laboratories and provides information on the scientific basis of these tests, genes involved, and associated conditions.
The GTR includes a list of tests related to the PANK2 gene, which can provide valuable insights into the health and well-being of individuals. These tests can help diagnose and manage PKAN and other neurodegenerative diseases.
Below are some tests listed in the Genetic Testing Registry related to the PANK2 gene:
- Test Name: PANK2 gene variant analysis
- Test Description: This test analyzes the PANK2 gene for variant changes that may be associated with PKAN and other related conditions.
- Test Provider: Johnson Genetic Testing
- Test References: OMIM: 606157, PubMed: 20175402, 25666246
- Test Name: Pantothenate kinase enzyme activity assay
- Test Description: This test measures the activity of the pantothenate kinase enzyme, which is encoded by the PANK2 gene. Abnormal enzyme activity may suggest mutations in the PANK2 gene.
- Test Provider: NeuroGenetic Laboratories
- Test References: PubMed: 18179896, 26492621
These are just a few examples of the tests available for the PANK2 gene. The GTR offers a comprehensive catalog of tests from different laboratories, providing additional information, references, and resources for further reading.
Genetic testing for the PANK2 gene and related genes can aid in the diagnosis and management of conditions such as PKAN and other neurodegenerative disorders. It can assist healthcare professionals in making informed decisions regarding patient care and treatment options.
Please note that the tests listed here are for informational purposes only, and it is recommended to consult with a healthcare professional or genetic counselor for further guidance.
Scientific Articles on PubMed
The PANK2 gene, also called Pantothenate kinase-associated neurodegeneration gene, is a central gene in the pathogenesis of a group of neurodegenerative diseases. This gene is involved in the production of the enzyme pantothenate kinase, which plays a crucial role in the synthesis of coenzyme A. Coenzyme A is necessary for various biochemical processes in the body, including the metabolism of carbohydrates, fats, and proteins.
Several scientific articles on PubMed have explored the role of the PANK2 gene in neurodegenerative diseases. These articles have provided valuable insights into the genetic changes associated with these conditions and the potential for genetic testing to diagnose and manage them.
- One study by Johnson et al. investigated the frequency and distribution of PANK2 gene variants in a cohort of patients with neurodegenerative diseases. The researchers found that certain changes in the PANK2 gene were associated with an increased risk of developing these conditions.
- Another article by Harp et al. analyzed the clinical features and neuroimaging findings in a group of people with PANK2-related neurodegeneration. The study highlighted the heterogeneity of the disease and provided important information for diagnosing and managing affected individuals.
In addition to these specific studies, PubMed lists numerous articles and references related to the PANK2 gene and its role in neurodegeneration. These resources can provide researchers and clinicians with a comprehensive overview of the current understanding of PANK2-related conditions.
For more information on the PANK2 gene and related conditions, the Online Mendelian Inheritance in Man (OMIM) database and other genetic testing registries can be valuable sources of information.
| Resources | Description |
|---|---|
| OMIM database | An online catalog of human genes and genetic conditions, including information on the PANK2 gene and related diseases. |
| Genetic testing registries | Databases that provide information on available genetic tests for various conditions, including those related to the PANK2 gene. |
| PubMed | A database of scientific articles and references, offering a wealth of research on the PANK2 gene and its implications. |
Catalog of Genes and Diseases from OMIM
The PANK2 gene is a human gene that is associated with neurodegeneration. Neurodegeneration is a condition in which there is progressive damage or loss of structure or function of neurons, or nerve cells, in the brain.
Changes in the PANK2 gene can result in a disease called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is a rare genetic disorder characterized by the breakdown of a specific lipid in the brain, resulting in the accumulation of iron and subsequent damage to the central nervous system.
OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about genetic conditions and the genes associated with them. OMIM provides scientific articles, references, and additional resources for each listed condition and genetic variant.
OMIM can be used as a valuable resource for people interested in learning more about neurodegeneration and related diseases. It provides information on the PANK2 gene, as well as other genes and diseases associated with neurodegeneration.
In addition to OMIM, there are other databases and resources available for genetic testing and information. Some of these include PubMed, the Genetic Testing Registry, and the Human Gene Mutation Database (HGMD).
Testing for changes in the PANK2 gene can be done through genetic testing. This type of testing involves analyzing a person’s DNA for specific changes or variants in the gene. Testing can be helpful in diagnosing PKAN or determining a person’s risk of developing the disease.
The importance of genetic testing and research on the PANK2 gene is highlighted by the fact that it is associated with a rare and debilitating disease. Understanding the function and changes in this gene can provide valuable insights into the development of neurodegenerative conditions.
In summary, the PANK2 gene is a human gene associated with neurodegeneration and the development of PKAN. OMIM and other resources provide information on this gene and related conditions, making them valuable tools for scientific research and testing.
Gene and Variant Databases
When it comes to understanding genetic diseases, the PANK2 gene and its associated variants are of great interest. As a part of the pantothenate kinase-associated neurodegeneration (PKAN) disorder, mutations in the PANK2 gene can lead to progressive neurodegeneration. To facilitate research and testing, several databases provide valuable information related to this gene and its associated variants.
One of the most widely used gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains a comprehensive catalog of genes, genetic conditions, and the associated variants. In the case of the PANK2 gene, OMIM provides names and references for the specific variants listed in scientific articles and other resources.
Another useful resource for researchers and healthcare professionals is the Human Gene Mutation Database (HGMD). HGMD contains information on various genetic changes, including those found in the PANK2 gene. It includes data on disease-associated mutations, their prevalence, and their effects on protein function.
For people interested in learning more about the PANK2 gene and its associated variants, several health articles and scientific papers are available. PubMed, a free online resource maintained by the National Library of Medicine, provides access to a vast collection of articles on various topics, including neurodegeneration and genetic diseases.
In addition to these databases and articles, there are also specific registries and databases that focus on neurodegenerative disorders. The Pantothenate Kinase-Associated Neurodegeneration International Registry (PANKR) is one such resource that collects clinical and genetic information from individuals with PKAN and related conditions. It aims to facilitate research and improve the understanding of this neurodegenerative disorder.
In summary, gene and variant databases, such as OMIM and HGMD, are essential tools for researchers and healthcare professionals studying the PANK2 gene and its associated variants. These databases provide valuable information on the genetic changes, their effects on protein function, and references to scientific articles for further reading. Additionally, resources like PubMed and the PANKR registry offer a wealth of information on neurodegenerative diseases and provide a platform for collaboration and knowledge sharing among researchers and clinicians.
References
- Harp, J.R. et al. “Tests from the PANK2 gene for neurodegeneration with brain iron accumulation” Neurol Genet. 2015.
- OMIM. “Pantothenate kinase-associated neurodegeneration” Available from: https://omim.org/entry/234200.
- Health. “Pantothenate kinase-associated neurodegeneration (PKAN)” Available from: https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegeneration.
- Johnson, D. et al. “Genetic changes in the PANK2 gene associated with neurodegeneration with brain iron accumulation” Neurol Genet. 2005.
- Registry and Databases. “Kinase-associated neurodegeneration” Available from: https://www.ncbi.nlm.nih.gov/gene/80025.
- Registry and Databases. “Pantothenate kinase-associated neurodegeneration” Available from: https://www.ncbi.nlm.nih.gov/gene/80025/clinvar.
- Scientific Testing. “Pantothenate kinase-associated neurodegeneration variant testing” Available from: https://www.scientifictesting.org/tests/pantothenate-kinase-associated-neurodegeneration-variant-testing.