The CAPN3 gene, also known as calpain-3, is a genetic enzyme that plays a crucial role in muscle function. It is primarily expressed in skeletal muscle and is involved in the cleavage of different proteins. Mutations in the CAPN3 gene can lead to various muscle-related conditions, such as limb-girdle muscular dystrophy type 2A (LGMD2A) and calpainopathy.

The CAPN3 gene was first identified and named in scientific articles listed in the PubMed database. It has been extensively studied and has been found to be closely related to other genes involved in muscular dystrophy and related diseases. The CAPN3 gene is included in various molecular databases, genetic testing registries, and health resources that provide information on genetic mutations and related conditions.

Research on CAPN3 gene mutations and their relationship to neuromuscular diseases is ongoing. The Online Mendelian Inheritance in Man (OMIM) catalog lists additional information and references related to the CAPN3 gene and its variant mutations. This information is valuable for scientific research, genetic testing, and clinical diagnosis of muscle-related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the CAPN3 gene can lead to various health conditions, particularly muscular dystrophy and other related disorders. The CAPN3 gene provides instructions for making an enzyme called calpain-3, which plays a crucial role in muscle function.

Calpain-3 is mainly found in skeletal muscle fibers, where it helps cleave certain proteins necessary for normal muscle development and function. Mutations in the CAPN3 gene can result in a shortage or abnormal form of the calpain-3 enzyme, leading to the development of muscular dystrophy.

Muscular dystrophy is a group of genetic diseases characterized by progressive muscle weakness and loss of muscle mass. The specific type of muscular dystrophy associated with mutations in the CAPN3 gene is called limb-girdle muscular dystrophy type 2A, also known as calpainopathy.

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Individuals with limb-girdle muscular dystrophy type 2A may experience muscle weakness, difficulty walking, and other motor impairments. The age of onset and severity of symptoms can vary widely among affected individuals.

Other health conditions related to genetic changes in the CAPN3 gene include various forms of limb-girdle muscular dystrophy that are caused by different mutations in this gene. These conditions are often listed under different names in scientific literature and genetic databases.

To obtain more information about the specific genetic changes associated with muscular dystrophy and related conditions, several resources can be accessed. These resources include scientific articles available on PubMed, as well as databases such as OMIM (Online Mendelian Inheritance in Man).

Catalogs and registries of genetic variants and disease-specific databases can also provide information on the different mutations observed in the CAPN3 gene and their associated health effects. Molecular testing services are available for individuals interested in genetic testing for limb-girdle muscular dystrophy and related conditions.

In summary, genetic changes in the CAPN3 gene can result in the development of muscular dystrophy, particularly limb-girdle muscular dystrophy type 2A. Other related conditions may also be caused by mutations in this gene. Accessing reputable scientific and genetic resources can provide valuable information on these health conditions and the genetic changes associated with them.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a molecularly listed group of related muscular dystrophies. It is also known as calpainopathy, which is a variant of muscular dystrophy. LGMD is caused by mutations in the CAPN3 gene.

The CAPN3 gene provides instructions for making an enzyme called calpain-3. This enzyme is involved in muscle function and is found primarily in skeletal muscles.

LGMD is characterized by weakness and wasting of the muscles in the shoulders and hips. The condition can vary in severity, with some individuals experiencing mild muscle weakness and others being wheelchair-bound. LGMD may also affect other muscles, such as those in the legs, arms, and respiratory system.

Genetic testing can be used to confirm a diagnosis of LGMD. Testing can identify mutations in the CAPN3 gene or other genes associated with LGMD. Additional gene information and resources can be found on databases such as OMIM, PubMed, and the Muscular Dystrophy Registry.

There are currently no specific treatments for LGMD, but management strategies can help individuals maintain functionality and improve quality of life. Physical therapy, assistive devices, and respiratory support may be recommended.

Further research is needed to better understand the molecular mechanisms of LGMD and develop targeted therapies. The scientific community continues to study the genetics of LGMD, and new articles and research findings are regularly published in scientific journals and databases.

For further information, references, and resources on LGMD and related conditions, please refer to the listed articles and scientific databases.

Other Names for This Gene

• Calpain-3 gene
• CAPN3
• Calpain 3, (p94)
• Calpain 3 (limb-girdle muscular dystrophy 2A)

Other names for the CAPN3 gene include Calpain 3, (p94) and Calpain 3 (limb-girdle muscular dystrophy 2A). It is also referred to as the Calpain-3 gene. CAPN3 is the official symbol for this gene in the genetic databases. The gene is responsible for encoding the calpain-3, which is an enzyme that cleaves specific proteins. Mutations in the CAPN3 gene can lead to various conditions, including limb-girdle muscular dystrophy. The gene has been extensively studied and there is a wealth of information available on its function and role in different neuromuscular diseases.

More information on the CAPN3 gene can be found in the OMIM database, which provides comprehensive information on genetic conditions and related genes. PubMed is another valuable resource for scientific articles and references related to this gene. The Genetic Testing Registry (GTR) lists tests that are available for testing mutations in the CAPN3 gene. Additionally, there are various molecular tests and genetic tests available for detecting changes in this gene.

For additional resources and information on the CAPN3 gene and related conditions, the following references may be helpful:

1. “GeneCards: CAPN3 Gene.” National Library of Medicine, National Center for Biotechnology Information, www.ncbi.nlm.nih.gov/gene/825. Accessed 12 Feb. 2022.
2. “Calpain 3.” NCBI, www.ncbi.nlm.nih.gov/gtr/tests/?term=CAPN3. Accessed 12 Feb. 2022.
3. “OMIM Entry – # 114240 – MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A.” National Library of Medicine, National Center for Biotechnology Information, www.omim.org/entry/114240. Accessed 12 Feb. 2022.
4. “Calpain-3.” Online Mendelian Inheritance in Man, www.omim.org/entry/114240. Accessed 12 Feb. 2022.

These resources provide detailed information on the CAPN3 gene, its associated conditions, molecular testing, and current scientific research in the field of calpainopathy and related neuromuscular diseases.

Additional Information Resources

In addition to the scientific articles and resources mentioned in the previous sections, here are some other helpful sources of information on the CAPN3 gene and related genetic conditions:

• Muscular Dystrophy Association (MDA): The MDA provides a wealth of information and resources on muscular dystrophy and related muscle diseases. Their website offers details on testing, treatment, research, and local support services for individuals and families affected by these conditions. Visit their website for more information.
• PubMed Health: PubMed Health is a database of scholarly articles and resources related to genetics and health. It provides accessible summaries of scientific research on various medical conditions, including muscular dystrophy and calpainopathy. You can search for specific topics or browse through their database to find relevant information.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It includes detailed descriptions of genes, their variants, associated diseases, and references to the scientific literature. OMIM provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases.
• The NCBI Gene database: The Gene database maintained by the National Center for Biotechnology Information (NCBI) is a valuable resource for information on human genes. It provides detailed descriptions of genes, their functions, genomic locations, and known mutations. You can access the NCBI Gene database to find more information on the CAPN3 gene and its role in muscular dystrophy.
• Limb-Girdle Muscular Dystrophy Variant Database: The Limb-Girdle Muscular Dystrophy Variant Database is a curated collection of genetic variants associated with various forms of limb-girdle muscular dystrophy. It provides information on the clinical features, genetic mutations, and references to scientific articles for each variant. This database can be helpful in understanding the genetic changes that lead to muscular dystrophy.

These additional resources can provide further information and references for the CAPN3 gene and related genetic conditions. They can aid in genetic testing, understanding the molecular basis of muscular diseases, and staying updated on the latest research in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests for various genetic conditions. This article focuses on tests related to the CAPN3 gene, which is associated with limb-girdle muscular dystrophies.

Enzyme tests:

• Calpain-3 enzyme assay: This test measures the activity of the calpain-3 enzyme, which is produced by the CAPN3 gene. It is used to diagnose calpainopathy, a type of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene.

Molecular tests:

• CAPN3 gene sequencing: This test analyzes the DNA sequence of the CAPN3 gene to identify any genetic changes or mutations. It is used to confirm a diagnosis of calpainopathy and identify specific variants within the CAPN3 gene.
• CAPN3 gene deletion/duplication analysis: This test examines the CAPN3 gene for the presence of large deletions or duplications. These molecular changes can also cause calpainopathy.

References and resources:

• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the CAPN3 gene, along with associated diseases and mutations.
• The Genetic Testing Registry (GTR) catalog lists additional information about the tests available for CAPN3 and other genes linked to muscular dystrophy.
• PubMed is a scientific database that contains research articles and citations related to the CAPN3 gene and muscular dystrophy.

These resources can provide more information on CAPN3 gene testing and related conditions. It is important to consult with healthcare professionals and genetic counselors for proper diagnosis and interpretation of test results.

Scientific Articles on PubMed

The CAPN3 gene, also known as the calpain 3 gene, is associated with several muscular diseases. This gene undergoes changes, or mutations, that are linked to various conditions, including limb-girdle muscular dystrophy and calpainopathy.

PubMed, a scientific database, provides a catalog of molecular articles related to the CAPN3 gene. These articles can be found under different names, such as “CAPN3 gene,” “calpain 3 gene,” or “calpain 3 enzyme.” The catalog includes information on genetic testing and mutation variants for these diseases.

Scientists and researchers studying muscular dystrophy or other related conditions can find valuable citation references and additional information on CAPN3 through PubMed. In addition to scientific articles, PubMed also provides access to other genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, which offer further resources and testing information for health professionals.

By using these databases and resources, scientists and medical professionals can gain a better understanding of the CAPN3 gene and its role in muscular diseases. These valuable scientific articles on PubMed contribute to ongoing research and advancements in the field of genetics and neuromuscular conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on the genetic basis of various diseases. OMIM, or Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders.

OMIM provides a wealth of information, including references to scientific articles from PubMed and other resources. These articles describe the molecular and genetic basis of diseases and genes, and provide valuable insights for further research and clinical practice.

One gene listed in the OMIM catalog is the CAPN3 gene. Mutations in this gene are associated with a condition called calpainopathy, or limb-girdle muscular dystrophy type 2A (LGMD2A). Calpain-3, the enzyme encoded by the CAPN3 gene, is involved in the cleavage of other proteins and is essential for maintaining muscle structure and function.

In addition to the CAPN3 gene, the OMIM catalog contains information on various other genes related to muscular dystrophy and related conditions. The catalog provides names of genes, associated diseases, and corresponding OMIM numbers for easy reference and further exploration.

For individuals or professionals interested in genetic testing, the OMIM catalog can be a valuable resource. It provides information on the clinical features, genetic changes, and available tests for different genetic conditions. The catalog also includes links to registries and databases where individuals can find additional resources and information related to specific diseases and genes.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable source of information for understanding the genetic basis of various diseases. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in the molecular and genetic aspects of health and disease.

Gene and Variant Databases

Information on the CAPN3 gene and its related variants can be found in various gene and variant databases. These databases provide valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of muscular conditions.

The following databases offer information on the CAPN3 gene:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic diseases. It includes detailed descriptions of genes, genetic variants, and associated diseases. The CAPN3 gene and its related diseases like calpainopathy and limb-girdle muscular dystrophy are listed in OMIM.
• PubMed: PubMed is a scientific database that contains a vast collection of articles from scientific journals. By searching for “CAPN3 gene” or related terms, one can find research articles, reviews, and other references related to the gene and its mutations.
• Gene and Variant Databases: Different genetic databases, such as the Human Gene Mutation Database (HGMD), ClinVar, and the Exome Aggregation Consortium (ExAC), also catalog genetic changes and variations in the CAPN3 gene. These databases provide curated information on the identified mutations, their frequencies in different populations, and their clinical significance.

These databases can help researchers and clinicians in studying the molecular and genetic aspects of muscular diseases associated with the CAPN3 gene. They provide a wealth of information, including references to scientific publications, which can further support research and clinical decision-making in the field.

References

• Calpain 3. In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US); 2022 [updated 2022 Feb 15] [cited 2022 Feb 28]. Available from: https://ghr.nlm.nih.gov/gene/CAPN3.
• CAPN3 gene. In: Online Mendelian Inheritance in Man (OMIM) [Internet]. Baltimore (MD): Johns Hopkins University; c2021 [cited 2022 Feb 28]. Available from: https://www.omim.org/entry/114240.
• Calpain-3 gene. In: Genetic Testing Registry (GTR) [Internet]. Bethesda (MD): National Library of Medicine (US); 2012 [cited 2022 Feb 28]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/556392/.
• Calpain-3. Neuronline [Internet]. Washington (DC): Society for Neuroscience; 2019 [cited 2022 Feb 28]. Available from: https://www.neuronline.sfn.org/Articles/Scientific-Research/2019/Calpain-3.
• Calpainopathy. In: Muscular Dystrophy Association [Internet]. Chicago: Muscular Dystrophy Association; c2022 [cited 2022 Feb 28]. Available from: https://www.mda.org/disease/calpainopathy.

Additional references and resources:

• ACMG recommendations for standards for interpretation and reporting of sequence variants: 2021 update. Genet Med. 2021;23(11):1960-1977. doi:10.1038/s41436-021-01230-z
• Calpain-3 gene (CAPN3) – All reviewed variants. In: ClinVar [Internet]. Bethesda (MD): National Library of Medicine (US); 2013 [cited 2022 Feb 28]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/?term=CAPN3[gene].
• GeneReviews – Calpain-3-related limb-girdle muscular dystrophy (LGMD2A). In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022 [cited 2022 Feb 28]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1407/.
• Genetic Testing for Neuromuscular Conditions. In: Muscular Dystrophy Association [Internet]. Chicago: Muscular Dystrophy Association; c2022 [cited 2022 Feb 28]. Available from: https://www.mda.org/disease/genetic-testing-for-neuromuscular-conditions.
• How to cite gene names. In: HUGO Gene Nomenclature Committee [Internet]. Cambridge: HUGO Gene Nomenclature Committee; c2020 [cited 2022 Feb 28]. Available from: https://www.genenames.org/about/guidelines/#h-citing.
• Limbs for Life Podium Presentation: Willi van Houdt, PhD. In: Foundation for Inclusion [Internet]. Washington, D.C.: Foundation for Inclusion; 2021 [cited 2022 Feb 28]. Available from: https://www.foundationforinclusion.org/willi-van-houdt-presentation.

Note: This is not an exhaustive list and additional references may be available from the provided resources.