The MKRN3 gene, also known as the makorin ring finger protein 3 gene, is a protein-coding gene that plays a crucial role in the development and regulation of puberty. It is located on chromosome 15 in humans and is thought to be primarily responsible for controlling the onset of puberty.
Scientists and researchers have extensively studied the MKRN3 gene and its associated proteins to gain a better understanding of the genetic changes and mutations that can lead to precocious puberty. Numerous articles and scientific resources, including the Pubmed database, provide valuable information on this gene and its role in puberty development.
Pubmed is a central repository of scientific articles and references, housing a vast catalog of information related to genes, proteins, and genetic changes. Researchers can access a variety of resources and databases to conduct tests and find additional information on related diseases and conditions caused by MKRN3 gene mutations.
In addition to Pubmed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for researchers studying the MKRN3 gene. OMIM provides a comprehensive listing of genetic changes, variant names, and associated conditions for this gene, helping researchers in their clinical testing and genetic analysis.
Overall, the MKRN3 gene is an important focus of scientific research and provides important insights into the genetic changes and mutations that affect puberty development. Through resources like Pubmed and OMIM, researchers can continue to improve our understanding of this gene and its critical role in human development.
Health Conditions Related to Genetic Changes
Genetic changes in the MKRN3 gene can lead to various health conditions. The MKRN3 gene provides instructions for making a protein that is involved in the control of puberty and reproductive development. Changes in this gene can disrupt the normal functioning of the protein, leading to the onset of certain conditions.
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One health condition related to genetic changes in the MKRN3 gene is precocious puberty. Precocious puberty is a condition where sexual development begins at an abnormally early age. It is thought that mutations in the MKRN3 gene can cause this condition by either reducing or eliminating the normal function of the MKRN3 protein, leading to the early activation of the hormonal pathways involved in puberty.
To identify genetic changes in the MKRN3 gene, genetic testing can be performed. Various tests are available to detect mutations or other changes in this gene. These tests can help diagnose individuals with health conditions related to MKRN3 gene changes and provide valuable information for healthcare professionals in managing these conditions.
Scientific articles, databases, and other resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry can provide additional information on the MKRN3 gene, its associated health conditions, and related testing options. Researchers and healthcare professionals can consult these resources to access the latest research and recommendations for diagnosing and managing diseases related to MKRN3 gene alterations.
References:
- PubMed: A database of scientific articles on different health conditions and genetic changes.
- OMIM: Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic disorders.
- Genetic Testing Registry: A resource that provides information on genetic tests and their clinical validity.
Central precocious puberty
This article provides information on central precocious puberty (CPP) and its relationship to the MKRN3 gene.
Central precocious puberty, also known as early puberty, is characterized by the premature development of secondary sexual characteristics before the age of 8 in girls and before the age of 9 in boys. It is caused by the early activation of the hypothalamic-pituitary-gonadal axis, resulting in the early release of sex hormones.
Several genetic mutations have been associated with central precocious puberty, including those in the MKRN3 gene. MKRN3 gene mutations have been found to be one of the causes of CPP. Additional information about this gene variant and its role in central precocious puberty can be found in various genetic resources and databases.
The MKRN3 gene is listed in the OMIM (Online Mendelian Inheritance in Man) database and is also mentioned in several scientific articles available on PubMed. Researchers studying central precocious puberty and related conditions often refer to the MKRN3 gene and its variants.
Testing for mutations in the MKRN3 gene can be done to confirm the diagnosis of central precocious puberty, and this gene is included in the testing panel of some genetic testing companies. The identification of MKRN3 gene mutations can provide valuable information for diagnosis and treatment options for individuals with central precocious puberty.
It is thought that changes in the MKRN3 gene may disrupt the normal regulation of puberty timing, leading to the early onset of puberty. Further research is needed to fully understand the role of the MKRN3 gene in the development of central precocious puberty and its related conditions.
In summary, central precocious puberty is a condition characterized by the early onset of puberty. The MKRN3 gene variant has been identified as one of the causes of this condition, and further research is ongoing to understand its role in puberty development. Testing for MKRN3 gene mutations can provide valuable information for diagnosis and treatment of central precocious puberty.
Other Names for This Gene
The MKRN3 gene is also known by several other names:
- Prader-Willi syndrome 5
- PWS5
- IB1194
- TESTICLE-SPECIFIC, Y-ENCODED-LIKE PROTEIN, YOME-1
These names were given to the gene based on its various functions and associations. For example, the gene is involved in the development and regulation of puberty, and mutations in the gene have been shown to cause precocious puberty in some individuals. The gene is also thought to play a role in other genetic conditions related to puberty and hormone regulation.
Researchers have identified several genetic changes in the MKRN3 gene that are associated with these conditions. These changes can be listed in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. Scientists and health professionals can use these resources to learn more about the gene and its related conditions, as well as to identify individuals who may benefit from genetic testing.
Additional information about the MKRN3 gene can be found in scientific articles and references available through PubMed, a central database of biomedical literature. PubMed contains a wealth of information on the gene, its protein products, and the diseases and health changes that can be caused by mutations in the gene.
| Gene | Conditions |
|---|---|
| Gene 1 | Condition 1 |
| Gene 2 | Condition 2 |
| Gene 3 | Condition 3 |
This table provides a list of related genes and conditions that are associated with the MKRN3 gene. These genes may have similar functions or be involved in similar biological pathways.
Additional Information Resources
For additional information on the MKRN3 gene, you can refer to the following resources:
1. Registries and Databases
- The Central Precocious Puberty Registry: This registry collects data on individuals with central precocious puberty caused by changes in the MKRN3 gene. It provides information on available tests and resources for patients and researchers.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic diseases. It includes detailed information on the MKRN3 gene and related conditions.
2. Scientific Articles and Publications
- PubMed: PubMed is a database of scientific articles in the field of medicine and related disciplines. Searching for “MKRN3 gene” in PubMed will retrieve relevant articles on the gene, its related genes, and their roles in the development of precocious puberty.
3. Genetic Testing and Mutation Databases
- The Genetic Testing Registry: This resource provides information on genetic tests for MKRN3 gene mutations and related conditions. It includes details on available tests, laboratories, and their contact information.
- The Protein and Gene Resources: This database provides comprehensive information on genes, proteins, and their associated diseases. It includes data on MKRN3 gene variants and their effects on protein function.
4. References and Related Genes
- References: The references section of scientific articles on the MKRN3 gene may contain additional information and sources for further exploration.
- Related Genes: There are other genes that are related to MKRN3 and may be involved in the regulation of puberty. Exploring these genes can provide a broader understanding of the underlying mechanisms.
These resources can be valuable references for researchers, healthcare professionals, and individuals seeking information on the MKRN3 gene and its association with precocious puberty.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in scientific research, enabling researchers to identify genetic variants and mutations that are associated with various diseases and conditions. The MKRN3 gene, for example, has been found to be related to precocious puberty, a condition in which puberty starts at an unusually early age. Many other genes and genetic changes have also been identified and are listed in the Genetic Testing Registry.
The Genetic Testing Registry is a central catalog of genetic tests and related information maintained by the National Institutes of Health. This registry provides a valuable resource for researchers, clinicians, and patients seeking information about genetic tests and associated conditions. Researchers can access information on the MKRN3 gene and other genes through this registry.
The Genetic Testing Registry provides a wealth of information that can help researchers and clinicians understand the genetic basis of various diseases and conditions. It includes references to scientific articles, databases, and other resources that are related to genetic testing. This information can be used to thoughtfully plan and conduct genetic testing studies, and to interpret the results of such tests.
The MKRN3 gene is just one of the many genes listed in the Genetic Testing Registry. This gene encodes for a protein that plays a critical role in the development and regulation of puberty. Mutations or changes in this gene can lead to the early onset of puberty, as seen in precocious puberty. Genetic testing for the MKRN3 gene can help identify individuals who may be at risk of developing this condition.
In addition to the MKRN3 gene, the Genetic Testing Registry lists many other genes and genetic changes that are associated with various diseases and conditions. Researchers and clinicians can use this information to explore the genetic basis of different conditions and to develop targeted therapies. The registry provides a comprehensive and up-to-date catalog of genetic tests, making it a valuable resource for the scientific community.
Overall, the Genetic Testing Registry serves as a centralized database of genetic tests and related information. It offers a wealth of resources that can aid researchers, clinicians, and patients in understanding the genetic basis of diseases and conditions. By providing easy access to information on genes, proteins, and associated conditions, the registry plays a crucial role in advancing scientific understanding and improving patient care.
Scientific Articles on PubMed
PubMed is a central database for scientific articles related to genes and genetic testing. Researchers can find a wealth of information on this platform, including articles on the MKRN3 gene and its related proteins.
The MKRN3 gene plays a crucial role in the development and regulation of puberty. Mutations in this gene can lead to early puberty, also known as precocious puberty. Many scientific articles on PubMed discuss the genetic testing and variant testing of MKRN3 to determine the presence of mutations or changes in this gene.
These scientific articles serve as valuable resources for researchers and healthcare professionals, providing important information on the MKRN3 gene and related proteins. In addition to the articles, PubMed also offers references to other genes and health conditions that may be related to MKRN3.
One of the key resources listed on PubMed is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on genetic diseases and conditions, including those caused by changes in the MKRN3 gene. Researchers can access this catalog to learn more about the genetic basis of precocious puberty and other related diseases.
Overall, PubMed is an essential platform for researchers and healthcare professionals looking for scientific articles on the MKRN3 gene and its related proteins. The information available on this platform can greatly contribute to our understanding of the genetic basis of various diseases and conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides information on the genes and proteins involved in various diseases and their associated clinical features. Researchers and healthcare professionals can access OMIM to find references, articles, and additional resources related to genetic conditions.
The catalog lists genes and diseases alphabetically, making it easy to search for specific genes or conditions. Each gene and disease entry includes names, aliases, and references to scientific articles from PubMed.
For example, the MKRN3 gene is listed in OMIM as the cause of precocious puberty, a condition in which puberty starts at an abnormally early age. The entry for MKRN3 provides information on the genetic changes associated with precocious puberty, as well as references to studies and articles that have explored this gene and its role in the development of puberty.
In addition to gene-related information, OMIM also provides information on related proteins, genetic tests, and other resources for researchers and healthcare professionals. The catalog serves as a central repository of knowledge on genetic conditions and is a valuable resource for studying and understanding various diseases.
OMIM is continuously updated, and new genes, mutations, and diseases are regularly added to the catalog. Researchers can contribute to the database by submitting data on newly discovered genes and mutations, thereby ensuring that OMIM remains a comprehensive and up-to-date resource for the scientific community.
In conclusion, the catalog of genes and diseases from OMIM provides a wealth of information on genetic conditions and the genes involved. It is a valuable resource for researchers, healthcare professionals, and anyone interested in understanding the underlying genetic factors contributing to various diseases.
Gene and Variant Databases
This article discusses the importance of gene and variant databases in providing information about genetic changes related to the MKRN3 gene. These databases serve as central repositories of scientific information on genes and their associated variants.
Genes are regions of DNA that contain the instructions for the development and functioning of living organisms. They play a crucial role in various biological processes including puberty. The MKRN3 gene, in particular, is involved in the regulation of puberty onset.
Gene and variant databases provide researchers and healthcare professionals with a comprehensive catalog of information on genes, variants, and related conditions. This information is essential for genetic testing and research on MKRN3 gene related disorders and conditions.
These databases list the genetic changes, mutations, and protein-coding changes associated with the MKRN3 gene. They also include references to scientific articles, studies, and resources that provide additional information on the gene and its associated conditions.
Researchers can use these databases to access information on other genes related to MKRN3 and their functions. By studying these genes, scientists can gain a better understanding of the biological processes involved in puberty and related disorders.
One of the prominent databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on genetic disorders caused by mutations in the MKRN3 gene.
Another important resource is PubMed, a database of scientific articles. Researchers can search for articles related to the MKRN3 gene and its associated conditions to stay updated with the latest research in the field.
In summary, gene and variant databases play a crucial role in providing information on genetic changes, variants, and associated conditions related to the MKRN3 gene. These databases serve as central repositories of scientific information and resources for researchers and healthcare professionals in the field of genetic testing and research.
References
- The National Center for Biotechnology Information Pubmed database is an essential resource for finding scientific articles related to the MKRN3 gene. Researchers can find information on genetic changes, mutations, diseases caused by variants in the MKRN3 gene, and other related research. The database can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
- The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genes, genetic conditions, and associated phenotypes. It includes information on MKRN3 gene mutations and their effects on development and puberty. The OMIM database can be accessed at https://omim.org/.
- The Genetic Testing Registry (GTR) is a central resource for information on genetic tests and their availability. It includes information on tests related to the MKRN3 gene and associated proteins, providing helpful resources for researchers and health professionals. The GTR database can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.
- Additional scientific articles and resources can be found through related databases and publications. These include databases like GeneCards (https://www.genecards.org/), which provides comprehensive information on genes and proteins, and the Protein Data Bank (https://www.rcsb.org/pdb/home/home.do), which facilitates the study of protein structures and functions.