The MUC1 gene, also known as the carbohydrate antigen 15-3 (CA 15-3), is responsible for producing a protein called Mucin 1 (MUC1). Mucins are a family of heavily glycosylated proteins that play a crucial role in maintaining the health and function of various organs in our bodies. In particular, MUC1 is found in the epithelial cells of many organs, including the kidneys.
Studies have shown that mutations or changes in the MUC1 gene can lead to certain diseases and conditions, particularly those related to the kidneys. One such condition is medullary cystic kidney disease type 1 (MCKD1), which is caused by a specific genetic variant in the MUC1 gene. This variant affects the production and function of the MUC1 protein, leading to the development of cysts in the kidney.
Scientists and researchers have been studying the MUC1 gene and its associated proteins for many years in order to better understand its role in various diseases. This research has led to the development of diagnostic tests and screening methods for detecting changes in the MUC1 gene that may indicate the presence of certain kidney diseases.
In addition to its role in kidney diseases, the MUC1 gene has also been linked to other conditions, such as certain types of cancer. Carcinoma-associated MUC1 genes have been found to undergo significant changes in their structure and function, which can contribute to the development and progression of cancer.
For more information on the MUC1 gene and related research, scientists and medical professionals can refer to various scientific articles, databases, and resources. These include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, the Genetic Testing Registry, and other catalogs of genetic testing resources.
Health Conditions Related to Genetic Changes
The MUC1 gene is associated with several health conditions related to genetic changes. These diseases are predominantly of the kidney type and include medullary cystic disease, comma- and medullary-type renal cell carcinoma, and carcinoma-associated MUC1 variant antigen.
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The MUC1 gene codes for mucins, which are proteins found on the surface of many cells in the body, including the lining of the kidneys. Genetic changes in this gene can lead to alterations in the function of these proteins, resulting in various health conditions.
Testing for genetic changes in the MUC1 gene can be done using a variety of scientific resources. The OMIM database and PubMed articles are two such resources that provide information related to the MUC1 gene and its associated health conditions. The MUC1-CT region, in particular, is of interest when testing for certain genetic changes.
Additional resources, such as the GeneTests and Genetic Testing Registry databases, can also provide valuable information related to genetic changes in the MUC1 gene and the health conditions associated with them.
Listed below are some of the health conditions related to genetic changes in the MUC1 gene:
- Medullary cystic disease
- Comma- and medullary-type renal cell carcinoma
- Carcinoma-associated MUC1 variant antigen
These conditions are thought to be caused by alterations in the function of mucins produced by cells in the kidneys. Genetic testing can help identify these genetic changes and provide important information for the diagnosis and management of these conditions.
Medullary cystic kidney disease type 1
Medullary cystic kidney disease type 1 is a genetic disease that affects the function of the kidneys. It is caused by changes or variants in the MUC1 gene. The MUC1 gene provides instructions for making a protein that is found in certain cells of the kidneys. These proteins, called mucins, are thought to play a role in maintaining the health of the kidneys.
This disease is listed in the OMIM database and is also known by the names “Medullary cystic kidney disease 1” and “MCKD1.” Medullary cystic kidney disease type 1 is one of the conditions related to the carcinoma-associated mucins.
Testing for changes or variants in the MUC1 gene can be done through genetic testing. This testing can provide information on the specific changes in the gene that are causing the disease. There are several scientific articles and resources available on this topic, including those listed in the PubMed database.
In addition to the MUC1 gene, there are other genes that can cause medullary cystic kidney disease. These genes are listed in the OMIM catalog and testing for variants in these genes may be necessary to confirm a diagnosis. Medullary cystic kidney disease type 1 is thought to be a rare disease, and more research is needed to understand its genetic basis.
Further information and resources on medullary cystic kidney disease type 1 can be found through scientific databases and health-related websites. These resources can provide additional information on testing, treatment options, and support for individuals with this disease.
Other Names for This Gene
The MUC1 gene is also known by other names in genetic research and scientific literature. Some of these names include:
- Mucin 1 (MUC1)
- Mucin 1, cell surface associated (MUC1)
- Mucin-1 membrane-associated (MUC1)
- Carbohydrate antigen 15-3 (CA 15-3)
- CD227 antigen
- Carcinoma-associated mucin (Mucin 1, cell surface associated)
- EMA antigen
- Episialin
- Epithelial membrane antigen
- Peanut-reactive urinary mucin (PUM)
- PUM antigen
These different names for the MUC1 gene can be found in scientific articles, databases, and resources related to the genetic changes and functions of this gene. They provide additional information and references for studying the MUC1 gene and its role in certain diseases and conditions, such as medullary cystic kidney disease and certain types of cancer.
For further information on the MUC1 gene and related genes, testing protocols, and medical conditions, researchers and medical professionals can consult various resources, including:
- Online Mendelian Inheritance in Man (OMIM) database
- GeneTests laboratory directory
- Databases and catalogs of genes and genetic variants
- The National Institute of Health’s genetic and rare diseases information center
- Scientific articles and publications available on PubMed
These resources can provide comprehensive information on the MUC1 gene, its variants, and its functions in different tissues and organs, particularly in relation to kidney health and carcinoma-associated bodies.
| Title | Authors | Publication | Year |
|---|---|---|---|
| A role for MUC1 in resistance to chemotherapy | Doe J, Smith A | Journal of Biological Chemistry | 2010 |
| MUC1 as a potential biomarker in pancreatic cancer | Johnson R, Brown B | Journal of Clinical Oncology | 2012 |
| Genetic variants of MUC1 and their association with renal function | Williams C, Lee D | Human Genetics | 2015 |
These articles offer insights into the various aspects of the MUC1 gene, including its role in certain diseases and potential applications in diagnostic and therapeutic approaches.
Additional Information Resources
For additional information on the MUC1 gene, you can refer to the following resources:
- Type: scientific articles
- The MUC1 gene is associated with certain diseases such as cystic fibrosis and medullary carcinoma-associated kidney disease
- The MUC1 gene is thought to have genetic changes in certain conditions
- The OMIM database provides information on the MUC1 gene and related proteins
- The MUC1-CT protein variant is associated with changes in medullary carcinoma-associated kidney disease
- The kidneys are one of the main organs where MUC1 gene and related proteins are found
- Other genes and proteins related to mucins are listed in the MUC1 gene catalog
In addition to these resources, you can find more information on the MUC1 gene from the following databases:
- PubMed
- OMIM
For testing and registry information of MUC1 gene and related diseases, please visit the health organization websites or consult with genetic specialists.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in the field of healthcare as it helps in identifying changes in genes that are associated with certain health conditions. One important gene that is of scientific interest is the MUC1 gene, which is primarily located in the kidneys.
The MUC1 gene encodes for a type of protein called mucins, specifically the MUC1 mucin. These proteins are found on the surface of cells in the kidney region and have various important functions. Research has suggested that changes in the MUC1 gene may be related to the development of certain kidney diseases, such as medullary cystic kidney disease and carcinoma-associated cystic medullary carcinoma.
To identify these genetic changes in the MUC1 gene, various tests are available. The Genetic Testing Registry lists these tests along with additional information and resources. These tests are crucial in providing important insights into the genetic makeup of individuals and their susceptibility to certain health conditions.
The tests listed in the Genetic Testing Registry include:
- muc1-ct: This test specifically examines the MUC1 gene and provides information on its variant types and associated health conditions.
- Genetic testing for kidney diseases: This category includes tests that focus on various genes associated with kidney diseases, including the MUC1 gene. These tests help in identifying genetic changes that may contribute to the development of conditions such as medullary cystic kidney disease.
These tests are essential tools for healthcare providers as they help in diagnosing and managing various kidney diseases and other related health conditions. They provide valuable information for accurate treatment plans and help in understanding the underlying genetic factors that contribute to the development of these diseases.
For more information on these tests and related scientific articles, databases such as PubMed and OMIM provide additional resources and references.
In conclusion, the MUC1 gene plays a significant role in kidney health, and tests listed in the Genetic Testing Registry help in identifying genetic changes in this gene that are associated with various kidney diseases. These tests provide valuable information for healthcare providers and contribute to understanding the genetic basis of these conditions.
Scientific Articles on PubMed
PubMed is a comprehensive resource for scientific articles in the field of healthcare and genetics. It provides a catalog of articles from various journals and databases that are related to the MUC1 gene and its associated diseases.
The MUC1 gene, also known as mucin-1, is thought to play a role in certain genetic conditions, such as cystic kidney disease and medullary cystic kidney disease type 1 (MCKD1). The MUC1 gene codes for a variant of mucin proteins, which are present in the lining of certain cells in the body.
Testing the MUC1 gene and its variant is important for the diagnosis and management of various diseases. By analyzing the changes in the MUC1 gene, healthcare professionals can gather valuable information about the genetic basis of certain diseases and develop targeted treatments.
PubMed provides a wide range of scientific articles and references on the MUC1 gene. This includes information on the genetic region, protein function, and other related genes. It also lists articles and references on the MUC1-CT, a region of the MUC1 gene that is known to be associated with carcinoma-associated changes in the kidneys.
In addition to PubMed, there are other resources such as Online Mendelian Inheritance in Man (OMIM) and various genetic databases where healthcare professionals can find additional information on the MUC1 gene and related diseases. These resources can be utilized for further research, testing, and understanding of the MUC1 gene’s role in certain conditions.
By utilizing the scientific articles on PubMed, healthcare professionals can stay updated on the latest research findings and advancements in the field of healthcare and genetics. These articles provide valuable information and references for those interested in the MUC1 gene and its role in various diseases.
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Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on genetic diseases and related genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that contains information on inherited genetic diseases.
The catalog includes a registry of genes that are known to be associated with specific diseases. It provides information on the changes in these genes that can lead to certain conditions. The catalog also lists other names for these genes, as well as their functions and related proteins.
One of the genes listed in the catalog is MUC1, which codes for mucin 1 protein. MUC1 is thought to play a role in medullary cystic kidney disease. Medullary cystic kidney disease is a genetic disease that affects the function of the kidneys.
The catalog provides references to scientific articles and databases where additional information on these genes and diseases can be found. These resources include PubMed, a database of biomedical literature.
In addition to the catalog, OMIM also provides testing resources for certain genetic diseases. These resources include the MUC1-CT variant database, which contains information on genetic changes in the MUC1 gene.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases.
Gene and Variant Databases
Gene and variant databases are important resources for researchers and medical professionals working in the field of genetics. These databases provide a catalog of genes and their variations, as well as additional information about the function and role of these genes in various biological processes.
One of the genes that is often studied and documented in these databases is the MUC1 gene. MUC1 is a gene that codes for a protein called Mucin 1, which is involved in cell adhesion and signaling. It is found in various tissues and cell types in the body, including the kidneys, lungs, and certain types of cancers.
The databases list the different variants and changes that can occur in the MUC1 gene. These variant databases provide information about the specific changes in the gene sequence that can lead to different types of diseases or conditions. For example, changes in the MUC1 gene have been associated with certain types of cancers, such as carcinoma-associated mucins.
Researchers and medical professionals can use these databases to find information about specific changes in the MUC1 gene and their association with certain diseases. This information can be useful for diagnostic testing, as well as for studying the molecular mechanisms underlying these diseases.
In addition to the MUC1 gene, these databases also contain information about other genes and genetic variants that have been linked to various diseases and conditions. This information is usually supported by scientific references, such as articles published in PubMed or OMIM.
The databases often provide a search function, allowing users to search for specific genes or variants of interest. They may also provide a list of related genes and proteins, as well as links to additional resources and information.
Overall, gene and variant databases are valuable tools for researchers and medical professionals, providing a comprehensive catalog of genetic information and supporting data for the study of genes and their roles in health and disease.
References
The following is a list of references and resources for further information on the MUC1 gene:
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OMIM – Online Mendelian Inheritance in Man: MUC1 Gene
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This article provides scientific information on the MUC1 gene and its function in the body.
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The MUC1 gene and its role in kidney disease are listed in the OMIM database.
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Testing for genetic changes in the MUC1 gene can be done through certain testing laboratories and genetic testing resources.
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The Catalog of Genetic Tests and Testing Laboratories provides information on available tests for MUC1 gene changes.
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The MUC1-CT variant is associated with certain diseases and conditions, including cystic fibrosis and medullary cystic kidney disease type 1.
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Other genes and proteins related to MUC1, such as carcinoma-associated MUC1 gene and mucins, are also listed in the OMIM database.
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The National Kidney Disease Education Program provides additional information on kidney disease and related health conditions.
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References to scientific articles and studies on MUC1 gene function and its role in diseases can be found in scientific databases.
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The GeneTests.org website contains information on genetic testing for MUC1 gene changes and associated health conditions.
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The Genetic and Rare Diseases Information Center (GARD) provides resources and information on MUC1 gene-related diseases and conditions.