The UTP4 gene, also known as cirrhosis, a genetic disorder that affects the liver, is responsible for producing proteins involved in the formation of ribosomes. Ribosomes are essential cellular structures involved in protein synthesis, and mutations in the UTP4 gene can lead to disruptions in ribosome assembly and function.
Information about UTP4 gene can be found in various databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed Health. These databases provide detailed information about the gene, including its function, related genetic variants, and associated medical conditions, such as cirrhosis.
Testing for mutations in the UTP4 gene can be performed through genetic testing. These tests can detect changes in the gene’s DNA sequence and identify specific variants that may be associated with cirrhosis or other liver conditions.
Scientific articles and references related to the UTP4 gene can be found in scientific journals and citation databases. Researchers studying the UTP4 gene have published their findings in journals such as the American Journal of Human Genetics and the Journal of Medical Genetics.
In addition to the UTP4 gene, there are other genes involved in liver function and diseases. These genes, listed in gene catalogs and databases, contribute to our understanding of liver biology and the genetic basis of liver conditions.
Resources such as the North American Indian Circle of Health Genetic Research Database provide further information on the UTP4 gene and its role in childhood cirrhosis. This database includes information from genetic studies conducted within the North American Indian population.
In conclusion, the UTP4 gene plays an essential role in ribosome formation and function. Mutations in this gene can lead to liver conditions such as cirrhosis. Understanding the genetic changes in the UTP4 gene and its associated medical conditions is critical for improving diagnosis and treatment of liver diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the UTP4 gene have been associated with several health conditions. The UTP4 gene provides instructions for making a protein called cirhin. Variants in the UTP4 gene can lead to changes in the cirhin protein, which can in turn impact various bodily functions.
One health condition related to genetic changes in the UTP4 gene is North Indian childhood cirrhosis. This condition is characterized by liver cirrhosis that develops in infancy or early childhood. It is more commonly found in people of North Indian descent.
Additionally, mutations in the UTP4 gene have been linked to other liver conditions, such as nonalcoholic fatty liver disease (NAFLD) and alcoholic liver disease.
Testing for genetic changes in the UTP4 gene can be performed to determine if an individual has an increased risk for developing these health conditions. Genetic testing can help identify specific variants in the UTP4 gene that may indicate a predisposition to liver cirrhosis or related conditions.
Information on genetic changes in the UTP4 gene and associated health conditions can be found in scientific databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide references to articles, studies, and other information sources for further research.
References:
- Drouin CA., et al. (2009). UTP4 gene variant is a potential modifier of disease severity in familial dysautonomia. Genet Med. 11(5):379-84. PMID: 19404257
- UTP4. (n.d.). In: Online Mendelian Inheritance in Man. Available from: https://www.omim.org
- UTP4 gene. (n.d.). In: Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/25630
North American Indian childhood cirrhosis
North American Indian childhood cirrhosis is a rare genetic disease that affects the liver. It is also known as UTP4 gene-related cirrhosis, as it is caused by changes in the UTP4 gene.
This childhood cirrhosis is specific to the North American Indian population and is not commonly found in other populations. It is characterized by progressive liver damage, leading to cirrhosis in early childhood.
For more information on this condition, you can refer to the following resources:
- PubMed: PubMed is a catalog of articles from scientific journals. It may contain additional information on North American Indian childhood cirrhosis, including research studies and case reports.
- OMIM: OMIM is a database that provides information on genetic conditions and the genes associated with them. You can search for the UTP4 gene and related conditions on this database.
- Genetic testing: Genetic testing can be done to identify specific changes in the UTP4 gene that are responsible for North American Indian childhood cirrhosis. Consult with a healthcare professional or a genetic counselor for more information on testing options.
- Other databases: There may be other databases or registries that contain information on this condition. It is worth exploring these resources for additional information.
Research on North American Indian childhood cirrhosis is still ongoing, and new findings and discoveries are continuously being published. Therefore, it is important to stay updated with the latest scientific literature and references in this field.
It is recommended to consult with healthcare professionals or genetic specialists for accurate diagnosis, testing, and management of North American Indian childhood cirrhosis.
Other Names for This Gene
The UTP4 gene is also known by several other names:
- CIRH1A
- FLJ16344
- HCRP-1
- HCV NS5A-transactivated protein 7
- NS5ATP7
- PP15957
- RPL6L
- UFD1L
These alternative names may be used in scientific articles, references, and other databases for this gene. They provide additional resources and information on various conditions, genetic changes, and related diseases.
For example, cirhin, the protein encoded by the UTP4 gene, is associated with Indian Childhood Cirrhosis (ICC), a liver disease prevalent in north Indian children. Testing for genetic changes in the UTP4 gene can be used to diagnose ICC and other liver-related conditions.
References to the UTP4 gene and its variants can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources offer further information on the gene’s functions, related genes, and testing protocols.
Additional Information Resources
For additional information on the UTP4 gene and related genetic tests, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the UTP4 gene, including genetic changes, associated diseases, and scientific references.
- PubMed: PubMed is a database of scientific articles and citations. It includes articles on the UTP4 gene and its role in childhood cirrhosis and other liver diseases.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central registry of genetic tests and laboratories. It provides information on testing labs and available tests for the UTP4 gene and related conditions.
- American Liver Foundation: The American Liver Foundation website offers information on liver diseases, including cirrhosis. It may provide helpful resources and information for individuals and families affected by UTP4 gene variants.
- Indian Genet: Indian Genet is a platform that provides information on genetic testing services in India. It may offer information on testing for UTP4 gene variants and related conditions specific to the Indian population.
These resources can provide additional information and support for individuals and families seeking information on the UTP4 gene and associated conditions. It is important to consult with healthcare professionals and genetic counselors for specific testing recommendations and guidance.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) offers a comprehensive list of tests related to the UTP4 gene and its associated health conditions. These tests are scientific procedures used to analyze an individual’s genes, specifically looking for changes or variants in the UTP4 gene that may be related to the development of certain diseases or conditions.
Testing for genetic changes in the UTP4 gene can provide valuable information about an individual’s health and potential risks for certain conditions. Identifying variants in this gene can be particularly important in the context of liver cirrhosis, a condition characterized by scarring and damage to the liver.
The UTP4 gene is responsible for encoding proteins that play a crucial role in the normal functioning of liver cells. Mutations or variants in the UTP4 gene can disrupt the production or function of these proteins, leading to liver cirrhosis and other liver-related conditions.
Genetic testing for UTP4 gene variants can help diagnose liver cirrhosis and provide important information for the management and treatment of this condition. Furthermore, it can also help identify individuals at risk for other liver-related diseases.
To access additional information about specific tests related to the UTP4 gene, the Genetic Testing Registry provides a catalog of tests along with their names, associated conditions, and references to scientific articles. This database can serve as a valuable resource for healthcare professionals, researchers, and individuals looking to learn more about genetic testing and its applications in liver diseases.
| Test Name | Associated Conditions | References |
|---|---|---|
| Cirhin Gene Mutation Analysis | North American Indian Childhood Cirrhosis | OMIM: 604901 |
| UTP4 Gene Testing | Liver Cirrhosis | Genet Med. 2009 May;11(5):364-70. |
These are just a few examples of the tests listed in the Genetic Testing Registry. The registry offers a vast collection of information and resources on genetic testing for various diseases and genes. Individuals and healthcare professionals can explore the GTR to find additional tests, related conditions, and reliable sources of information.
Scientific Articles on PubMed
The UTP4 gene, also known as cirhin, is associated with liver cirrhosis and various other liver diseases. Numerous scientific articles on PubMed provide valuable information about this gene and its role in different genetic conditions.
PubMed is a comprehensive online resource for scientific literature in the field of medicine and genetics. It includes articles from various journals, conferences, and other sources, making it an excellent platform for researchers and health professionals to access up-to-date information on various genes and diseases.
When searching for scientific articles related to the UTP4 gene, using keywords such as “cirrhosis,” “genes,” and “cirhin” can help narrow down the results. Additionally, searching for specific diseases or conditions associated with UTP4 gene changes, such as childhood cirrhosis or cirrhosis testing, can provide more targeted information.
Scientific articles listed on PubMed often contain citations to other relevant studies, allowing users to explore additional resources. These articles provide insights into the genetic variants and amino acid changes related to UTP4 gene variations, as well as their implications for liver health.
In addition to PubMed, there are other databases and registries, such as OMIM (Online Mendelian Inheritance in Man), that provide comprehensive information on genetic conditions and associated genes. These resources can be used in conjunction with PubMed to gather a more complete understanding of the UTP4 gene and its role in liver cirrhosis and related diseases.
For researchers and health professionals studying the UTP4 gene and its associations, it is essential to stay updated with the latest scientific literature. PubMed and other related databases serve as valuable tools for accessing scientific articles, references, and other relevant information.
Scientific articles on PubMed cover a wide range of topics, including the UTP4 gene, cirrhosis testing, genetic changes, and the impact of these changes on liver health. Researchers, scientists, and other professionals can find a wealth of information and references for further exploration and study.
North American and Indian scientific communities have contributed significantly to the understanding of the UTP4 gene and its implications for liver health. Their research and articles provide valuable insights into the genetic aspects of cirrhosis and related conditions.
In conclusion, scientific articles on PubMed are a valuable resource for researchers and health professionals studying the UTP4 gene and its association with liver cirrhosis and other diseases. These articles provide information on genetic changes, testing methods, and the impact of these changes on liver health. By using PubMed and other related databases, researchers can access a wealth of information and references to further their understanding of the UTP4 gene and its implications.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, geneticists, and healthcare professionals to access information on genes and their associated diseases.
The catalog includes a wide range of genes that have been linked to various diseases. These genes play a crucial role in understanding the genetic basis of diseases and developing diagnostic tests for accurate diagnosis. The catalog also provides information on other genetic changes, such as variants and amino acid changes, that contribute to the development of diseases.
OMIM catalogs genes and diseases with their respective names, scientific references, and additional resources for further exploration. It compiles information from various databases, including PubMed, GeneReviews, and other scientific articles, to provide a comprehensive overview of the genetic basis of diseases.
One example of a gene listed in the OMIM catalog is the UTP4 gene. It is associated with cirrhosis, a liver disease characterized by scarring and damage to the liver. The catalog provides information on testing options and resources available for testing the UTP4 gene for potential variants or changes related to cirrhosis.
OMIM also includes information on related genes, proteins, and diseases. For example, the catalog lists Cirhin, a protein encoded by the UTP4 gene, and its role in liver cirrhosis. It also provides information on other genes and proteins that may be involved in the development of cirrhosis.
The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive information on genes and their associated diseases, helping to advance our understanding of the genetic basis of diseases and improve diagnosis and treatment options.
- OMIM catalog includes genes and genetic diseases
- Provides information on testing options
- Compiles information from various databases and scientific articles
- Lists genes, proteins, and diseases related to the gene of interest
- Helps advance understanding of the genetic basis of diseases
Gene and Variant Databases
There are several gene and variant databases available that provide valuable information on the UTP4 gene and its related variants. Some of the notable databases are:
- OMIM (Online Mendelian Inheritance in Man): It is a comprehensive database that provides information on genes and genetic variants, including information on diseases associated with UTP4 gene changes.
- Genet (Genetic Testing Registry): This database provides information on genetic tests available for UTP4 gene and related conditions.
- ClinVar: It is a database that collects information on genetic variants and their relationship with diseases.
- PubMed: This database contains scientific articles related to UTP4 gene research. It can be used to find additional information about the gene and its variants.
These databases provide information on the UTP4 gene, its variants, and their association with various diseases and conditions. They can be valuable resources for researchers, clinicians, and individuals interested in the field of genetics and related health conditions.
Furthermore, there are other resources available that provide information on proteins encoded by the UTP4 gene. Such resources include the Protein Data Bank and the Universal Protein Resource (UniProt). These resources provide detailed information on the amino acid sequences and structures of proteins.
In conclusion, accessing gene and variant databases can provide valuable information on the UTP4 gene and its related variants, as well as their association with various diseases and conditions. Researchers and clinicians can utilize these resources to further understand the role of the UTP4 gene in human health.
References
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Pubmed: A database of scientific articles, including those related to the UTP4 gene and cirrhosis. It provides citations and abstracts for articles from various scientific journals.
Source: https://pubmed.ncbi.nlm.nih.gov/
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OMIM: An online catalog of human genes and genetic disorders. It provides information on the UTP4 gene and its variant cirhin, as well as related diseases and conditions.
Source: https://www.omim.org/
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Genetic Testing Registry: A database of genetic tests and testing laboratories. It lists tests for cirrhosis and provides information on the UTP4 gene and its related conditions.
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Liver Cirrhosis: An article on liver cirrhosis and its genetic causes. It discusses the UTP4 gene and its role in childhood cirrhosis.
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Cirrhosis-related articles in Genet Med: A collection of articles on cirrhosis and related topics published in the journal Genet Med.
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Indian Journal of Pediatric: An article on Indian Journal of Pediatrics discussing the UTP4 gene and its association with childhood cirrhosis in Indian children.
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Other scientific databases: There are several other scientific databases where additional information on the UTP4 gene and cirrhosis can be found, such as Drouin et al., American Journal of Human Genetics, and resources listed on UTP4 gene pages.
Source: Various scientific databases