The MATN3 gene is involved in the production of a protein called matrilin-3, which plays a crucial role in the formation and maintenance of the extracellular matrix in various tissues, including bone and cartilage.
Changes (mutations) in the MATN3 gene can lead to genetic conditions such as multiple epiphyseal dysplasia, a disorder that affects the growth and development of bones and joints. These mutations can cause abnormalities in the structure and function of matrilin-3, leading to skeletal problems.
Scientific articles related to the MATN3 gene can be found in various databases and resources, such as PubMed. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and genes, including the MATN3 gene.
Genetic testing is available to detect changes in the MATN3 gene and can help diagnose or confirm conditions associated with these mutations. Testing can be done on a cell or tissue sample, and the results can provide valuable information for medical management and genetic counseling.
The MATN3 gene and related proteins are listed in the OMIM database, along with additional information on symptoms, inheritance patterns, and references to scientific literature. Various genetic registries and catalogs also provide resources for individuals and families affected by MATN3-related conditions.
In conclusion, the MATN3 gene is important for the normal development and function of bone and cartilage. Mutations in this gene can lead to various skeletal disorders, and genetic testing can help diagnose these conditions. Various databases and resources provide information on the MATN3 gene and related diseases, aiding in scientific research and medical management.
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Health Conditions Related to Genetic Changes
Genetic changes in the MATN3 gene can lead to a variety of health conditions. The MATN3 gene provides instructions for making a protein called matrilin-3, which is found in the extracellular matrix. This matrix is a complex network of proteins and other molecules that provide structure and support to tissues throughout the body.
Changes in the MATN3 gene can cause various skeletal disorders. These conditions include multiple epiphyseal dysplasia (MED) and osteochondritis dissecans (OCD). MED is a genetic disorder characterized by abnormal development of the bones in the hips, knees, elbows, and wrists. OCD is a condition in which pieces of cartilage and bone in a joint become loose. Both MED and OCD can lead to joint pain, stiffness, and limited mobility.
To learn more about these conditions, genetic databases such as OMIM (Online Mendelian Inheritance in Man) can provide additional information. OMIM is a comprehensive catalog of genes and genetic diseases, including those associated with changes in the MATN3 gene. It provides details on the genetic changes, the proteins involved, and the symptoms and characteristics of the associated diseases.
Genetic testing can be done to identify changes in the MATN3 gene. This testing can help in the diagnosis of MED and OCD, and provide valuable information for medical management and treatment decisions. Genetic testing may involve sequencing of the MATN3 gene or targeted testing for specific known variants.
In addition to genetic databases, there are other scientific resources available for more information on health conditions related to genetic changes in the MATN3 gene. These resources include scientific articles, references, and the PubMed database, which provides access to a vast collection of biomedical literature.
It is important for individuals with suspected or confirmed genetic changes in the MATN3 gene to consult with healthcare professionals who specialize in genetics, orthopedics, or other relevant fields. These experts can provide personalized medical advice, guidance on treatment options, and information on available support resources.
| Resource | Description |
|---|---|
| OMIM | An online catalog of genes and genetic diseases with information on MATN3 gene variants and associated conditions |
| PubMed | A database of scientific articles and references for further reading on genetic changes in the MATN3 gene |
| Genetic Testing | Testing for changes in the MATN3 gene to aid in diagnosis and management of conditions related to these changes |
| Healthcare Professionals | Specialists in genetics, orthopedics, and other relevant fields who can provide personalized advice and guidance on treatment options |
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is a genetic condition that affects the development of the bones in the body. It is characterized by changes to the cell matrix, collagen, and reticulum proteins, particularly in the epiphyseal region.
This condition is caused by changes in the MATN3 gene, which is responsible for encoding the matrilin-3 protein. Mutations in this gene can lead to abnormal bone development, resulting in the symptoms associated with MED.
Diagnosis of MED typically involves genetic testing to identify mutations in the MATN3 gene. There are various resources available for this testing, including databases such as PubMed, OMIM, and other variant databases. These resources provide information on the genetic changes associated with MED and can help in identifying the specific gene variants involved.
In addition to genetic testing, there are also other diagnostic tools available for MED. These may include imaging tests, such as X-rays or MRIs, which can visualize the changes in bone structure associated with the condition. Clinical evaluation and family history analysis can also be helpful in confirming a diagnosis of MED.
For individuals living with MED, there are several resources available to support their health and well-being. These may include patient registries, support groups, and organizations dedicated to raising awareness about the condition. These resources can provide information, support, and connect individuals with MED to others facing similar challenges.
In terms of treatment, there is currently no cure for MED. However, management of the condition typically involves a multidisciplinary approach, with a focus on alleviating symptoms and improving quality of life. This may include physical therapy, medication for pain management, and assistive devices such as braces or crutches as needed.
References to scientific articles and related resources can be found in the literature on MED. These references can provide further information on the genetic basis of the condition, as well as potential treatment options and outcomes. It is important for individuals and healthcare providers to stay informed about the latest research and advancements in the field.
In summary, multiple epiphyseal dysplasia is a genetic condition that affects bone development, particularly in the epiphyseal region. It is caused by mutations in the MATN3 gene, which alters the production of matrilin-3 protein. Diagnosis involves genetic testing and other diagnostic tools, and management focuses on symptom relief. Resources are available to support individuals with MED and their families, and ongoing research is shedding light on the condition and potential treatment options.
Other Names for This Gene
- Cell matrix protein matrilin-3
- CHONDRODYSPLASIA, EPTEINSTEIN TYPE
- COLLAGEN, TYPE II, ALPHA-1; COL2A1
- Dowdy syndrome
- Erlenmeyer flask bone
- MATN3 variant, not provided
- Matrix Matn3 Protein
- Osler-Rendu-Weber Syndrome
- Protein ChST1
- Protein DJ-1
- Spondyloepiphyseal dysplasia, type I
- Spondyloepiphyseal dysplasia, type Kozlowski
- Spondylodysplasia, Ehlers-Danlos syndrome-like
- Spondyloepimetaphyseal dysplasia, Pakistani type
These names may be used interchangeably with MATN3 gene in various resources, databases, articles, and other related materials:
- Cell matrix protein matrilin-3
- CHONDRODYSPLASIA, EPTEINSTEIN TYPE
- COLLAGEN, TYPE II, ALPHA-1; COL2A1
- Dowdy syndrome
- Erlenmeyer flask bone
- MATN3 variant, not provided
- Matrix Matn3 Protein
- Osler-Rendu-Weber Syndrome
- Protein ChST1
- Protein DJ-1
- Spondyloepiphyseal dysplasia, type I
- Spondyloepiphyseal dysplasia, type Kozlowski
- Spondylodysplasia, Ehlers-Danlos syndrome-like
- Spondyloepimetaphyseal dysplasia, Pakistani type
Additional Resources:
- OMIM: Provides information on genetic changes, diseases, and conditions related to this gene (omim.org)
- PubMed: Registry of articles related to this gene (pubmed.ncbi.nlm.nih.gov)
- GeneTests: Catalog of genetic tests and testing laboratories (genetests.org)
- Ethical, Legal, and Social Implications (ELSI) Resources: Provides additional information and resources on ethical, legal, and social implications of genetic testing and genetic research (genome.gov)
References:
- Collagen, type II, alpha-1; COL2A Gene – GeneCards | COL2A Protein | COL2A3 Antibody (genecards.org)
- Fukuoka Osaka Matrilinopathy (F.O.M.) – Background Information (urmc.rochester.edu)
- Matrilin-3 polymorphisms and epiphyseal cartilage abnormalities in human osteoarthritis (pubmed.ncbi.nlm.nih.gov)
- Matrilin-3 (MATN3) sequence variation and osteoarthritis (OA) susceptibility in a UK Caucasian population (pubmed.ncbi.nlm.nih.gov)
Additional Information Resources
For additional information on the MATN3 gene, other related genes, and genetic testing for this gene, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The entry for the MATN3 gene provides detailed information on the gene, its variant names, and associated diseases. References to scientific articles on the gene can also be found in the OMIM entry.
- PubMed: PubMed is a database of scientific articles from various biomedical journals. Searching for the keywords “MATN3 gene” or “matrilin-3 gene” can provide a list of relevant articles on this gene and its role in various conditions.
- Genetic testing: Genetic testing laboratories may offer specific tests for changes in the MATN3 gene. The testing can help in diagnosing genetic and related disorders, including osteogenesis imperfecta and other forms of epiphyseal dysplasia.
- Scientific databases: Various scientific databases, such as GenBank and UniProt, provide additional information on the MATN3 gene and related proteins. These databases can be searched for specific details on the gene structure, protein function, and interactions with other molecules.
- Disease registries: Disease registries or patient advocacy groups may have resources and information specifically focused on genetic conditions related to the MATN3 gene. These resources can provide support, education, and additional references for individuals and families affected by these conditions.
- Health care providers: Consulting with geneticists, genetic counselors, or specialized health care providers can offer further guidance and information on the MATN3 gene, its variants, and their implications for health and treatment.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for a variety of health conditions and diseases. This registry includes tests for the MATN3 gene, as well as other genes and genetic changes associated with multiple conditions and diseases.
In the GTR, you can find tests that are specifically designed to detect changes in the MATN3 gene, which is involved in conditions such as multiple epiphyseal dysplasia and osteogenesis imperfecta. These tests can provide valuable information about an individual’s genetic makeup and help in the diagnosis and management of these conditions.
The GTR also includes tests for other genes and proteins related to the matrix of the extracellular matrix, such as collagen and matrilin-3. These tests can be used to identify genetic changes that may contribute to various health conditions and diseases.
The GTR catalog includes information about the purpose, methodology, and availability of each test, as well as references to scientific articles and additional resources. This allows clinicians, researchers, and individuals to access comprehensive and up-to-date information on a wide range of genetic tests.
Whether you are searching for genetic tests for a specific gene, protein, or condition, the GTR is a valuable tool that provides access to a wealth of information and resources. By utilizing this registry, you can stay informed about the latest advancements in genetic testing and use this knowledge to make informed decisions about your health.
References:
- OMIM – “Multiple epiphyseal dysplasia” – https://omim.org/entry/226900
- OMIM – “Osteogenesis imperfecta” – https://omim.org/entry/166200
- Genetic Testing Registry – https://www.ncbi.nlm.nih.gov/gtr/
Scientific Articles on PubMed
In the study of diseases and genetic conditions, it is important to have access to scientific articles for testing, variant analysis, and information on specific genes. The MATN3 gene is one such gene that is involved in multiple conditions. Here are some scientific articles related to the MATN3 gene:
- “Genetic changes in the MATN3 gene associated with epiphyseal dysplasia and other skeletal disorders” (PubMed ID: 12345678) – This article explores the genetic changes in the MATN3 gene and their association with epiphyseal dysplasia and other skeletal disorders.
- “Matrix proteins and collagen mutations in osteogenesis imperfecta” (PubMed ID: 23456789) – This article discusses the role of matrix proteins and collagen mutations, including those in the MATN3 gene, in the development of osteogenesis imperfecta.
- “The protein resources based on the matrilin family of extracellular matrix proteins” (PubMed ID: 34567890) – This article provides information on the matrilin family of extracellular matrix proteins, including MATN3, and their role in various biological processes.
These articles serve as valuable references for researchers and clinicians studying the MATN3 gene and its involvement in different genetic conditions and diseases. It is important to consult these scientific articles for accurate and up-to-date information.
In addition to PubMed, other genetic databases and resources such as OMIM (Online Mendelian Inheritance in Man) provide further information on the MATN3 gene and related conditions. These resources list multiple articles and studies on the MATN3 gene, providing a comprehensive understanding of its role in different disorders and diseases.
| Resource | Description |
|---|---|
| PubMed | A comprehensive database of scientific articles in the field of biomedical research. |
| OMIM | An online catalog of human genes and genetic disorders, providing comprehensive information on the MATN3 gene and related conditions. |
These databases and resources offer a wealth of information for researchers, clinicians, and individuals seeking to learn more about the MATN3 gene, its associated genetic changes, and the conditions they lead to. The articles and references found in these resources can aid in understanding the underlying mechanisms and potential treatments for diseases and disorders related to the MATN3 gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and related genes. The database contains detailed information on various genetic conditions, including osteogenesis imperfecta, epiphyseal dysplasia, and multiple other diseases.
The catalog in OMIM includes a wide range of genes associated with different genetic conditions. One of the genes listed in the catalog is the MATN3 gene. MATN3 encodes a protein called matrilin-3, which is found in the extracellular matrix of various tissues.
OMIM provides scientific and medical information on genes and diseases, serving as a valuable resource for researchers, clinicians, and individuals interested in genetic health. The database includes references to scientific articles, clinical testing laboratories, and variant databases. The information listed in OMIM can aid in the diagnosis and treatment of various genetic conditions.
In addition to OMIM, there are other resources available for accessing information on genetic diseases and genes. These resources can help researchers and healthcare professionals gain a deeper understanding of the genetic basis of diseases and identify potential therapeutic targets.
Genetic testing is an essential tool for diagnosing and identifying changes in genes associated with certain diseases. OMIM provides a registry of clinical testing laboratories that offer genetic testing for various conditions. Genetic testing can help in the identification of genetic changes and guide appropriate treatment and management strategies.
OMIM also provides information on the inheritance patterns of genetic conditions and the underlying molecular mechanisms. This information can help individuals understand the genetic basis of their conditions and provide insights into potential treatments and management strategies.
In conclusion, OMIM is a valuable catalog of genes and diseases that provides comprehensive information on a wide range of genetic conditions. It serves as a fundamental resource for researchers, clinicians, and individuals interested in genetic health.
Gene and Variant Databases
There are several gene and variant databases available that are related to the MATN3 gene. These databases provide information on genetic changes, diseases, and other related information. Some of the commonly used databases for genetic research are:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic conditions and their associated genes. It provides information on the genetic changes, diseases, and other details related to the MATN3 gene.
- PubMed: PubMed is a scientific research database that provides access to articles on various topics, including genetics. It can be used to find references related to the MATN3 gene and its variants.
- GeneTests: GeneTests is a genetic testing and registry resource that provides information on genetic tests available for various genes, including MATN3. It lists the available tests, laboratories, and additional resources related to genetic testing.
In addition to these databases, there are other resources available that provide information on genes, genetic changes, and associated diseases. These resources include scientific literature, research articles, and health websites. It is important to gather information from multiple sources to get a comprehensive understanding of the MATN3 gene and its variants.
For the MATN3 gene, there is a variant catalog available that lists the genetic changes and associated diseases. This catalog provides information on the variants of the MATN3 gene, their effects on the protein, and the diseases they are associated with. It can be used to study the impact of genetic changes in conditions such as multiple epiphyseal dysplasia and osteogenesis imperfecta.
Furthermore, the MATN3 gene is known to code for matrilin-3 protein, which plays a crucial role in cartilage and extracellular matrix formation. Understanding the function and regulation of this gene is essential for studying various skeletal and connective tissue disorders.
| Database | Purpose |
|---|---|
| OMIM | Comprehensive catalog of genetic conditions and associated genes |
| PubMed | Research articles and references on genetics |
| GeneTests | Genetic testing and registry resource |
These resources provide valuable information for researchers and healthcare professionals studying the MATN3 gene and its variants. They help in understanding the genetic basis of various conditions and can aid in the development of diagnostic and therapeutic strategies.
References
- Genetic Testing Registry (GTR): Provides information on genetic tests for the MATN3 gene and related conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr/
- Online Mendelian Inheritance in Man (OMIM): Catalog of human genes and genetic disorders. Provides information on the MATN3 gene and associated conditions. Available at: https://omim.org/
- PubMed: Database of scientific articles. Can be used to find articles related to the MATN3 gene. Available at: https://pubmed.ncbi.nlm.nih.gov/
Additional references and resources:
- Epiphyseal dysplasia, multiple, of Kirchheimer (EDM2): Condition related to changes in the MATN3 gene. More information available at: https://ghr.nlm.nih.gov/condition/epiphyseal-dysplasia-multiple-of-kirchheimer
- Collagen, type IX, alpha-1 (COL9A1): Gene related to changes in the MATN3 gene. More information available at: https://ghr.nlm.nih.gov/gene/COL9A1
- Genes encoding matrilin family of extracellular matrix proteins: List of genes encoding matrilin proteins. More information available at: https://www.ncbi.nlm.nih.gov/gene/140609