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The MYBPC1 gene, also known as the slow type C-protein gene, is a gene that provides instructions for making a protein called slow myosin-binding protein C. This protein is found in the muscles and is involved in regulating the contraction and relaxation of muscle fibers.

Changes in the MYBPC1 gene can cause different types of conditions and diseases. Mutations in this gene have been associated with distal arthrogryposis type 1, a genetic disorder characterized by joint contractures and muscle weakness. Other changes in the MYBPC1 gene have been linked to other muscle-related disorders.

Information about the MYBPC1 gene can be found in various scientific databases and resources. PubMed and OMIM are two popular databases that provide references to scientific articles and other resources related to genes and genetic testing. The OMIM catalog, for example, lists the MYBPC1 gene and provides information on the associated diseases and variants.

Genetic testing for changes in the MYBPC1 gene may be available, and can help diagnose or confirm a suspected genetic condition. Testing can also provide additional information for healthcare professionals and individuals seeking information about their genetic health. If you have concerns about the MYBPC1 gene or related conditions, it is important to consult with a healthcare provider or genetic counselor for appropriate testing and information.

As research continues, more information about the MYBPC1 gene and its role in various diseases and conditions will become available. It is important to stay updated on the latest scientific findings and resources to ensure accurate and comprehensive understanding of this gene and its impact on health.

Genetic changes in the MYBPC1 gene can lead to various health conditions. MYBPC1 codes for a muscle protein called c-protein that is involved in the contraction and relaxation of muscles. When genetic changes occur in this gene, it can disrupt the normal function of the c-protein and lead to muscle-related disorders.

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Testing for genetic changes in the MYBPC1 gene can be done through various methods. There are databases, such as OMIM and Pubmed, that provide information on the related diseases and variants of MYBPC1. Genetic testing laboratories also offer tests for specific genetic changes in this gene. These tests can help in confirming a diagnosis and determining the risk of developing certain health conditions.

Other resources for additional information on MYBPC1-related health conditions include scientific articles, registry databases, and other online resources. These sources provide details on the symptoms, treatment options, and prognosis associated with genetic changes in MYBPC1.

Some of the health conditions related to genetic changes in MYBPC1 include:

  • Distal arthrogryposis
  • Skeletal muscle diseases
  • Slow-type muscle fibers
  • Myosin protein variant

It is important to consult a healthcare professional or a genetic counselor for accurate diagnosis and interpretation of genetic testing results. They can provide personalized guidance and support based on the specific genetic changes and health conditions associated with MYBPC1.

References:

  1. OMIM: Online Mendelian Inheritance in Man. Retrieved from [OMIM website]
  2. Pubmed: [List of related articles on Pubmed]
  3. [Other relevant references]

Distal arthrogryposis type 1

Distal arthrogryposis type 1 is a genetic condition caused by mutations in the MYBPC1 gene. This gene provides instructions for making a protein called myosin-binding protein C, slow-type. Mutations in the MYBPC1 gene disrupt the normal functioning of this protein, resulting in the development of arthrogryposis.

Arthrogryposis is a group of disorders characterized by joint contractures, which are permanent muscle tightening. In distal arthrogryposis type 1, the contractures mainly affect the hands and feet, leading to limited mobility and range of motion.

See also  HAL gene

Additional Resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions. You can find more information on distal arthrogryposis type 1 and the MYBPC1 gene on the OMIM website.
  • PubMed: PubMed is a database of scientific articles. You can search for articles related to distal arthrogryposis type 1 and the MYBPC1 gene on the PubMed website.
  • Gene Testing: Genetic testing can confirm a diagnosis of distal arthrogryposis type 1. Several laboratories offer genetic testing for this condition.
  • Registry: The International Registry of Myosin Variants is a catalog of changes in myosin genes, including MYBPC1. It provides additional information on the genetic changes associated with distal arthrogryposis type 1.
  • Other Genes: Distal arthrogryposis type 1 is caused by mutations in the MYBPC1 gene, but there are other genes associated with different types of arthrogryposis. If genetic testing does not identify a mutation in MYBPC1, additional genes should be considered.
  • Related Conditions: There are other genetic conditions that can cause arthrogryposis. It is important to consider these conditions when evaluating a patient with distal arthrogryposis type 1 symptoms.

These resources can provide valuable information and support for individuals and families affected by distal arthrogryposis type 1. Consult with healthcare professionals and genetic counselors for more specific information and recommendations.

Other Names for This Gene

The MYBPC1 gene is also known by several other names:

  • MYBP SLOW
  • C-protein slow
  • Myosin-binding protein C, slow-type
  • Slow-type myosin-binding protein C

These additional names reflect the different names and aliases that the MYBPC1 gene has been given in scientific literature, databases, and resources related to genetic testing and health conditions. They are listed to provide further information and references for researchers and individuals interested in the gene.

Furthermore, mutations or changes in the MYBPC1 gene have been associated with various conditions and muscle-related disorders, including:

  • Distal arthrogryposis type 9 (DA9)
  • Sporadic distal arthrogryposis 1 (DA1)
  • Slow skeletal muscle fiber type 1 (SSM1)

These conditions and related genes/proteins are included in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. They can be further explored for more information on the genetic variations, testing, and health implications of the MYBPC1 gene.

Additional Information Resources

The MYBPC1 gene is related to several health conditions. There are various databases and resources available for obtaining more information on this gene and its related diseases.

  • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic variants, changes in the MYBPC1 gene, and their associations with different conditions.
  • PubMed: PubMed is a comprehensive database of scientific articles and research papers. It contains articles related to the MYBPC1 gene, its functions, and its relevance to various diseases.
  • Genetic Testing Registry: This registry provides information on available genetic tests for the MYBPC1 gene and associated conditions. It includes information on laboratory tests, test availability, and clinical validity.
  • Catalog of Genes and Diseases: This catalog provides an extensive list of genes and their associations with different diseases, including MYBPC1 and related conditions.

In addition to these databases, there are other resources available for obtaining information on the MYBPC1 gene and its related diseases. These resources include articles and references from scientific journals, as well as genetic testing resources for identifying specific genetic variants and mutations.

It is important to note that the MYBPC1 gene is primarily associated with conditions affecting muscles, such as distal arthrogryposis type 1. However, it may also have implications in other health conditions that are currently being investigated.

For more information and resources related to the MYBPC1 gene, it is recommended to consult the above-mentioned databases and resources or seek guidance from healthcare professionals familiar with this gene and its implications.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for the MYBPC1 gene and related conditions. The MYBPC1 gene encodes a protein called c-protein, which is found in muscles.

See also  Knobloch syndrome

Testing for mutations in the MYBPC1 gene can help diagnose and determine the type of arthrogryposis, a condition characterized by stiffness and limited movement in the joints.

In the GTR, you can find information about tests that analyze the MYBPC1 gene, as well as other genes related to arthrogryposis and related conditions. The GTR provides details about the test names, test variant, and testing methods.

The GTR also offers additional resources such as scientific articles, databases, and references to health-related information on OMIM and PubMed. These resources can provide more information about the MYBPC1 gene and related genes, proteins, and diseases.

Tests listed in the GTR are categorized based on their relevance to the MYBPC1 gene and related conditions. You can find tests for specific genes, such as myosin, as well as tests for other genes associated with arthrogryposis.

Slow variant and distal myopathies are some of the conditions tested for in the GTR. The GTR catalog provides a comprehensive list of tests available for various genes and conditions.

For more information and to access the Genetic Testing Registry, visit their website.

Scientific Articles on PubMed

The MYBPC1 gene is a slow type I muscle fiber type gene. It is one of the many genes that regulate the production of proteins in slow-twitch muscle fibers. In order to better understand the functions and characteristics of this gene, researchers often turn to various resources and databases.

PubMed is one such database that provides access to a vast collection of scientific articles related to genes, including MYBPC1. These articles delve into topics such as the structure and function of the MYBPC1 gene, its role in muscle development and diseases, and its potential therapeutic implications.

Studies have been conducted to identify variants and mutations in the MYBPC1 gene. These variants are listed in the PubMed catalog, along with references to relevant scientific articles. By studying these variants, researchers aim to gain insights into the genetic basis of muscle-related conditions, such as arthrogryposis and distal myopathy.

PubMed also serves as a valuable resource for genetic testing laboratories and health professionals. It provides information on available tests for MYBPC1 gene mutations and related conditions. This information can be crucial for accurate diagnosis and appropriate management of these conditions.

In addition to MYBPC1, PubMed contains scientific articles on other genes that are closely related to muscle development and function. These genes include myosin and other genes that play a role in the structure and regulation of muscles.

By studying the changes and mutations in these genes, researchers can gain a better understanding of the health implications and potential treatments for various muscle-related diseases.

In summary, PubMed is an invaluable resource for researchers, health professionals, and individuals interested in the MYBPC1 gene and other genes related to muscle development and diseases. It provides access to a wide range of scientific articles, genetic testing information, and references to further explore the intricacies of these genes and their role in human health.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes associated with various diseases and conditions. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

The OMIM database contains information on over 7,000 genetic conditions and is continuously updated with new findings and research. It includes detailed descriptions of genes, their protein products, and the diseases or conditions caused by mutations in these genes.

Each gene and associated disease in the catalog is assigned a unique OMIM number, making it easy to search and navigate the database. The catalog also provides links to relevant scientific articles, pubmed references, and additional resources for further reading and exploration of the topic.

For example, the MYBPC1 gene, also known as slow myosin binding protein C, is listed in the OMIM catalog with its associated diseases and conditions. Mutations in this gene have been found to cause arthrogryposis and other related muscle disorders.

See also  TSC2 gene

Genetic testing is available for many of the genes listed in the OMIM catalog. These tests can help diagnose genetic conditions and provide valuable information for treatment and management. Healthcare professionals can use the information from the catalog to determine which tests are appropriate for specific patients.

In addition to the OMIM database, there are other genetic databases and registries that provide information on specific genes and diseases. These resources can be used in conjunction with the OMIM catalog to gather a comprehensive understanding of a specific condition.

Overall, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals interested in learning about genes, diseases, and the latest scientific discoveries in the field of genetics.

Key Points:

  • The OMIM database provides a catalog of genes and associated diseases and conditions.
  • Each gene and disease is assigned a unique OMIM number for easy navigation.
  • The catalog includes links to scientific articles, pubmed references, and additional resources for further reading.
  • Genetic testing is available for many genes listed in the catalog.
  • Other genetic databases and registries can be used in conjunction with OMIM for comprehensive information on specific conditions.

Gene and Variant Databases

When studying the MYBPC1 gene and related conditions, it is essential to have access to reliable databases that provide comprehensive information about genetic testing, gene variants, and related scientific articles. These databases function as valuable resources for researchers, healthcare professionals, and patients seeking to understand more about this gene and its implications for health.

OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalogue of human genes and genetic conditions. It provides information on the MYBPC1 gene, including its DNA sequence, gene function, variants, and associated diseases. OMIM is an invaluable resource for understanding the genetic basis of various diseases and offers references to scientific articles for further reading.

PubMed

PubMed is a database of scientific articles, including those related to the MYBPC1 gene and its role in different conditions. It can be used to search for publications that highlight specific aspects of the gene, its variants, and their implications. PubMed provides a wealth of information on the latest research findings and offers references to other valuable resources.

Genetic Testing Registries

Genetic testing registries, such as the C-Protein Registry, are specifically dedicated to collecting information on gene variants and related diseases. These registries enhance our understanding of the clinical and genetic characteristics of MYBPC1 variants. They can also provide additional information on available genetic tests for specific variants and related conditions.

Other Gene and Variant Databases

In addition to the aforementioned resources, there are other gene and variant databases that contain information on the MYBPC1 gene and its role in health and disease. These databases may provide data on changes in the proteins encoded by the gene, additional information on related genes, and variant names, among other details. Some of these databases include health-related databases, as well as those focused on specific conditions such as distal arthrogryposis.

Overall, gene and variant databases play a crucial role in facilitating research and understanding the MYBPC1 gene and related conditions. They provide scientists, healthcare professionals, and patients with access to a wealth of genetic information, scientific articles, and testing resources. Utilizing these databases can greatly contribute to advancements in the field of genetics and ultimately improve our understanding and management of MYBPC1 gene-related conditions.

References

Additional information on MYBPC1 gene can be found in scientific articles, health resources, and databases listed above. These resources provide information on the function of the MYBPC1 gene, related diseases and conditions, genetic testing and variant analysis. Testing for mutations in the MYBPC1 gene can help diagnose or assess the risk of certain muscle-related disorders.

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