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The SPG7 gene, also known as paraplegin, is involved in the progressive genetic disorder known as hereditary spastic paraplegia type 7 (SPG7). This gene provides instructions for making a protein that is part of a complex called the m-AAA protease. The m-AAA protease is found in the mitochondria of cells and is responsible for breaking down proteins that are damaged or no longer needed.

Changes (mutations) in the SPG7 gene can result in a variant of hereditary spastic paraplegia characterized by progressive muscle stiffness (spasticity) and weakness in the legs (paraplegia). This condition may also affect the muscles that control eye movement (ophthalmoplegia). Progressive changes in the SPG7 gene can lead to the development of additional related conditions, including optic atrophy, ataxia, and peripheral neuropathy.

Testing for changes in the SPG7 gene can be helpful in confirming a diagnosis of hereditary spastic paraplegia type 7. Genetic testing may be recommended for individuals with a family history of the condition or for individuals who exhibit symptoms of progressive muscle weakness and stiffness. Testing involves analyzing the DNA sequence of the SPG7 gene to identify any changes or mutations.

References to articles and scientific information about the SPG7 gene and related conditions can be found in external databases such as OMIM, PubMed, and the Seattle Marconi Institute. These resources provide additional information on the genetic characteristics, clinical features, and testing options for hereditary spastic paraplegia type 7.

In addition to genetic testing, other resources available for individuals and families affected by hereditary spastic paraplegia type 7 include support groups, health registries, and catalogs of genetic changes and proteins. These resources can provide valuable information on managing the condition, accessing medical care, and connecting with other individuals and families affected by hereditary spastic paraplegia type 7.

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Genetic changes in the SPG7 gene can lead to various health conditions. These changes can affect the proteins produced by the gene, which play a crucial role in the normal functioning of cells. The SPG7 gene is associated with a type of hereditary spastic paraplegia (HSP), known as SPG7-related HSP.

In SPG7-related HSP, there is a progressive weakness and stiffness of the legs (spastic paraplegia) due to degeneration of certain nerve cells in the spinal cord. This condition is characterized by the gradual onset and progression of spasticity, which can lead to difficulty walking and other motor impairments.

Genetic testing can be done to identify changes in the SPG7 gene and confirm a diagnosis of SPG7-related HSP. This testing can be done through various methods, including sequencing the SPG7 gene or analyzing specific regions of the gene for known changes.

The SPG7 gene is listed in various genetic databases and resources, providing additional information on the gene, its variants, and related health conditions. These resources include the Online Mendelian Inheritance in Man (OMIM) database, scientific articles indexed in PubMed, and external genetic testing catalogs.

The SPG7 gene is also known by other names, including paraplegin, MARC1, and NTE-related esterase, and its related health conditions may be referred to by different names in scientific literature.

By referring to these databases and resources, healthcare professionals and researchers can access valuable information on SPG7-related health conditions, including the genetics, clinical features, and potential treatment options. In addition, these resources provide references to scientific articles and studies for further reading and exploration.

It is important to note that genetic changes in the SPG7 gene can result in a spectrum of health conditions, and not all individuals with SPG7-related HSP will experience the same symptoms or disease progression. It is recommended to consult with a healthcare provider or genetic counselor for personalized information and guidance.

See also  CHD2 myoclonic encephalopathy

Spastic paraplegia type 7

Spastic paraplegia type 7, also known as SPG7, is a genetic condition characterized by progressive spasticity and weakness in the legs (paraplegia). It is caused by mutations in the SPG7 gene.

Spastic paraplegia type 7 is listed as OMIM:607259 in the Online Mendelian Inheritance in Man (OMIM) catalog. Additional information about this condition can be found in scientific articles available through PubMed.

This condition is inherited in an autosomal recessive manner, which means that both copies of the SPG7 gene in each cell have mutations. These mutations result in changes to the paraplegin protein, which is produced from the SPG7 gene.

Common symptoms of spastic paraplegia type 7 include progressive spasticity and weakness in the legs, difficulty walking, and muscle stiffness. Some individuals may also develop additional symptoms such as ophthalmoplegia (weakness or paralysis of the eye muscles).

Genetic testing can be used to confirm a diagnosis of spastic paraplegia type 7. This testing checks for mutations in the SPG7 gene. However, it is important to note that not all mutations in this gene are associated with the condition, and other genetic and environmental factors may influence the development and progression of the disease.

Resources for additional information and support for individuals with spastic paraplegia type 7 and related conditions include the Genetic Testing Registry (GTR), which provides information on available genetic tests and laboratories offering testing services, and the Gene database, which provides information on the SPG7 gene and associated proteins.

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is a genetic disorder characterized by paralysis or weakness of the eye muscles, leading to impaired eye movement. It is often accompanied by additional symptoms such as muscle weakness, spasticity, and changes in muscle tone.

PEO can be caused by mutations in the SPG7 gene, which codes for a protein called paraplegin. This protein is involved in the maintenance of mitochondria, the energy-producing structures within cells. Mutations in the SPG7 gene lead to a dysfunctional paraplegin protein, resulting in mitochondrial abnormalities and impaired energy production.

Diagnosis of PEO involves genetic testing, which can identify mutations in the SPG7 gene. Additional testing may be performed to assess the severity and extent of muscle weakness and spasticity. This can include electromyography (EMG) and nerve conduction studies.

The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the SPG7 gene and its associated conditions. The OMIM entry for the SPG7 gene includes references to scientific articles and resources for further information.

Other genes and proteins listed in the OMIM database are also associated with PEO and related conditions. These include genes encoding other components of the mitochondrial complex, as well as genes involved in various mitochondrial diseases.

The Seattle Structural Genomics Center for Infectious Disease (SSGCID) maintains a catalog of protein structures, including paraplegin. This resource provides information on the structure and function of the protein, which can aid in understanding the molecular basis of PEO.

References to scientific articles on PEO, the SPG7 gene, and related topics can be found in the PubMed database. These articles provide additional information on the genetic basis of PEO, as well as diagnostic and therapeutic approaches.

The Progressive External Ophthalmoplegia Registry and Resource (PEORR) is a centralized database that collects data on patients with PEO and related conditions. This registry serves as a valuable resource for researchers and healthcare providers studying PEO.

In conclusion, progressive external ophthalmoplegia is a genetic disorder characterized by paralysis or weakness of the eye muscles. Mutations in the SPG7 gene, which codes for the paraplegin protein, are a common cause of PEO. Genetic testing, along with additional tests and resources, can aid in the diagnosis and management of this condition.

Other Names for This Gene

  • Gene: SPG7
  • Protein: Paraplegin

The SPG7 gene is also known by other names, including:

  • Paraplegin gene
  • SPG7 protein
  • Progressive external ophthalmoplegia
  • Marconi type spastic paraplegia 7
  • PGI2-associated protein

In scientific literature and databases, you may find references to this gene using these alternative names. This gene is associated with the progressive complex spastic paraplegia 7 (SPG7) disorder.

If you are interested in learning more about the SPG7 gene, there are several resources available. The OMIM database (Online Mendelian Inheritance in Man) provides information on the genetic variation, related diseases, and conditions associated with this gene. The Seattle Genetic Testing Registry offers testing and additional information on SPG7 and other related genes. PubMed and other scientific databases contain articles and studies on the SPG7 gene and its associated proteins.

See also  DNM2 gene

Additional Information Resources

Here is a list of additional resources that provide information on the progressive 7 (SPG7) gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genetic conditions and genes. It provides detailed information on the SPG7 gene, including gene variants, protein changes, and associated health conditions. The OMIM entry for SPG7 can be found by searching for “SPG7” on the OMIM website.
  • Genetic Testing Registry (GTR): GTR is a useful resource for finding genetic tests available for the SPG7 gene. It lists laboratories and tests that are specifically related to this gene, providing information about the type of tests offered, test names, and references to scientific articles.
  • PubMed: PubMed is a database of scientific articles that provides access to a wide range of research papers related to the SPG7 gene. Searching for “SPG7” on PubMed will yield a list of articles discussing various aspects of the gene, including its role in progressive ataxia and spastic paraplegia.
  • External Databases: Several external databases offer information on the SPG7 gene and its protein product, paraplegin. These databases include the Seattle Structural Genomics Center for Infectious Disease (SSGCID) and the Complex Portal. These resources provide data on the structure, function, and interactions of the SPG7 protein.
  • Other Genetic Tests: In addition to testing for the SPG7 gene, there are also genetic tests available for other genes associated with similar conditions, such as spastic paraplegia. These tests can be found through genetic testing laboratories and may provide valuable information for individuals with related symptoms.
  • Additional References: Consult the reference sections of scientific articles and resources mentioned above for further reading on the SPG7 gene and related topics. These references can lead to additional sources of information on this gene and its implications in various diseases.

Tests Listed in the Genetic Testing Registry

  • Progressive 7 genetic testing
  • Scientific tests for variants in the SPG7 gene
  • Testing for related genes and proteins
  • Genetic testing for progressive paraplegia and ophthalmoplegia
  • Tests for changes in the SPG7 gene related to complex spasticity

This section provides information on the tests listed in the Genetic Testing Registry (GTR) that are related to the progressive paraplegia type 7 (SPG7) gene. This includes information on the names of the tests, the genetic conditions they test for, the proteins and genes they are related to, and additional resources and references.

The GTR is a catalog of genetic tests and provides information on the availability of tests and their performance characteristics. It includes information on genetic tests for a wide range of diseases and conditions.

For the SPG7 gene, the GTR lists tests for variants and changes in this gene that are related to progressive paraplegia and ophthalmoplegia. It also includes tests for changes in other genes and proteins that are related to complex spasticity.

References to scientific articles, OMIM entries, and other genetic databases are provided for additional information and resources. These resources can be used to further explore the genetic basis of the conditions related to the SPG7 gene and to find information on other related genes and proteins.

External resources such as PubMed can be used to search for additional articles and research related to the SPG7 gene and its role in progressive paraplegia and ophthalmoplegia. The Seattle Marconi Institute provides testing services for these conditions and can be contacted for more information.

Overall, the GTR provides a comprehensive list of tests and resources for genetic testing related to the SPG7 gene and its associated conditions.

Scientific Articles on PubMed

The SPG7 gene, also known as the paraplegin gene, is involved in multiple complex diseases and conditions. It is associated with progressive spastic paraplegia type 7 (SPG7), also known as the Marconi-type neurogenic muscular atrophy, and spasticity and ophthalmoplegia as a result of changes in the gene.

Scientific articles available on PubMed provide valuable information on the SPG7 gene and its related conditions. PubMed is a comprehensive online database of scientific articles and publications, offering an extensive collection of information on genetics, health, and other related fields.

These articles can be used as external resources for testing and provide references to other genetic databases and resources. They offer insights into the molecular mechanisms associated with the SPG7 gene and its variants, as well as the clinical implications of these changes.

By studying SPG7 and its related proteins, researchers have made significant progress in understanding the pathogenesis and potential treatments for spastic paraplegia and other related conditions. The paraplegin protein, encoded by the SPG7 gene, plays a crucial role in mitochondrial function and proteostasis, making it a significant target for therapeutic interventions.

See also  EIF2B2 gene

The OMIM database, a catalog of human genes and genetic disorders, provides a comprehensive list of information on the SPG7 gene. It includes gene names, protein names, variant names, and associated phenotypes and conditions. The database allows researchers and healthcare providers to access the latest findings and clinical information related to SPG7.

Genetic testing for SPG7 and related genes can help diagnose and classify various forms of spastic paraplegia. The identification of genetic variants in the SPG7 gene can provide valuable insights into disease prognosis, treatment options, and genetic counseling for affected individuals and their families.

The Seattle Genetic Leukodystrophy Disease Registry is a valuable resource for researchers and healthcare providers specializing in SPG7 and related conditions. It contains information on patients with specific genetic variants, clinical profiles, and disease progression. This registry aids in the advancement of research and the development of tailored treatments for individuals with SPG7 and related disorders.

In conclusion, scientific articles available on PubMed, along with other genetic databases and resources, provide crucial information on the SPG7 gene and its implications in various diseases and conditions. They offer insights into the molecular mechanisms, clinical features, and potential treatment strategies for spastic paraplegia and related disorders. Utilizing these resources can help advance our understanding of SPG7 and improve patient care and management.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various genetic conditions, including spasticity and ophthalmoplegia, related to the SPG7 gene.

The SPG7 gene is responsible for encoding a protein called paraplegin. Mutations in this gene can lead to a type of progressive spastic paraplegia known as SPG7-related paraplegia.

OMIM serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information on genetic diseases. The catalog includes information on the genetic changes, clinical features, and related articles from external scientific databases like PubMed.

Here are some key features of the OMIM catalog:

  1. Genes and Diseases: The catalog lists genes and their associated diseases, including SPG7-related paraplegia.
  2. OMIM Numbers: Each gene and disease in the catalog is assigned a unique identifier known as the OMIM number.
  3. Genetic Testing: OMIM provides information on genetic testing resources and laboratories that offer tests for SPG7-related paraplegia and other genetic conditions.
  4. References: The catalog includes references to scientific articles and publications related to SPG7, paraplegia, and other related topics.
  5. Registry of Genetic Conditions: OMIM maintains a registry of genetic conditions and their associated genes, including SPG7-related paraplegia.
  6. Additional Resources: OMIM provides links to additional resources and databases for further information on SPG7-related paraplegia and other genetic conditions.

In conclusion, the OMIM catalog serves as a valuable platform for accessing information on genes, diseases, and related scientific articles. It provides a comprehensive overview of SPG7-related paraplegia and other genetic conditions, aiding in research, diagnosis, and understanding of these complex progressive diseases.

Gene and Variant Databases

The SPG7 gene is associated with progressive conditions such as spastic paraplegia, ataxia, and ophthalmoplegia. To study and understand these diseases, several gene and variant databases are available that provide valuable information on the genetic changes associated with these conditions.

The following are some of the key gene and variant databases related to SPG7:

  • SeattleSPG7GenePanel: This database lists genes associated with spastic paraplegia type 7 (SPG7) and provides information on genetic variants and mutations.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. It includes information on the SPG7 gene and related diseases.
  • PubMed: PubMed is a database of scientific articles and references. It can be used to search for research papers and studies related to the SPG7 gene and associated conditions.
  • External Genetic Testing Registry: This registry provides a list of laboratories offering genetic testing for SPG7 gene variants and related conditions.

In addition to these databases, there are other resources available that provide additional information on the SPG7 gene and related conditions. These include genetic testing resources, health articles, and scientific publications.

By utilizing these gene and variant databases, researchers and healthcare professionals can access valuable information on the SPG7 gene’s function, genetic changes, and their association with progressive conditions such as spastic paraplegia and ataxia.

References

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