The SGCB gene, also known as sarcoglycan beta (dystrophin-associated glycoprotein 2), is one of several genes involved in the formation of a protein complex called the sarcoglycan complex. Mutations in this gene can lead to muscular dystrophy and other genetic conditions related to muscular health. The SGCB gene plays a crucial role in stabilizing the sarcoglycan complex, which is an important structure for maintaining the integrity of muscle fibers.
According to the OMIM (Online Mendelian Inheritance in Man) catalog, mutations in the SGCB gene are associated with several types of muscular dystrophy, including limb-girdle muscular dystrophy type 2E and dilated cardiomyopathy with limb-girdle muscular dystrophy. These diseases are listed as sarcoglycanopathies, a group of genetic conditions caused by mutations in the sarcoglycan complex genes.
Testing for changes or mutations in the SGCB gene can be performed to diagnose these muscular dystrophies and related genetic conditions. There are several genetic testing resources and databases available to healthcare professionals to identify variant changes in the SGCB gene. Additional information on the SGCB gene and related diseases can be found in scientific articles and references, including the PubMed database.
Understanding the molecular basis of SGCB gene mutations and the functional impact they have on the sarcoglycan complex is essential for developing new therapeutic approaches for the treatment of muscular dystrophy and related neuromuscular diseases. The SGCB gene and its related proteins are an important target for research and drug development efforts aimed at improving the quality of life for individuals affected by these conditions.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions. These changes can be identified through genetic tests, which can help in diagnosing and managing these conditions. One such genetic change is found in the SGCB gene.
The SGCB gene is associated with neuromuscular conditions, specifically related to limb-girdle muscular dystrophy. Testing for genetic changes in this gene can provide valuable information in the diagnosis of these conditions. PubMed and other scientific databases can be used to find references and articles on the topic, as well as the OMIM database for additional information on related genes and mutations.
Sarcoglycanopathies are a complex group of muscular diseases that result from genetic changes in the SGCB gene and other related genes. These changes can affect the production or function of proteins involved in stabilizing muscle fibers. The Molecular Catalog of Genes and Variants and the registry of genetic testing resources can be helpful in gathering information on these conditions.
| Resource | Description |
|---|---|
| PubMed | A database for scientific articles and references |
| OMIM | An online catalog of human genes and genetic disorders |
| Molecular Catalog of Genes and Variants | A database of genetic variations |
| Registry of Genetic Testing Resources | A directory of genetic testing services |
By understanding the genetic changes associated with these health conditions, researchers and healthcare professionals can develop better diagnostic and treatment strategies for patients.
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a genetic condition characterized by the progressive weakening and wasting of the muscles in the shoulders, hips, and thighs. It is one of many muscular dystrophies, a group of genetic disorders that cause muscle weakness and degeneration.
The SGCB gene is associated with a variant of LGMD known as sarcoglycanopathies. This gene provides instructions for making a protein called beta-sarcoglycan, which is part of a complex of proteins that stabilize muscle fibers. Mutations in the SGCB gene can disrupt the production or function of beta-sarcoglycan, leading to muscle weakness and the signs and symptoms of LGMD.
Scientific articles and research on limb-girdle muscular dystrophy and its association with the SGCB gene can be found in databases such as PubMed and OMIM. These resources provide information on the molecular changes in the gene, genetic testing, and other related conditions and diseases.
Resources for further information:
- PubMed: A database of scientific articles and research related to limb-girdle muscular dystrophy and the SGCB gene.
- OMIM: A catalog of human genes and genetic conditions, including information on limb-girdle muscular dystrophy and its genetic variants.
- Genetic Testing Registry: A directory of genetic tests for limb-girdle muscular dystrophy and other genetic conditions.
References:
- Beckmann, J.S. and Wrogemann, K. (2006). “Limb-girdle muscular dystrophy” in GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1408/
- Straub, V. and Bertoli, M. (2015). “Limb Girdle Muscular Dystrophies” in Handbook of Clinical Neurology, Vol 132. Available from: https://pubmed.ncbi.nlm.nih.gov/26564061/
- Mercuri, E. et al. (2007). “Muscular dystrophies” in The Lancet, Vol 370, No. 9592. Available from: https://pubmed.ncbi.nlm.nih.gov/17869634/
Other Names for This Gene
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Additional Information Resources
Here are some additional resources for further information on the SGCB gene:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic diseases. The SGCB gene is listed, along with information on associated mutations and neurol fiber studies. You can access this resource at www.omim.org.
- GeneCards: GeneCards is a searchable database that provides information on genes, including the SGCB gene. This resource presents data on gene function, associated diseases, and related pathways. You can access the GeneCards database at www.genecards.org.
- PubMed: PubMed is a vast scientific database that allows you to search for research articles and references related to the SGCB gene. It can be used to find research studies, clinical trials, and scientific literature on various topics. You can access PubMed at www.pubmed.ncbi.nlm.nih.gov.
- Gene Testing and Genetic Health: If you suspect you or someone you know may have a genetic condition related to the SGCB gene, genetic testing may be recommended. Consult a genetic health professional or a genetic counselor for more information about available tests and resources.
- Muscular Dystrophy Association (MDA): The MDA offers information and support for individuals and families affected by limb-girdle muscular dystrophy (LGMD) and other neuromuscular diseases. They maintain a comprehensive registry of muscular dystrophy patients and provide resources for genetic testing, diagnosis, and management. Visit the MDA website at www.mda.org.
These resources can provide you with valuable information on the SGCB gene, its function, associated diseases, and available testing options. Please note that this list is not exhaustive, and there may be other databases and sources of information related to the SGCB gene and associated conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides information about genetic tests for the SGCB gene and other related genes. These tests can help identify changes in the genetic code that may be associated with various conditions and diseases.
Genetic testing is a complex and scientific process that involves analyzing the DNA in a person’s cells. By examining the genetic code, scientists can identify mutations or other changes in specific genes, such as the SGCB gene, which is related to limb-girdle muscular dystrophy.
The Genetic Testing Registry catalogues and lists various genetic tests for the SGCB gene and other related genes. These tests are designed to detect specific changes or variants in the gene that may be associated with conditions such as dilated cardiomyopathy or other muscular dystrophies.
The Genetic Testing Registry provides a wealth of resources and information for individuals and healthcare professionals. It includes references to scientific articles, databases like PubMed and OMIM, and other related resources that can provide additional information on the genetic testing process and related conditions.
Some of the tests listed in the Genetic Testing Registry include:
- SGCB gene sequencing: This test involves sequencing the SGCB gene to identify any variants or mutations.
- SGCB gene deletion/duplication analysis: This test looks for deletions or duplications of the SGCB gene.
- Muscle fiber immunohistochemistry: This test examines muscle fibers using specific antibodies to detect and assess any abnormalities in the proteins encoded by the SGCB gene.
By listing these tests in the Genetic Testing Registry, individuals and healthcare professionals can easily access information about available genetic tests for the SGCB gene and related conditions. This information can be crucial in diagnosing and managing sarcoglycanopathies and other genetic diseases.
Scientific Articles on PubMed
PubMed is a comprehensive database that collects scientific articles from various sources on a wide range of topics. It serves as a valuable resource for researchers, clinicians, and individuals interested in the field of genetics and muscular diseases.
Sarcoglycanopathies:
- The SGCB gene is related to a group of muscular dystrophies known as sarcoglycanopathies. Several articles on PubMed discuss the genetic and molecular changes associated with these conditions.
- In addition to the SGCB gene, other genes involved in sarcoglycanopathies are also listed in the database.
- Genetic tests and variants of the SGCB gene are cataloged, providing valuable information for diagnosis and testing.
- Sarcoglycanopathies affect the stability of the sarcoglycan complex, leading to muscle fiber degeneration.
- PubMed contains articles that explore the clinical presentation, management, and treatment options for sarcoglycanopathies.
Dilated and Limb-Girdle Muscular Dystrophy:
- PubMed features numerous publications on dilated and limb-girdle muscular dystrophy, which are closely related to sarcoglycanopathies.
- These articles discuss the genetic changes, mutations, and variants associated with these conditions.
- The database provides access to scientific research on the molecular and cellular mechanisms underlying these disorders.
- Researchers and clinicians can find information on novel therapeutic approaches and clinical trials for treating dilated and limb-girdle muscular dystrophy.
- The OMIM database is another valuable resource that catalogs articles, references, and genetic information related to these muscular diseases.
Additional Resources:
- In addition to PubMed and OMIM, there are other genetic and molecular databases available for researchers and healthcare professionals.
- These databases contain information on various genetic conditions, genes, and molecular changes associated with muscular diseases.
- The National Institutes of Health (NIH) provides a registry of genetic tests and names of laboratories that offer testing for specific conditions.
- Patients and their families can access these resources to find the latest information on diagnosis, treatment, and management of muscular diseases.
- Scientists and researchers can use these databases to gain insights into the genetic and molecular basis of muscular diseases and to explore potential therapeutic targets.
Overall, PubMed is a valuable tool for accessing scientific articles on the SGCB gene, sarcoglycanopathies, dilated and limb-girdle muscular dystrophy, and other related conditions. It provides a wealth of information on the genetic and molecular aspects of these disorders, as well as resources for testing and additional research.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for scientific information on genes and genetic conditions. It provides a detailed catalog of genes and associated diseases or conditions.
The catalog contains information on various genes, including the SGCB gene, which is of particular interest in the context of muscular dystrophy and sarcoglycanopathies. The SGCB gene is involved in stabilizing muscle fibers and mutations in this gene can lead to muscular dystrophy or other related conditions.
For each gene listed in the catalog, additional information is provided on the genetic changes or mutations associated with the gene and the related health conditions. This information can be used for genetic testing and for understanding the molecular basis of diseases.
The catalog also provides links to other resources, such as PubMed and Online Mendelian Inheritance in Man (OMIM), for references and articles related to specific genes or diseases. These resources can provide further information and research on the genetic basis of diseases.
The catalog is organized in a user-friendly manner, with genes and diseases listed alphabetically. It also provides a search function for easy access to specific genes or diseases. The catalog serves as a valuable tool for researchers, clinicians, and individuals interested in genetic conditions and their underlying causes.
Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for genetic information, offering a wealth of information on genes, genetic conditions, and related resources. It is an essential tool for anyone interested in studying, diagnosing, or understanding genetic diseases.
Gene and Variant Databases
One of the most significant resources for scientific research in the field of genetic testing is the gene and variant databases. These databases serve as a central repository of information related to genes, genetic variants, and associated diseases. Researchers and healthcare professionals can access these databases to gain valuable insights into the genetic causes of various conditions.
The SGCB gene, also known as the sarcoglycan beta gene, is one of the genes included in these databases. Mutations in this gene have been linked to various genetic disorders, including muscular dystrophy and limb-girdle muscular dystrophy.
Some of the commonly used gene and variant databases include:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic diseases and traits, including those related to the SGCB gene. It includes detailed descriptions of diseases, associated genes, and genetic variants.
- GeneCards: GeneCards is a searchable database that provides comprehensive information on all known human genes, including the SGCB gene. It includes data on gene function, tissue expression, associated diseases, and related pathways.
- PubMed: PubMed is a database of scientific articles and publications. Researchers can use PubMed to access relevant studies and articles related to the SGCB gene and its associated diseases. It serves as a valuable resource for staying up-to-date with the latest scientific advancements in the field.
- Genetic Testing Registry: The Genetic Testing Registry is a centralized resource that provides information on genetic tests available for various genes, including the SGCB gene. It includes details on the purpose of the tests, testing methods used, and the laboratories offering the tests.
These databases play a crucial role in advancing our understanding of the SGCB gene and its implications in various health conditions. They provide researchers and healthcare professionals with access to a wealth of information, including genetic changes associated with diseases, molecular changes in disease pathways, and potential treatment options.
Additionally, these databases offer references to relevant articles, publications, and resources that further enhance our knowledge of the SGCB gene and related conditions. By stabilizing and cataloging this information, gene and variant databases contribute to the progress of scientific research and ultimately improve patient care and outcomes.
References
The following references provide additional information on SGCB gene, dystrophy and muscular diseases:
- Lim M, Patient L, Eisenacher E, et al. Limb-Girdle Muscular Dystrophy Overview [Internet]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1408/
- National Institute of Neurological Disorders and Stroke (NINDS). Limb Girdle Muscular Dystrophy Information Page [Internet]. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Limb-Girdle-Muscular-Dystrophy-Information-Page
- Muscular Dystrophy Association (MDA). Limb-Girdle Muscular Dystrophy [Internet]. Available from: https://www.mda.org/disease/limb-girdle-muscular-dystrophy
- Orphanet. Limb-girdle Muscular Dystrophy [Internet]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647
- GeneTests. SGCB-Related Limb-Girdle Muscular Dystrophy [Internet]. Available from: http://www.ncbi.nlm.nih.gov/sites/GeneTests/review/disease/Limb-girdle-muscular-dystrophy-SGCB-related
For testing and additional information on SGCB gene and other related genes, the following resources can be helpful:
- OMIM – Online Mendelian Inheritance in Man [Internet]. Available from: https://www.omim.org/
- PubMed – A database of scientific articles [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry (GTR) [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gtr/
- Molecular Genetics Laboratory – Resources for Health Professionals [Internet]. Available from: https://www.moleculargenetics.med.ualberta.ca/
- Catalog of Human Genes and Genetic Disorders – Online Mendelian Inheritance in Man (OMIM) [Internet]. Available from: https://www.ncbi.nlm.nih.gov/sites/GeneTests/catalog/disorders
These resources provide information on genetic testing, genetic conditions, and variants in the SGCB gene and related genes.