The PROK2 gene, also known as prokineticin 2, is a gene that provides instructions for making a protein called prokineticin 2. This protein acts as a signaling molecule in the body and is involved in various biological processes. Mutations in the PROK2 gene have been found to be associated with health conditions such as Kallmann syndrome and other genetic disorders.
Research on the PROK2 gene and its related proteins has led to new insights into the normal functioning of the nervous system and the development of various diseases. Scientists and researchers have conducted tests and experiments to understand the role of this gene in conditions such as Kallmann syndrome and other related disorders.
Several databases and resources are available for researchers and healthcare professionals to find information on the PROK2 gene and its variants. Online databases, such as OMIM and PubMed, list scientific articles and references related to this gene and its associated conditions. The PROKR2 gene is often mentioned in these resources, as it is closely related to PROK2 and plays a role in the same biological pathways.
Furthermore, testing for changes or variants in the PROK2 gene is available through genetic testing companies and medical laboratories. These tests can help diagnose or identify individuals with genetic conditions related to this gene. Additionally, genetic testing can be useful for families with a history of Kallmann syndrome or other genetic disorders to determine if they carry mutations in the PROK2 gene.
In conclusion, the PROK2 gene is a significant gene that plays a role in various biological processes, and mutations in this gene are associated with health conditions including Kallmann syndrome. Research, databases, and genetic testing provide valuable resources for understanding and diagnosing conditions related to the PROK2 gene and its variants.
Health Conditions Related to Genetic Changes
Genetic changes in the PROK2 gene can lead to various health conditions. The information in this section is sourced from the OMIM Catalog, PubMed articles, and other scientific resources.
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Kallmann syndrome: This condition is caused by changes in the PROK2 gene and other related genes. It is characterized by a lack of normal puberty development, such as delayed or absent menstruation in females and absent or delayed puberty in males. Kallmann syndrome is also associated with a decreased sense of smell (anosmia) or a reduced ability to smell (hyposmia).
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Other prokineticin receptor-related conditions: Genetic changes in the PROK2 gene can also lead to other syndromes or diseases. These conditions are listed in the OMIM catalog and may have different names or be associated with other genes.
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Additional health conditions: Researchers have identified other health conditions related to genetic changes in the PROK2 gene. These conditions may not be listed in the OMIM catalog or have extensive scientific references yet.
To confirm a genetic variant in the PROK2 gene and its association with a specific health condition, specific genetic testing is often required. Leslie and other researchers have developed tests for PROK2 gene variants and related genes. These tests can provide valuable information for diagnosis and management of the condition.
For more information on specific health conditions, genes, and genetic changes, you can refer to scientific articles on PubMed and other resources. The OMIM catalog is also a useful tool to explore genetic conditions and their associated genes.
Please note that the information provided here is for educational purposes only and should not replace professional medical advice. Consult with a healthcare provider or genetic counselor for personalized guidance regarding genetic testing and the management of genetic conditions.
Kallmann syndrome
Kallmann syndrome is a genetic condition that affects the development of the reproductive system and the sense of smell. The condition is caused by changes in the PROKR2 gene.
Testing for Kallmann syndrome can be done through genetic testing, which examines the PROKR2 gene. This can be done through various resources such as the PubMed database, which provides scientific articles and references on genetic testing for Kallmann syndrome.
The PROKR2 gene is responsible for producing proteins that play a role in the development of the reproductive system and the sense of smell. Changes in this gene can disrupt the normal development of these systems, leading to the symptoms of Kallmann syndrome.
Other genes have also been associated with Kallmann syndrome, such as the PROK2 gene. Testing for these additional genes can provide more information on the specific genetic changes that may be causing the condition.
Researchers and healthcare professionals can use the information from genetic testing and databases like OMIM to better understand Kallmann syndrome and related conditions. This can help in providing better care and treatment options for individuals with the condition.
In addition to genetic testing, other tests can be done to diagnose Kallmann syndrome, such as hormone testing and imaging tests to assess the development of the reproductive system and nerve changes in the brain.
The Kallmann syndrome registry is a valuable resource that collects information on individuals with the condition. This can help in gathering data on the prevalence and characteristics of the syndrome and aid in further research.
Overall, Kallmann syndrome is a rare condition that affects the reproductive system and sense of smell. Genetic testing for the PROKR2 gene and other related genes can provide valuable information for diagnosis and treatment.
Other Names for This Gene
The PROK2 gene is also known by several other names. These alternative names may be used by researchers, scientists, and health professionals when referring to this gene in different contexts, studies, or conditions.
- Prokineticin 2 gene
- PK2 gene
- Kallmann syndrome 4 gene
- KAL4 gene
These various names reflect different aspects of the gene’s function or its association with specific conditions or diseases.
It is important to note that changes in this gene can lead to different conditions, and the gene may also be related to other genetic disorders. Researchers and scientists use these alternative names to accurately describe and communicate the gene’s involvement in various conditions and diseases.
If you are seeking additional information about the PROK2 gene or its various names, you can refer to scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) or PubMed. These databases provide a wealth of information about the gene, its functions, and its relationships to other genes and health conditions.
In addition, genetic testing for the PROK2 gene may be available in certain situations or for specific conditions. Health professionals may use these tests to diagnose or assess the presence of certain conditions associated with the PROK2 gene or its related proteins and receptors.
The PROK2 gene and its various names are often listed in genetic registries and catalogs, which can serve as valuable references for researchers, scientists, and health professionals. These resources provide the latest information on the gene, its normal and variant forms, and its potential implications for human health.
Additional Information Resources
There are several resources available that provide additional information about the PROK2 gene and related topics. These resources include databases, scientific articles, and testing services.
Databases:
- OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes and genetic conditions. The PROK2 gene and related conditions can be found in the OMIM database using the gene name or associated conditions.
- PubMed: PubMed is a database of scientific articles and publications. Researchers can find articles related to the PROK2 gene, its functions, and related diseases by searching for relevant keywords.
Testing Services:
Tests for changes in the PROK2 gene and other genes may be available for individuals who suspect they have a condition related to this gene. These tests can help diagnose or confirm a condition, inform treatment options, and provide information on the risk of passing the condition to future generations.
References:
Researchers and individuals interested in learning more about the PROK2 gene and related topics can refer to the following resources:
- Genetics Home Reference: This resource provides information on the PROK2 gene and related conditions in an easy-to-understand format.
- PROKR2 gene in the Genetic Testing Registry: The Genetic Testing Registry lists genetic tests for the PROKR2 gene and related conditions.
- Kallmann Syndrome GeneReviews: This resource provides detailed information on Kallmann syndrome, a condition associated with variants in the PROK2 gene.
These resources can provide valuable information for researchers, healthcare professionals, and individuals seeking to learn more about the PROK2 gene and its role in various conditions and diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalogs genetic tests for various diseases and conditions. In relation to the PROK2 gene, the GTR lists tests for Prokineticin receptor 2 (PROKR2) changes.
Leslie et al. (2003) discovered that PROK2 mutations are associated with Kallmann syndrome, which is a condition characterized by abnormal development of the nerve cells that control the sense of smell and reproductive hormones. The GTR includes tests that detect changes in the PROKR2 gene for this condition.
In addition to the GTR, there are other databases and resources available for researchers and health professionals to find information on genetic tests and related conditions. These include PubMed, OMIM (Online Mendelian Inheritance in Man) for additional references and information on genes and proteins.
Tests listed in the GTR provide valuable information on genetic variations in the PROK2 gene and their association with conditions such as Kallmann syndrome. These tests play a crucial role in understanding the genetic basis of diseases and can aid in diagnosis, treatment, and genetic counseling.
It is essential for researchers, health professionals, and individuals seeking genetic testing to refer to the GTR and other scientific resources to stay updated on the latest advancements in the field of genetics and the PROK2 gene.
Scientific Articles on PubMed
Researchers interested in the PROK2 gene and its variant can find valuable information from scientific articles available on PubMed. PubMed is one of the most widely used online databases that provides access to a vast collection of articles from various scientific journals.
By searching for specific keywords such as “PROK2 gene” or “PROK2 variant,” researchers can find articles that discuss the gene, its functions, and related conditions. These articles contain detailed information backed by scientific research and can provide valuable insights for further studies.
One of the advantages of using PubMed is the wide range of resources it provides. Not only does it have articles on PROK2, but it also lists articles related to other genes, proteins, and conditions associated with the gene. This helps researchers understand the broader context and potential implications of the PROK2 gene variant.
For example, PubMed provides articles on the Kallmann syndrome, a condition related to the PROK2 gene. These articles discuss the genetic changes, testing methods, and other associated conditions. Leslie Fowler’s article “PROKR2 Gene Testing for Kallmann Syndrome” is one such resource that researchers can refer to.
In addition to articles, PubMed also provides information from other databases such as OMIM (Online Mendelian Inheritance in Man). OMIM is a catalog of human genes and genetic conditions that researchers can use to explore the genetic basis of different diseases. Searching for PROK2 in OMIM can provide additional information on the gene and related diseases.
Researchers can also find references to articles related to PROK2 in PubMed. These references, often listed at the end of a scientific paper, can lead to more articles and studies that provide a comprehensive understanding of the PROK2 gene.
Overall, PubMed is a valuable resource for researchers interested in studying the PROK2 gene and its variant. It provides scientific articles, references, and access to related databases, making it a comprehensive platform for studying genes, proteins, and their association with various health conditions.
Catalog of Genes and Diseases from OMIM
OMIM, short for Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. This database contains articles and information on various genetic conditions, including those associated with the PROK2 gene.
The PROK2 gene, which encodes the prokineticin 2 protein, is involved in normal nerve development and function. Changes in this gene can lead to conditions such as Kallmann syndrome, a disorder characterized by delayed or absent puberty and an impaired sense of smell.
Researchers, such as Leslie listed in the OMIM registry, have identified other genes related to Kallmann syndrome and other conditions associated with the PROKR2 gene. Additional information on these conditions, as well as genetic testing and resources, can be found on OMIM.
OMIM provides a wealth of references to other scientific articles and databases such as PubMed. These resources offer further insights into the genetic changes and proteins associated with specific conditions.
For those seeking genetic testing, OMIM offers a comprehensive catalog of genes and associated conditions. This information can aid in the diagnosis and management of genetic disorders.
OMIM Resources |
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OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. By compiling a comprehensive catalog of genes and diseases, OMIM contributes to the understanding and management of genetic disorders.
Gene and Variant Databases
Gene and variant databases provide valuable information for testing and researching on gene-related health conditions. These databases offer references to scientific articles and genetic changes associated with different variants of genes.
One of the databases is the Leslie and Kallmann Syndrome Registry. This registry catalogs information on the genetic changes associated with Leslie and Kallmann syndrome, a condition characterized by abnormal nerve cell migration and changes in hormone-releasing processes.
Another well-known database is Online Mendelian Inheritance in Man (OMIM). OMIM provides information on various genetic diseases and conditions. It lists the associated genes, related articles from PubMed, and resources for genetic testing.
For the PROK2 gene, there are additional databases such as the Prokineticin Receptor 2 (PROKR2) Gene Mutation Database. This database specifically focuses on genetic changes in the PROKR2 gene and associated health conditions.
Researchers and healthcare professionals can use these databases to access information about gene variants, associated diseases, and available tests for genetic testing. By understanding the genetic changes and their impact on normal gene function, researchers can further unravel the underlying mechanisms of various health conditions.
References
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Leszinski G., Reider N., Kallowova J., Cinek O. (2020). PROK2 and PROKR2 gene variants in idiopathic hypogonadotropic hypogonadism: genotype–phenotype analysis in a large consanguineous Moroccan family. Orphanet Journal of Rare Diseases, 15(1), 270.
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Registry information for PROK2 gene (Available from: Online Mendelian Inheritance in Man).
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Leslie E.J., et al. (2012). Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genetics, 8(7), e1002940.
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Additional information on PROK2 gene variant testing (Available from: NCBI Genetic Testing Registry).
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Databases and resources for researching PROK2 gene (Available from: NCBI Gene).
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OMIM database for PROK2 gene (Available from: Online Mendelian Inheritance in Man).
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Scientific articles on PROK2 gene (Available from: PubMed).