The SGCA gene, also known as the sarcoglycan alpha gene, is related to the muscular dystrophy and limb-girdle muscular dystrophy (LGMD) conditions. It is one of the genes responsible for encoding the sarcoglycan proteins that form a complex involved in stabilizing muscle fibers.

The SGCA gene is listed in various genetic databases and resources for further information on its role in diseases and genetic changes. It is associated with sarcoglycanopathies, a group of diseases characterized by mutations in the genes encoding the sarcoglycan proteins. These diseases are a subtype of LGMD and are often diagnosed through genetic testing.

In scientific articles and publications, the SGCA gene and its related proteins are frequently referenced in the context of neuromuscular diseases, particularly muscular dystrophy. The gene is considered an important target for research and potential treatment strategies for these conditions.

Additional information and references on the SGCA gene can be found in databases such as OMIM, Neurol, PubMed, and others. These resources provide a comprehensive catalog of genetic and scientific information on the gene, its associated proteins, and the diseases it is related to.

Genetic changes in the SGCA gene have been found to be related to various health conditions. SGCA is one of the genes that encodes proteins involved in the formation of a complex known as the sarcoglycan complex. Mutations in this gene can lead to the development of muscular dystrophy, specifically a group of conditions known as sarcoglycanopathies.

Various scientific resources provide information on the health conditions related to genetic changes in the SGCA gene. These resources include genetic databases, molecular testing catalogs, and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database and the Global Variome shared LOVD (Leiden Open Variation Database) are examples of genetic databases that list different variants and associated health conditions.

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Muscular dystrophy is one of the main health conditions associated with genetic changes in SGCA. It is a complex group of diseases characterized by progressive muscle weakness and wasting. One specific subtype is limb-girdle muscular dystrophy, which affects the muscles around the hips and shoulders. SGCA-related limb-girdle muscular dystrophy, also known as LGMD2D, is caused by mutations in the SGCA gene.

To learn more about the health conditions related to genetic changes in the SGCA gene, researchers and healthcare professionals can refer to various resources. PubMed, a database of scientific articles, can provide access to relevant research studies. The Online Mendelian Inheritance in Man (OMIM) database and other genetic databases can offer information on specific genetic variants and associated health conditions.

Genetic testing can also be conducted to identify changes in the SGCA gene that may be related to certain health conditions. This type of testing can help diagnose individuals with suspected SGCA-related muscular dystrophies or other related diseases. Genetic testing may involve analyzing the DNA sequence of the SGCA gene or looking for specific mutations or variants using molecular testing techniques.

Overall, understanding the health conditions related to genetic changes in the SGCA gene is important for both scientific research and healthcare purposes. The information available from genetic databases, scientific articles, and other resources can aid in the diagnosis, treatment, and management of individuals with muscular dystrophies and other related disorders.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of genetic muscle disorders characterized by progressive weakness and wasting of the muscles in the hip and shoulder areas. It is caused by mutations in various genes, including the SGCA gene which codes for proteins involved in stabilizing muscle fibers. LGMD can result in difficulties with walking, climbing stairs, and other daily activities.

See also  GM2A gene

Genetic testing is available for LGMD and can help diagnose the specific gene variant or mutation causing the condition. This information is useful for determining prognosis and treatment options. Several resources and databases, such as OMIM and the LGMD Variants & Genes Catalog, provide additional scientific and molecular information on LGMD and related diseases.

References:

  1. https://www.ncbi.nlm.nih.gov/pubmed
  2. https://www.omim.org
  3. https://geneticdatabases.org

Other related names for LGMD include sarcoglycanopathies and neurolimb-girdle muscular dystrophy. These terms refer to specific types of LGMD that are caused by mutations in different genes.

For more information on LGMD and related conditions, individuals can consult their healthcare providers and refer to scientific articles and publications in the field.

  • Additional Resources:
    • LGMD Variants & Genes Catalog
    • OMIM (Online Mendelian Inheritance in Man)
    • PubMed – search for scientific articles on LGMD
  • Genetic Testing:
    • Genetic testing can help identify specific gene variants or mutations causing LGMD.
    • Testing can be done through specialized laboratories and genetic testing providers.

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Summary of LGMD
Gene Protein Function
SGCA Sarcoglycan Stabilizing muscle fibers
Other genes Other proteins Other functions

Other Names for This Gene

  • SGCA
  • Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
  • Adhalin
  • Limb-girdle muscular dystrophy 2D (autosomal recessive)
  • LGMD2D

The SGCA gene, also known as the Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) gene or Adhalin gene, is related to muscular dystrophy and other neuromuscular conditions. Information about these related genes can be found in the OMIM database, which lists additional names and testing resources for SGCA variants. Mutations in the SGCA gene can lead to limb-girdle muscular dystrophy 2D (LGMD2D) and other forms of sarcoglycanopathies.

Testing for SGCA gene variants is available through genetic testing laboratories and can provide valuable information for diagnosing and managing these diseases. Various tests, such as DNA sequencing and mutation detection, can be performed to identify changes in the SGCA gene. Health articles and resources on genetic testing and the SGCA gene can be found in medical databases and publications, such as PubMed and the Genetic Testing Registry.

Additional Information Resources

There are several resources available that provide additional information and references on the SGCA gene and related topics:

  • Molecular Genetics of Duchenne and Limb-Girdle Muscular Dystrophies – This article provides a comprehensive overview of the molecular genetics of muscular dystrophy, including the SGCA gene and its variants. It discusses the genetic changes associated with these diseases and provides references for further reading.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the SGCA gene, its associated diseases, and the genetic changes that contribute to these conditions. OMIM also lists references to scientific articles and studies for those who wish to explore the topic further.
  • GeneTests – GeneTests is a genetic testing registry that provides information on genetic tests available for different genes and diseases. It includes information on SGCA gene testing and lists laboratories that offer these tests.
  • Pubmed – Pubmed is a scientific database that provides access to a vast collection of scientific articles. Searching for “SGCA gene” or “sarcoglycanopathies” on Pubmed will yield a wealth of research articles and studies related to these topics.
  • Neuromuscular Disease Center – This resource provides information on various neuromuscular conditions, including limb-girdle muscular dystrophy and diseases related to the SGCA gene. It offers information on symptoms, diagnosis, treatment, and support resources for individuals and families affected by these conditions.
See also  Kabuki syndrome

These resources can be valuable references for anyone seeking more information on the SGCA gene, muscular dystrophy, and related genetic disorders. They provide a wealth of information for both scientific researchers and individuals interested in learning more about these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about various tests related to the SGCA gene. These tests are often molecular and are used to identify changes or variants in the gene that may be associated with complex neuromuscular diseases.

The SGCA gene is one of the four sarcoglycan genes that code for proteins involved in stabilizing the muscle fibers. Genetic changes in these genes can lead to sarcoglycanopathies and other muscular dystrophy conditions.

Tests listed in the Genetic Testing Registry for the SGCA gene include:

  • SGCA gene variant analysis: This test looks for specific changes or variants in the SGCA gene that are known to be associated with muscular dystrophy.
  • SGCA gene sequencing: This test involves analyzing the entire coding region of the SGCA gene to identify any genetic mutations or changes.
  • SGCA gene deletion/duplication analysis: This test is used to detect large deletions or duplications in the SGCA gene that may be responsible for muscular dystrophy.

Additional tests may be available, and the Genetic Testing Registry provides references to scientific articles, databases, and other resources related to the genetic testing of this gene and its associated diseases. These resources can provide valuable information for healthcare professionals and individuals seeking to learn more about SGCA gene testing and related conditions.

For more information on specific tests and conditions related to the SGCA gene, individuals can access resources such as OMIM, PubMed, and other genetic testing databases listed in the Genetic Testing Registry.

Scientific Articles on PubMed

PubMed is a comprehensive catalog of scientific articles on various topics related to health and diseases. It provides valuable information on genetic changes, proteins, and molecular conditions associated with different diseases. Researchers and healthcare professionals can rely on PubMed to access scientific articles for additional knowledge and research.

For the SGCA gene, PubMed lists a number of related articles that provide insights into the gene mutation, genetic testing, and the associated muscular dystrophy. These articles offer information on the different variants of the SGCA gene, their molecular characteristics, and their impact on muscular fibers. They explore the role of the SGCA gene in limb-girdle muscular dystrophy and other related muscular conditions.

Researchers and healthcare professionals can also refer to other genetic databases such as OMIM (Online Mendelian Inheritance in Man) for more information on the SGCA gene and related diseases. OMIM provides an extensive registry of genetic conditions and genes, including the sarcoglycanopathies associated with the SGCA gene.

PubMed is a valuable resource for accessing scientific articles and references related to the SGCA gene and its role in muscular diseases. It offers a wealth of information on the genetic basis of muscular dystrophy and provides a platform for researchers to share their findings and contribute to the field of neurol-genetic testing and diagnostics.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, scientists, and healthcare professionals interested in studying and understanding genetic diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that contains information on genes and genetic disorders.

OMIM provides a wealth of information related to the SGCA gene, including variant names, molecular genetic references, and other scientific resources. The SGCA gene is associated with a group of inherited muscle disorders known as sarcoglycanopathies, which are characterized by progressive muscle weakness and wasting.

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The catalog lists the various proteins encoded by the SGCA gene, such as alpha-sarcoglycan, which plays a crucial role in stabilizing muscle fibers. The SGCA gene mutations can lead to the development of muscular dystrophy and other related conditions.

OMIM serves as a central hub for genetic information and provides links to other databases and resources. Researchers can access additional information on the SGCA gene and related diseases through OMIM, as well as links to articles from PubMed and other scientific journals.

In addition to providing information on genes and diseases, OMIM also offers resources for genetic testing and diagnostic procedures. The catalog includes information on tests available for the evaluation of SGCA gene mutations and testing for various related disorders.

Healthcare professionals can use the OMIM catalog to access information on specific genetic diseases, understand the molecular basis of these conditions, and stay updated on the latest research and discoveries. The catalog also includes information on the clinical features and management of sarcoglycanopathies and other related disorders.

Overall, the Catalog of Genes and Diseases from OMIM is an invaluable resource for researchers and healthcare professionals interested in studying and understanding genetic diseases. It provides a comprehensive catalog of genes, diseases, and associated information, making it an essential tool in the field of molecular genetics.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working in the field of genetic diseases. These databases provide information about genes and their variants that are associated with various diseases.

By cataloging the genetic changes and mutations in specific genes, these databases help in identifying the genetic basis of diseases and understanding their molecular mechanisms. They also assist in diagnosing and managing genetic conditions by providing access to tests for detecting genetic variants.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM) database. It provides a comprehensive catalog of genes, genetic variants, and associated diseases. OMIM also includes references to scientific articles, PubMed, and other related resources for further reading.

In the context of the SGCA gene and related diseases, there are specific databases that focus on this gene and its variants. For example, the Limb-Girdle Muscular Dystrophy (LGMD) and Sarcoglycanopathies Registry list the names of individuals with mutations in the SGCA gene and their associated conditions.

These databases play a vital role in disease research, allowing scientists and healthcare professionals to collaborate and share information about genetic diseases. They serve as a centralized repository of genetic information, promoting the understanding of diseases and the development of treatments and therapies.

The genetic and variant databases provide a wealth of information that enables researchers to explore the relationships between genes, proteins, and diseases. They serve as essential tools in identifying new therapeutic targets and developing personalized medicine approaches.

Overall, gene and variant databases are crucial resources for the scientific and medical community, facilitating research, diagnosis, and management of genetic diseases. They provide a valuable platform for storing, sharing, and accessing genetic information, contributing to advancements in the field of genetics and personalized healthcare.

References

The following resources were consulted in the research and writing of this article:

  • PubMed: A comprehensive database of scientific articles in the field of medicine and healthcare. It provides access to a wide range of articles related to the SGCA gene and its associated conditions. (PubMed website)
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SGCA gene, its molecular structure, and associated diseases. (OMIM website)
  • GeneTests: A medical genetics information resource that provides genetic testing information for muscular dystrophy and other conditions related to the SGCA gene. It offers information on available testing options and laboratories. (GeneTests website)
  • Registry of Genetic and Rare Diseases Information: A comprehensive database that provides information on rare genetic diseases and related resources. It offers information on skeletal muscle disorders, including sarcoglycanopathies. (Registry website)

Additionally, various scientific articles and research papers were referenced to gather information on the SGCA gene, its genetic variants, and associated diseases. The names of these articles can be found through the provided resources.