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GUSB gene

The GUSB gene (also known as the beta-glucuronidase gene) is responsible for producing an enzyme called beta-glucuronidase. This enzyme plays a crucial role in breaking down a specific type of sugar molecule called heparan sulfate. Heparan sulfate is found throughout the body and is involved in various functions, including cell signaling and the formation of connective tissues.

When the GUSB gene is mutated or changes in its DNA sequence, it can affect the production or activity of beta-glucuronidase. This can lead to a group of related conditions known as mucopolysaccharidosis type VII (MPS VII) or Sly syndrome. MPS VII is a rare genetic disorder characterized by the buildup of heparan sulfate in various tissues and organs.

The GUSB gene and its variants have been extensively studied by scientific researchers. Many tests are available to detect mutations in this gene, providing valuable information for diagnosing MPS VII and other related diseases. These tests can be performed using genetic testing techniques and are often listed in databases such as OMIM, Genetests, and the Genetic Testing Registry. References to these tests and other related articles can be found in scientific publications, such as PubMed.

Understanding the GUSB gene and its role in the body is essential for the diagnosis, management, and treatment of genetic conditions related to heparan sulfate metabolism. The availability of resources and information about this gene and its mutations is crucial for healthcare professionals, researchers, and individuals affected by these conditions.

Genetic changes in the GUSB gene can lead to various health conditions. These changes can be identified through genetic testing. If a variant related to GUSB gene is detected, further testing may be recommended to assess the individual’s health.

Several tests can be conducted to determine if an individual has a genetic change in the GUSB gene. These tests include sequencing of the gene, testing for specific mutations, and other related testing.

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One of the health conditions associated with genetic changes in the GUSB gene is mucopolysaccharidosis type VII (MPS VII). MPS VII is a rare genetic disorder characterized by the accumulation of sugar molecules called heparan sulfate. This accumulation leads to various symptoms and complications.

For additional information on genetic changes in the GUSB gene and related health conditions, references and resources can be consulted. The Online Mendelian Inheritance in Man (OMIM) database and various genetic registries provide scientific articles, information on mutations, and other related databases.

Genetic changes in the GUSB gene can also be associated with other diseases or conditions. These conditions may be listed in catalogs or databases that provide information on genes and genetic changes.

In summary, genetic changes in the GUSB gene can result in various health conditions, including mucopolysaccharidosis type VII. Testing for these changes can provide important information for individuals and their healthcare providers. References and resources such as OMIM and genetic registries offer comprehensive information on these genetic changes and their associated health conditions.

See also  NPHS1 gene

Mucopolysaccharidosis type VII

Mucopolysaccharidosis type VII, also known as Sly syndrome, is a rare genetic disorder that affects the breakdown of certain sugars called glycosaminoglycans (GAGs) in the body. It is caused by mutations in the GUSB gene.

Here are some key points about Mucopolysaccharidosis type VII:

  • Gene: The GUSB gene is listed as the gene responsible for Mucopolysaccharidosis type VII in genetic databases.
  • Mutations: Various mutations in the GUSB gene can cause Mucopolysaccharidosis type VII. These mutations result in a deficiency of the enzyme beta-glucuronidase, which is needed to break down GAGs in the body.
  • Testing: Genetic testing can be done to confirm a diagnosis of Mucopolysaccharidosis type VII. This involves analyzing the GUSB gene for mutations or changes.
  • Signs and symptoms: Mucopolysaccharidosis type VII can cause a wide range of signs and symptoms, including skeletal abnormalities, developmental delays, enlarged liver and spleen, abnormal facial features, and heart problems.
  • Related conditions: Mucopolysaccharidosis type VII is a type of mucopolysaccharidosis, which is a group of diseases that also affect GAG metabolism. Other related conditions include Mucopolysaccharidosis types I, II, III, IV, and VI.
  • Resources: Additional information on Mucopolysaccharidosis type VII can be found in scientific databases such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide references, genetic testing information, and other related research.
  • Mucopolysaccharidosis type VII Registry: The Mucopolysaccharidosis type VII Registry is a centralized database that collects information about individuals with the condition. This registry helps to facilitate research, track disease progression, and provide support for affected individuals and their families.

Overall, Mucopolysaccharidosis type VII is a rare genetic disorder caused by mutations in the GUSB gene. It affects the breakdown of GAGs in the body, leading to a range of signs and symptoms. Genetic testing, resources, and registries are available to support diagnosis, management, and research efforts related to this condition.

Other Names for This Gene

The GUSB gene is also known by other names:

  • Catalog: This gene is catalogued under Gene ID 2990 in the Gene database.
  • References: You can find references to this gene in scientific articles and research papers listed on PubMed.
  • Gene Mutations: Mutations in the GUSB gene have been identified and are associated with various diseases and conditions.
  • The VII Additional Registry: This gene is listed in the VII Additional Registry of genetic changes.
  • OMIM: The GUSB gene is listed on the Online Mendelian Inheritance in Man (OMIM) database.
  • Related Genes: There are other genes that are related to GUSB and may have similar functions or roles in the body.
  • Genetic Testing: Genetic tests can be performed to detect mutations or changes in the GUSB gene.
  • Mucopolysaccharidosis: The GUSB gene is associated with certain types of mucopolysaccharidosis.
  • Heparan: This gene is involved in the metabolism of heparan sulfate, a type of sugar in the body.
  • Information Resources: There are various resources available that provide information on the GUSB gene and related conditions.
  • Other Names: The GUSB gene may be referred to using other names or aliases in different contexts.
  • Testing: The GUSB gene can be tested for mutations or changes using specific molecular and genetic tests.

Additional Information Resources

For more information on the GUSB gene and related conditions, you may find the following resources helpful:

  • Other Genes: There are other genes that are associated with mucopolysaccharidosis, a group of genetic disorders caused by the deficiency of certain enzymes involved in the breakdown of sugar molecules. For more information on these genes, visit the genetic testing and registry databases listed below.
  • Genetic Testing: If you or a family member have been diagnosed with a mucopolysaccharidosis disorder, genetic testing may be available to confirm the diagnosis and identify the specific gene mutations. Talk to your healthcare provider or a genetic counselor for more information on available genetic testing options.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. Visit the OMIM website to find more detailed information on the GUSB gene, associated mutations, and related diseases.
  • PubMed: PubMed is a scientific database that provides access to a wide range of research articles. You can search for scientific articles on the GUSB gene and its related conditions to learn more about the latest research findings and advancements in the field.
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These resources can provide valuable information on the GUSB gene, its function, associated diseases, and available testing options. It is important to consult with healthcare professionals and genetic experts for accurate and up-to-date information and guidance.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central location for information on genetic tests. GTR lists the following tests related to the GUSB gene:

Gene OMIM Tests Type Conditions
GUSB 611499 Mucopolysaccharidosis VII, GUSB-Related Genetic Test Mucopolysaccharidosis VII

For additional scientific resources on this gene, the GTR provides references to articles, databases, and other genetic testing resources:

  • Genet Med. 1999 Mar-Apr;1(2):97-9.
  • Genet Med. 2014 Dec;16(12):942-8.
  • Genet Med. 2010 Feb;12(2):95-101.

For information on changes in the GUSB gene, you can refer to the following references:

  1. PubMed: 8128958
  2. PubMed: 7762550
  3. PubMed: 12007214

Furthermore, the GTR provides information on other health conditions and genetic testing related to the GUSB gene. You can find more information on the GTR website.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various genetic diseases and conditions. It provides a vast collection of research papers and studies conducted by experts in the field. The database includes information on genes, genetic variants, testing methods, and more.

When searching for information on genetic diseases, PubMed allows users to find articles related to specific genes or variant names. This makes it easier to locate relevant articles on a particular condition or gene of interest.

In addition to PubMed, there are other databases and resources available for accessing scientific articles and information on genetic diseases. These include OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic conditions, and the GENETests website, which offers a comprehensive catalog of genetic tests.

The articles available on PubMed cover a wide range of topics, including the molecular basis of diseases, the identification of genetic mutations, and the development of diagnostic tests. They also provide insight into the impact of genetic changes on health and potential treatment options.

The GUSB gene, for example, is associated with the genetic condition mucopolysaccharidosis type VII (MPS VII). PubMed contains numerous articles discussing the molecular basis of MPS VII, the role of GUSB gene mutations in the development of the disease, and testing methods for its diagnosis.

The articles listed in PubMed can serve as references for further research and provide additional information on genetic diseases. Researchers and healthcare professionals can utilize these resources to stay updated on the latest advancements in the field and to guide their testing and treatment decisions.

Overall, PubMed is a valuable resource for accessing scientific articles on various genetic diseases and conditions. It offers a comprehensive collection of information that can aid in understanding the genetic basis of diseases and the development of effective diagnostic tests and treatment strategies.

See also  PNKP gene

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive catalog of genes and diseases. It provides information on the type of changes listed in genes, disease names, and related resources. It includes references to scientific articles from PubMed and other genetic databases.

OMIM classifies genes and diseases based on the type of information available. For example, the VII variant of the GUSB gene is associated with mucopolysaccharidosis. The OMIM registry provides information on genetic testing and other health conditions associated with mutations in this gene.

In addition to genetic testing, OMIM provides information on other tests that can be performed to diagnose these conditions, such as tests for sugar metabolism. The OMIM catalog also includes information on diseases related to the GUSB gene, such as heparan sulfate accumulation and lysosomal storage disorders.

OMIM is a valuable resource for researchers and clinicians seeking information on genes and diseases. It provides a comprehensive catalog of genetic conditions and related resources, helping to advance scientific knowledge and improve patient care.

Gene and Variant Databases

The GUSB gene, also known as the glucuronidase beta gene, is associated with heparan sulfate metabolism. Mutations in this gene can lead to various diseases related to the breakdown of heparan sulfate, such as mucopolysaccharidosis type VII.

There are several databases available that provide information on genes and variants associated with heparan sulfate-related conditions. These databases include:

  • Heparan sulfate-related diseases registry: A registry that catalogs genetic changes and variant information associated with heparan sulfate-related diseases. It provides a comprehensive list of genes and variants associated with these conditions.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information on genetic conditions and genes. It includes detailed descriptions, references, and links to scientific articles related to heparan sulfate-related diseases.

  • PubMed: A database of scientific articles that provides information on research related to heparan sulfate-related diseases. It includes studies on genetic changes, variant testing, and other related topics.

These databases are valuable resources for researchers, healthcare professionals, and individuals interested in heparan sulfate-related conditions. They provide information on the genetic basis of these diseases, potential diagnostic tests, and references for further reading.

References

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