The GALNT3 gene, also known as GALNAC-T3, encodes a protein that plays a crucial role in the post-translational modification of proteins. This gene is primarily expressed in the kidneys and helps maintain the reabsorption of calcium and phosphate in the body.
Research has found that mutations in the GALNT3 gene are associated with familial tumoral calcinosis, a rare genetic disease characterized by abnormal deposits of calcium phosphate in soft tissues. These mutations can lead to changes in the protein function, resulting in the inability to properly regulate calcium and phosphate levels.
Testing for GALNT3 gene mutations can be done through various methods, such as genetic sequencing and analysis. The OMIM database, as well as other scientific resources like PubMed, provide additional information and references about the gene and its related conditions.
Understanding the role of the GALNT3 gene is crucial for effectively diagnosing and managing conditions related to calcium and phosphate regulation. Research and genetic testing can help identify individuals with mutations in this gene, allowing for early intervention and treatment.
Overall, the GALNT3 gene plays a significant role in maintaining the balance of calcium and phosphate levels in the body. Further research and genetic studies are necessary to fully comprehend its function and potential implications for human health.
Health Conditions Related to Genetic Changes
Genetic changes in the GALNT3 gene have been associated with several health conditions. These changes can affect the function of the protein encoded by the gene, leading to various diseases and conditions.
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One of the conditions related to genetic changes in the GALNT3 gene is familial tumoral calcinosis (FTC). FTC is a rare genetic disorder characterized by the deposition of calcium in soft tissues, such as the skin and subcutaneous tissue. Genetic testing can help confirm the presence of GALNT3 gene changes in individuals with FTC.
Another condition associated with GALNT3 gene changes is hyperphosphatemic familial tumoral calcinosis (HFTC). HFTC is a subtype of familial tumoral calcinosis that involves excessive reabsorption of calcium and phosphate by the kidneys. This condition can result in the formation of calcifications throughout the body, including the joints and soft tissues.
Gene databases such as OMIM and PubMed provide additional information on the genetic changes and related health conditions associated with GALNT3. These resources can be helpful in understanding the impact of GALNT3 gene changes on health.
Scientific articles listed in PubMed can provide more information on specific health conditions and the role of GALNT3 gene changes in these conditions. These articles can be a valuable source of information for researchers and healthcare professionals.
Furthermore, the GALNT3 gene is also known by other gene names, such as GALNT-3 and PP110. These alternative names can be used to search for related information in scientific literature and databases.
In summary, genetic changes in the GALNT3 gene can lead to various health conditions, including familial tumoral calcinosis and hyperphosphatemic familial tumoral calcinosis. Resources such as OMIM, PubMed, and gene databases provide information on these conditions and help maintain a catalog of genetic changes found in GALNT3. Further research and testing are necessary to fully understand the impact of GALNT3 gene changes on health and develop targeted treatments for related diseases.
Hyperphosphatemic familial tumoral calcinosis
Hyperphosphatemic familial tumoral calcinosis is a genetic condition that plays a role in the abnormal accumulation of calcium deposits in the body tissues. It is caused by changes (variants) in the GALNT3 gene.
The GALNT3 gene provides instructions for making a protein called polypeptide N-acetylgalactosaminyltransferase 3. This protein is involved in the addition of sugar molecules to other proteins, a process known as glycosylation. Glycosylation is important for protein function and regulation.
In hyperphosphatemic familial tumoral calcinosis, certain changes in the GALNT3 gene impair the ability of the protein to function properly. As a result, calcium and phosphate are not reabsorbed properly in the kidneys, leading to high levels of these minerals in the blood. This excess calcium and phosphate can then accumulate in soft tissues, such as the skin, joints, and blood vessels, causing the formation of calcified masses or tumors.
Hyperphosphatemic familial tumoral calcinosis is listed as a genetic condition in various scientific resources, including the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR). These databases provide information on genes, genetic conditions, and genetic tests.
Other related conditions involving changes in the GALNT3 gene include familial tumoral calcinosis and normophosphatemic familial tumoral calcinosis.
References:
- Chefetz I, et al. (2008). A Mutation in GALNT3, Encoding a Protein Involved in O-Linked Glycosylation, Is Associated with Familial Tumoral Calcinosis.
- OMIM entry on Hyperphosphatemic familial tumoral calcinosis.
- PUBMED article on Hyperphosphatemic Familial Tumoral Calcinosis.
Other Names for This Gene
This genetic information can be found under other names, including:
- Hyperphosphatemic familial tumoral calcinosis 2 (HFTC2)
- Imel-Nelson syndrome (IMEL)
References of testing for changes in the GALNT3 gene can be found in scientific articles on calcium reabsorption genes. The GALNT3 protein, which is encoded by this gene, plays a role in the maintenance of calcium levels in the body.
The Fibroblast Growth Factor 23 (FGF23) gene, also related to familial tumoral calcinosis, helps regulate calcium and phosphate levels in the body. When changes occur in these genes, conditions such as hyperphosphatemic familial tumoral calcinosis and Imel-Nelson syndrome may develop.
Additional genetic information and resources can be found in the Online Mendelian Inheritance in Man (OMIM) and PubMed databases.
| Gene | Condition |
|---|---|
| GALNT3 | Hyperphosphatemic familial tumoral calcinosis 2 (HFTC2) |
It is important to note that other genes may also be listed in these databases, as they are often related to the same conditions.
Additional Information Resources
- OMIM (Online Mendelian Inheritance in Man) provides information on the GALNT3 gene and its protein. OMIM includes information on the changes found in this gene, as well as other related genes and their functions.
- Pubmed is a database that contains scientific articles and references on the GALNT3 gene. It provides information on the role of this gene in various conditions, including familial hyperphosphatemic tumoral calcinosis and other related diseases.
- Calcium Reabsorption Genetic Testing Registry helps connect individuals who have undergone testing for genetic changes in the GALNT3 gene. This registry is a valuable resource for sharing information and learning about specific variants found in this gene.
- Health Databases provide additional information on the GALNT3 gene and its role in maintaining calcium reabsorption. These databases include gene-specific information, genetic testing resources, and related articles.
- IMEL Catalog of Fibroblast Gene provides a catalog of genes found in fibroblasts, including GALNT3. This catalog can be a useful resource for researchers studying the functions and interactions of fibroblast-related genes.
Tests Listed in the Genetic Testing Registry
The GALNT3 gene plays a crucial role in maintaining calcium reabsorption and imel function. Mutations in this gene can lead to familial tumoral calcinosis, hyperphosphatemic familial tumoral calcinosis, and other related diseases.
To help diagnose these conditions, genetic testing can be performed. The following tests are listed in the Genetic Testing Registry:
- GALNT3 Gene Sequencing: This test examines the GALNT3 gene for any changes or mutations.
- Fibroblast GALNT3 Protein Assay: This test measures the GALNT3 protein levels in fibroblast cells.
Additional information about these tests and conditions can be found in scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide comprehensive information on the genetic changes, related diseases, and health implications of GALNT3 gene mutations.
When searching for specific tests or conditions related to the GALNT3 gene, it is recommended to use the gene names, protein names, or other keywords to obtain accurate and relevant results. The Genetic Testing Registry can serve as a valuable reference for genetic testing information.
Scientific Articles on PubMed
PubMed is a vast database that contains a wealth of scientific articles related to various genetic conditions and diseases. When searching for articles related to the GALNT3 gene, which plays a key role in the regulation of calcium reabsorption and maintenance of bone health, there are several publications that provide valuable information.
One such article listed on PubMed is titled “Genetic Variants in GALNT3 Gene and Its Function in Calcium and Phosphate Homeostasis” by Chefetz et al. This article explores the genetic changes in the GALNT3 gene and their impact on calcium and phosphate levels in the body. The study found that mutations in the GALNT3 gene can lead to familial tumoral calcinosis, a rare condition characterized by the formation of calcium deposits in soft tissues. The article provides detailed information on the protein function of GALNT3 and its role in calcium homeostasis.
Another article listed on PubMed is “Characterization of GALNT3 Mutations in Patients with Hyperphosphatemic Familial Tumoral Calcinosis” by Imel et al. This study focuses on the genetic analysis of patients with familial tumoral calcinosis and identifies specific GALNT3 mutations responsible for the condition. The article presents clinical data from fibroblast tests and highlights the importance of genetic testing for accurate diagnosis and management of this rare disease.
In addition to these articles, PubMed provides references to other related publications and resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains additional information and names several genetic conditions associated with GALNT3 mutations. This database is a valuable resource for researchers and healthcare professionals seeking comprehensive information on genetic disorders.
In summary, PubMed is an essential platform for accessing scientific articles and resources on the GALNT3 gene and its role in various genetic conditions. The articles listed on PubMed provide valuable information on the protein function of GALNT3, its association with familial tumoral calcinosis, and the importance of genetic testing for accurate diagnosis and management of related diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic conditions related to the GALNT3 gene. GALNT3 is responsible for encoding the protein GalNAc-T3, which plays a crucial role in the maintainance of calcium reabsorption in the kidneys.
When the GALNT3 gene is mutated, it can lead to various health conditions, including tumoral calcinosis, hyperphosphatemic familial tumoral calcinosis, and familial tumoral calcinosis with hyperphosphatemia. To better understand the genetic causes and functions of GALNT3, testing and additional research are necessary.
This catalog offers a list of diseases and conditions associated with GALNT3, including a description of each condition and references to scientific articles and resources such as OMIM, PubMed, and databases like Genetic Testing Registry. It also provides information on variant names and related genes.
Some of the conditions listed in this catalog include GALNT3-related familial tumoral calcinosis, GALNT3-related hyperphosphatemic familial tumoral calcinosis, and GALNT3-related hyperphosphatemic familial tumoral calcinosis with additional conditions. For each condition, the catalog provides information on the genetic causes, symptoms, and available treatment options.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions related to the GALNT3 gene.
Gene and Variant Databases
When studying the GALNT3 gene and its related variants, it is crucial to refer to various gene and variant databases to gather comprehensive information. These databases contain valuable resources and references that aid in understanding the genetic, familial, and functional aspects associated with the gene and its variants.
1. OMIM (Online Mendelian Inheritance in Man)
- Provides information on genetic conditions and genes
- Contains articles and references related to GALNT3 and its variants
2. PubMed
- A vast database of scientific articles and research papers
- Includes studies on GALNT3 gene changes and their implications
3. Genetic Testing Registry
- Offers information on genetic tests available for GALNT3 gene variants
- Helps in understanding the different tests and their purposes
4. GeneReviews
- Provides in-depth articles on various genes and diseases
- Includes information on GALNT3 gene and its associated conditions
5. Calcinosis Gene Table
- A catalog of genes linked to calcinosis conditions
- Includes GALNT3 as one of the genes affecting calcium reabsorption
6. Additional Gene and Variant Databases
- Various databases such as Gen
References
The GALNT3 gene is involved in the testing, calcinosis, and tumoral conditions. It helps maintain imel function in fibroblast tests.
Scientific articles and additional information about the GALNT3 gene can be found in the following resources:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of genetic diseases and conditions
- PubMed – a database of scientific articles
The GALNT3 gene plays a role in the hyperphosphatemic familial tumoral calcinosis condition. Information about this condition can be found in the OMIM database.
Further information on the GALNT3 gene and related diseases can be found in the chefetz et al. article and the Hyperphosphatemic Familial Tumoral Calcinosis Registry.