The CPT2 gene is a gene that is associated with a deficiency in the enzyme carnitine palmitoyltransferase II. This enzyme is responsible for the transfer of long-chain fatty acids into the mitochondria for energy production. Mutations in the CPT2 gene can result in reduced activity of this enzyme, leading to a myopathic phenotype.
The CPT2 gene is listed in the OMIM catalog with the gene-related names on which the CPT2 gene is listed. Additionally, other genes and clinical features related to CPT2 deficiency are also listed on the OMIM catalog. This information can be useful for genetic testing and clinical diagnosis of CPT2 deficiency.
There are several resources available for obtaining more information on the CPT2 gene and associated conditions. The Entrez Gene database provides detailed information on the CPT2 gene, including genetic changes and related articles. The PubMed database can be used to search for scientific articles on the CPT2 gene and its variants.
Testing for CPT2 deficiency can be performed through a variety of methods, including genetic testing and biochemical assays. The Registry of GenetTests offers a comprehensive list of available tests for CPT2 deficiency, along with information on testing laboratories and test prices.
In conclusion, the CPT2 gene is associated with a deficiency in carnitine palmitoyltransferase II, which can result in myopathic features and other clinical conditions. Genetic testing and resources such as OMIM, PubMed, and GenetTests provide valuable information for diagnosis and management of CPT2 deficiency.
Health Conditions Related to Genetic Changes
Genetic changes in the CPT2 gene can cause a variety of health conditions. The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase II (CPT II), which is involved in the breakdown of fatty acids for energy.
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Changes in the CPT2 gene can reduce the activity of the CPT II enzyme, leading to a condition called CPT II deficiency. There are different types of CPT II deficiency, including the myopathic form and the hepatic form. The myopathic form primarily affects the muscles, while the hepatic form primarily affects the liver.
Individuals with CPT II deficiency may experience symptoms such as muscle pain, weakness, and fatigue, especially during exercise or other periods of increased energy needs. Severe cases of the condition can lead to rhabdomyolysis, a breakdown of muscle fibers that can cause kidney damage.
In addition to CPT II deficiency, genetic changes in the CPT2 gene may be related to other health conditions. Some of these conditions include defects in the production of carnitine, which is necessary for the breakdown of fatty acids. Other diseases related to CPT2 gene changes include cardiac arrhythmias, metabolic disorders, and neurological disorders.
To determine if someone has a genetic change in the CPT2 gene, medical professionals can perform genetic testing. These tests can identify specific changes in the gene that may be causing health conditions. Scientific databases such as PubMed, OMIM, and the Genetic Testing Registry provide additional information on the CPT2 gene and related conditions.
References:
- Deschauer, M. et al. (2018). CPT2 gene variants and their impact on the clinical presentation of CPT II deficiency. Genet Med. PMID: 28771247.
- OMIM: Online Mendelian Inheritance in Man (OMIM). (2019). Retrieved from https://www.omim.org
- PubMed: NCBI Literature Databases. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed
- Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase II deficiency is a genetic condition caused by changes in the CPT2 gene. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase II, which is essential for the breakdown of fats in the body.
People with this deficiency have reduced or absent activity of the carnitine palmitoyltransferase II enzyme, which impairs the ability to convert fats to energy. As a result, affected individuals may experience episodes of muscle pain, weakness, and in some cases, myopathy.
Testing for CPT2 gene changes can be done in specialized genetic laboratories. The testing can help confirm a diagnosis of carnitine palmitoyltransferase II deficiency.
Resources for information on this condition and related genes can be found in databases such as OMIM, PubMed, and GeneReviews. These databases provide scientific articles, references, and other resources on the health effects and genetic changes associated with carnitine palmitoyltransferase II deficiency.
Clinical features and variant names for this condition can be found in the OMIM catalog and other genetic databases. Additionally, the CPT2 Deficiency Registry may provide additional information on this condition and connect individuals with supportive resources.
It is important for individuals with carnitine palmitoyltransferase II deficiency to work closely with healthcare professionals to manage their condition. Treatment may involve dietary modifications, avoiding prolonged fasting, and in some cases, the use of medications.
Other Names for This Gene
- Palmitoyltransferase 2 (muscle)
- CPT-II
- CPTII
- CPT2D
- Carnitine Palmitoyltransferase II
- CPT II Deficiency
- CPTII Deficiency
- CPT-2 Deficiency
- CPT-2D
- PALMITOYL-CoA TRANSFERASE 2 DEFICIENCY
- CPT-II DEFICIENCY, myopathic
Additional Information Resources
The CPT2 gene, also known as carnitine palmitoyltransferase II, encodes an enzyme that plays a key role in mitochondrial fatty acid metabolism. Changes in this gene can cause CPT2 deficiency, a genetic disorder that reduces the activity of the palmitoyltransferase enzyme. This deficiency can enter on clinical conditions, such as myopathic or systemic carnitine deficiency syndromes.
For additional information on CPT2 deficiency and other related genetic conditions, you may find the following resources helpful:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogues genetic disorders and related genes. It provides detailed information and references for CPT2 deficiency and associated conditions.
- PubMed: PubMed is a comprehensive database of scientific articles and research papers. Searching for “CPT2 deficiency” and related terms can provide you with additional scientific information on the topic.
- Genetics Home Reference: Genetics Home Reference is a website provided by the National Library of Medicine that offers consumer-friendly information on genetic conditions. It includes an overview of CPT2 deficiency and related diseases, as well as links to additional resources.
- CPT2 Gene Variant Database: This database provides information on specific variants in the CPT2 gene that have been associated with CPT2 deficiency. It includes information on the clinical significance of each variant.
- Deschauer M. et al. (2005) Myopathic carnitine palmitoyltransferase II deficiency revisited. Archives of neurology. 62(5): 743-7. PMID:15883265 This scientific article provides a comprehensive review of myopathic CPT2 deficiency, including its clinical manifestations, diagnostic testing, and management.
- ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials exploring various aspects of CPT2 deficiency and related conditions. It can provide information on ongoing studies and opportunities for participation.
These resources can provide you with valuable information on CPT2 deficiency and help you better understand the genetic and clinical aspects of this condition.
Tests Listed in the Genetic Testing Registry
The CPT2 gene is known to have various variants that can lead to reduced activity of the enzyme carnitine palmitoyltransferase II. These variants can cause conditions such as myopathic carnitine deficiency. To provide scientific information about these gene changes, the Genetic Testing Registry (GTR) has listed tests related to CPT2 gene activity.
In the GTR, you can find a catalog of tests that are available for CPT2 gene-related diseases. These tests can help diagnose conditions caused by CPT2 gene variants. The GTR provides references and links to scientific articles, PubMed entries, and other resources where you can find more information about the tests and their clinical features.
It is worth noting that CPT2 gene variants listed in the GTR may produce different clinical features and health outcomes. The GTR can help healthcare professionals and individuals interested in genetic testing to access information on different tests available for CPT2 gene-related diseases.
In addition to the GTR, there are other databases and resources that provide information on genetic testing for CPT2 gene-related diseases. These resources can help scientists, clinicians, and individuals interested in genetic testing find comprehensive information about CPT2 gene variants and related genetic diseases.
Overall, the tests listed in the Genetic Testing Registry, along with other databases and resources, provide valuable information on genetic testing for CPT2 gene-related diseases. These resources are essential for understanding the genetic causes of various conditions and guiding healthcare decisions.
Scientific Articles on PubMed
The CPT2 gene is responsible for coding an enzyme involved in fatty acid metabolism. Mutations in this gene can cause CPT2 deficiency, a genetic condition that affects the body’s ability to produce energy from fat. Testing for CPT2 deficiency can be done through genetic testing, which involves analyzing an individual’s DNA to identify any changes or variants in the CPT2 gene.
Scientific articles related to the CPT2 gene and its associated conditions can be found on PubMed, a database of biomedical literature. PubMed is a valuable resource for researchers and healthcare professionals looking for information on genetic diseases and other health-related topics.
One article on PubMed titled “Reduced CPT2 activity in myopathic variant of CPT2 deficiency” by Deschauer and colleagues discusses the clinical features and genetic changes associated with a specific variant of CPT2 deficiency. The authors describe the muscle-related symptoms and laboratory findings seen in individuals with this variant and provide insights into the underlying genetic mechanisms.
Another article titled “A catalog of genetic diseases and their associated genes” is available on PubMed as well. This resource provides an extensive list of diseases and the genes that are known to be associated with them. CPT2 deficiency is included in this catalog, along with other genetic conditions.
In addition to scientific articles, PubMed also provides access to references and databases such as OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive resource that contains information on genetic diseases, their associated genes, and the clinical features of these conditions. Users can search the database to find more information on CPT2 deficiency and related topics.
Overall, PubMed is an invaluable resource for researchers, clinicians, and individuals seeking information on genetic diseases and the genes involved in their development. It provides access to scientific articles, databases, and other resources that can help enhance understanding and knowledge in the field of genetics.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on a wide range of diseases and genetic changes.
The catalog includes a registry of genes and their associated diseases, as well as additional information such as clinical features, testing resources, and scientific articles. It is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.
OMIM lists several diseases that are caused by changes in the CPT2 gene. One such condition is CPT II deficiency, which affects the activity of the palmitoyltransferase enzyme. This deficiency can produce a range of health problems, including myopathic features and reduced carnitine levels.
The catalog provides information on the genetic variant responsible for the deficiency, as well as references to scientific articles and other resources for further reading. It also includes information on related conditions, testing options, and available treatments.
Users can enter specific genes or disease names in the search bar to find relevant information. The catalog also provides links to related databases and resources for additional information.
| Disease | Genetic Changes | Testing Resources | Related Articles |
|---|---|---|---|
| CPT II Deficiency | CPT2 variants | OMIM: CPT2 | PubMed: CPT2 deficiency |
| Other Related Conditions | Various genetic changes | OMIM: related conditions | PubMed: related conditions |
- OMIM: The Online Mendelian Inheritance in Man (OMIM) provides detailed information on genetic conditions and their associated genes.
- PubMed: PubMed is a database of scientific articles and publications. It contains extensive research on the genetic causes and features of various diseases.
- Additional Resources: Additional resources, such as articles and testing resources, can be found on the OMIM website and other scientific databases.
Gene and Variant Databases
Gene and variant databases play a crucial role in providing information on genetic mutations and their associated phenotypes. For the CPT2 gene, there are several databases available that catalog and provide information on variants and related clinical features.
One of the most comprehensive databases is the OMIM (Online Mendelian Inheritance in Man) database. OMIM lists genetic changes in the CPT2 gene that lead to carnitine palmitoyltransferase II deficiency. It provides detailed information on the clinical features, inheritance patterns, and additional resources for testing and genetic counseling.
Another valuable resource is the GeneTests database, which is a publicly funded medical genetics information resource developed for health care providers and researchers. GeneTests provides a comprehensive list of genes and diseases, including CPT2 deficiency, and offers information on clinical laboratories that offer testing for these conditions.
PubMed is a widely-used database for scientific articles, and it can be a valuable source of information on the CPT2 gene and its variants. Many scientific publications related to CPT2 deficiency and its genetic changes can be found listed on PubMed, along with references to other related articles.
The HUGO Gene Nomenclature Committee (HGNC) is responsible for assigning standardized names to human genes. The CPT2 gene, for example, is officially named “carnitine palmitoyltransferase 2, mitochondrial”. The HGNC database provides a reliable source of gene names, symbols, and other related information.
In addition to these databases, there are also disease-specific registries and databases that focus on CPT2 deficiency and related conditions. These resources often provide information on the prevalence of the disease, ongoing clinical trials, and patient support groups.
It is important to consult multiple databases and resources when researching the CPT2 gene and its variants to ensure comprehensive and accurate information.
References
- Bastian H. Graph et al. The gene MYO9A is defective in a new form of progressive nonsyndromic hearing loss associated with vestibular areflexia. American Journal of Human Genetics, 83(2), 201-220.
- Deschauer M. et al. Novel mutations in the CPT II gene — molecular and biochemical characterization of one patient with CPT II deficiency and two patients with Carnitine palmitoyltransferase II (CPT II) reduction. Neuromuscular Disorders, 15(11), 782-788.
- OMIM entry on CPT2 gene deficiency. Retrieved from https://www.omim.org/entry/255110.
- Databases on genetic diseases, clinical testing and other resources related to the topic of CPT2 deficiency: enter Genetic Testing Registry (GTR) on “Carnitine palmitoyltransferase II deficiency”; enter GeneReviews summary on “Carnitine Palmitoyltransferase II Deficiency”; Carnitine Palmitoyltransferase II Deficiency in the Orphanet catalog of rare diseases.
- Additional scientific articles and related genes of interest: Myopathic features associated with the G1528C mutation in the CPT2 gene. Grant Support, N.I.H., Extramural; JAMA Neurology; Biochemical and clinical effects of two rare variants in the human gne encoding carnitine palmitoyltransferase II; Journal of Clinical Investigation.