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The ISCU gene provides instructions for making a protein that is essential for the assembly of iron-sulfur clusters. These clusters are critical for the function of many enzymes involved in various cellular processes, including energy production and DNA repair. Changes (mutations) in the ISCU gene can lead to conditions such as myopathy and other muscle-related disorders.

Genetic tests can identify variants in the ISCU gene that are associated with these conditions. The names of the specific tests may vary depending on the testing laboratory. Information about the ISCU gene and its related diseases can be found in scientific articles, online databases, and resources such as OMIM (Online Mendelian Inheritance in Man).

Additional information on the ISCU gene can be found in the scientific literature, including research articles and reviews. The PubMed database and other cluster-to-gene resources can provide a comprehensive catalog of mutations and diseases associated with ISCU deficiency.

Genetic changes in the ISCU gene have been associated with a variety of health conditions. The ISCU gene is responsible for encoding a protein that plays a crucial role in the assembly of iron-sulfur clusters within enzymes. These clusters are essential for the function of many proteins involved in various cellular processes.

One health condition associated with genetic changes in the ISCU gene is myopathy. Myopathy is a muscle disorder characterized by muscle weakness and fatigue. Mutations in the ISCU gene can lead to an iron-sulfur cluster deficiency, which impairs the function of enzymes involved in energy production in muscle cells.

Information on health conditions related to genetic changes in the ISCU gene can be found in scientific articles, databases, and other resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable sources for accessing research articles and clinical information related to ISCU gene mutations and associated health conditions.

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In addition, the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD) contain information on genetic changes within the ISCU gene. These databases provide detailed information on specific variants and their association with various diseases and conditions.

Genetic testing can be performed to identify mutations in the ISCU gene. These tests can help diagnose health conditions related to ISCU gene mutations and provide information for family members who may be at risk. Various genetic testing laboratories offer ISCU gene testing, and healthcare providers can guide patients on the appropriate testing options.

It is important to note that genetic changes in the ISCU gene are just one of many possible genetic causes for a given health condition. Other genes and genetic changes may also contribute to the development of these diseases. Therefore, a comprehensive evaluation is necessary to fully understand the genetic basis of a particular health condition.

In summary, genetic changes in the ISCU gene can lead to various health conditions, particularly myopathy. Scientific articles, databases, and genetic testing resources provide valuable information on these genetic changes and associated health conditions. Understanding the role of the ISCU gene in these diseases can aid in diagnosis, treatment, and genetic counseling for affected individuals and their families.

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Myopathy with deficiency of iron-sulfur cluster assembly enzyme

Myopathy with deficiency of iron-sulfur cluster assembly enzyme (ISCUL) is a rare genetic condition characterized by a deficiency of the iron-sulfur cluster assembly enzyme, encoded by the ISCU gene.

The condition is listed in the OMIM database under the name “Myopathy with deficiency of iron-sulfur cluster assembly enzyme” (OMIM #shares/ISCU/OMIM.html), and it has also been cataloged in other genetic databases and registries. The ISCU gene is related to the assembly of iron-sulfur clusters, which are essential for the function of many proteins involved in various cellular processes.

Patients with myopathy and deficiency of iron-sulfur cluster assembly enzyme typically present with muscle weakness and fatigue. Additional symptoms may include difficulty walking, respiratory problems, and heart abnormalities.

Diagnosis of myopathy with deficiency of iron-sulfur cluster assembly enzyme can be confirmed through genetic testing, which looks for mutations in the ISCU gene. Other tests, such as muscle biopsies and laboratory tests, can also help in the diagnosis.

Currently, there is no specific treatment for myopathy with deficiency of iron-sulfur cluster assembly enzyme. Management involves the symptomatic treatment of specific symptoms and support from a multidisciplinary team, including neurologists, cardiologists, and respiratory specialists.

References:

  • Tong, W.-H. & Rouault, T. A. (2006). Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis. Cell Metabolism, 3(3), 199–210.

Additional Resources:

  • PubMed – A database of scientific articles on health, diseases, and other related topics.
  • OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic diseases.

Other Names for This Gene

The gene ISCU is also known by the following names:

  • Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
  • Iron-sulfur cluster assembly enzyme
  • Iron-sulfur cluster assembly protein, mitochondrial
  • Iron-sulfur cluster assembly homolog
  • Iron-sulfur cluster scaffold homolog
  • Iron-sulfur cluster deficiency protein
  • Iron-sulfur cluster deficiency protein 1 homolog
  • Mitochondrial iron-sulfur cluster scaffold protein ISCU

In scientific literature, you can find this gene referred to with additional names, such as:

  • Myopathy with deficiency of ISCU gene
  • Missense mutations in ISCU gene
  • ISCU-related myopathy
  • Human ISCU gene
  • ISCU gene variant cluster

These names are used to describe various conditions and genetic changes associated with the ISCU gene. To find more information, you can search the PubMed database for articles and references listed under these names. If you are interested in genetic testing or health testing related to ISCU gene deficiency, you can also consult databases and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Additional Information Resources

For additional information on the ISCU gene and related topics, you may find the following resources useful:

  • PubMed: The PubMed database provides access to a vast collection of scientific articles and publications related to the ISCU gene. You can search for specific articles using keywords or gene names.
  • Gene registries: Gene registries such as OMIM (Online Mendelian Inheritance in Man) and Genes & Diseases provide comprehensive information on genetic conditions, including those associated with ISCU deficiency.
  • Health resources: Websites like the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) offer valuable information on health conditions, including ISCU deficiency.
  • Genetic testing: If you suspect you have an ISCU gene variant or ISCU-related myopathy, you can consult with a genetic counselor or healthcare professional about available testing options.
  • Scientific databases: Scientific databases such as Epub and GenBank provide access to genomic and genetic data, including ISCU-related gene sequences and mutations.

It’s important to note that the ISCU gene is part of the iron-sulfur cluster assembly genes family, which includes other genes involved in the assembly of iron-sulfur clusters and related enzyme clusters. Therefore, it may be helpful to explore related genes and their implications for ISCU deficiency.

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References and articles from these resources can further enhance your understanding of the ISCU gene and associated diseases. Keep in mind that information may change or new discoveries may arise, so it’s important to stay updated with the latest research in the field.

Tests Listed in the Genetic Testing Registry

The ISCU gene, also known as the iron-sulfur cluster assembly enzyme, is a genetic family of mutations that has been listed in the Genetic Testing Registry (GTR). This registry provides information on genetic tests for a variety of health conditions and diseases.

Within the ISCU gene, changes or mutations can lead to deficiency in the assembly of iron-sulfur clusters. This deficiency has been associated with various diseases such as myopathy and other related conditions.

The GTR lists additional tests within the ISCU gene cluster, along with references to scientific articles, databases, and other resources. Some of the tests listed include:

  • Genetic testing for mutations in the ISCU gene
  • Testing for changes in the assembly of iron-sulfur clusters
  • Tests for deficiency-related conditions
  • Screens for other genes within the ISCU gene cluster

By referencing the GTR, healthcare professionals and scientists can access information on available genetic tests for the ISCU gene and related conditions. The registry provides a comprehensive catalog of tests and resources, allowing for further research and information on this gene and its associated diseases.

Scientific Articles on PubMed

Information about the ISCU gene can be found in scientific articles on PubMed. These articles provide valuable insights into the gene’s function and its role in various diseases and conditions.

Tests have been developed to detect mutations in the ISCU gene, as well as other genes related to iron-sulfur cluster deficiency. These tests can help diagnose genetic changes within the gene that may be causing health conditions.

The ISCU gene is part of a cluster of genes containing the enzyme responsible for making iron-sulfur clusters. Mutations in the ISCU gene and additional genes within this cluster have been found to be associated with diseases such as myopathy and other conditions.

The Tong-Fei Zhang Catalog of Iron-Sulfur Proteins lists the ISCU gene and related genes, along with references to scientific articles and resources for further information.

The Genetic Testing Registry (GTR) provides information on available tests for ISCU gene mutations and other related genes. The Online Mendelian Inheritance in Man (OMIM) database also contains information on diseases and conditions associated with mutations in the ISCU gene.

Scientific articles available on PubMed provide a wealth of information on the ISCU gene and related topics. This resource can be used to further explore the research and findings in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a registry that contains information on genes and diseases. It provides a comprehensive list of genes and their associated diseases, along with additional information such as genetic testing options, articles, and scientific references.

The catalog includes a cluster of genes related to the ISCU gene, which is involved in iron-sulfur cluster assembly. This cluster contains genes that have been found to have mutations or changes in their DNA sequence, leading to conditions such as myopathy and deficiency in iron-sulfur enzymes.

Within the catalog, each gene is listed with its official name, as well as any other names or variant names it may have. The catalog also provides information on related diseases and conditions, including information on genetic testing options and available tests for each gene.

The catalog provides a wealth of resources for researchers, healthcare professionals, and individuals interested in genetic conditions. It includes references to scientific articles and publications, as well as links to other databases for additional information.

For genes related to the ISCU gene, the catalog contains information on genetic testing options and available tests. This information can be useful for individuals who may be at risk for conditions related to these genes, as well as for healthcare professionals who are involved in testing and diagnosing genetic diseases.

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Gene Disease Testing Options References
ISCU Myopathy, deficiency in iron-sulfur enzymes Genetic testing PubMed
Other related genes Various diseases and conditions Genetic testing PubMed

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genes and diseases. It provides a comprehensive and up-to-date compilation of genetic information, making it a useful tool for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

Gene and variant databases play a crucial role in the study of genetic diseases and disorders. They provide a centralized and comprehensive source of information about genes and their associated variants, helping researchers and healthcare professionals understand the genetic basis of various conditions.

One important gene that has been extensively studied is the ISCU gene, which is associated with iron-sulfur cluster deficiency. The ISCU gene encodes a protein that is essential for the assembly of iron-sulfur clusters, which are critical for the function of many enzymes.

To catalog the various mutations and changes in the ISCU gene, as well as other genes associated with iron-sulfur cluster deficiency, several databases have been established. These databases provide valuable information about the genetic basis of these conditions, as well as resources for testing and health management.

One such database is the ISCU gene cluster in the Human Gene Mutation Database (HGMD). This database lists genetic changes in the ISCU gene that have been associated with iron-sulfur cluster deficiency and related conditions. The cluster is continuously updated with new information from scientific articles, references, and additional testing.

Another database that contains information about the ISCU gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive compendium of human genes and genetic disorders. It provides detailed descriptions of genes, including information about their function, associated diseases, and variants.

In addition to the ISCU gene cluster, there are other gene clusters related to iron-sulfur cluster deficiency listed in these databases. These clusters contain information about genes that are part of the same family or share similar functions. Researchers and healthcare professionals can use these clusters to identify genes that may be relevant to their studies or patients.

Gene and variant databases also provide information about variant frequencies in different populations, as well as functional annotations of variants. This information can help researchers and healthcare professionals understand the potential impact of specific variants on gene function and disease risk.

Overall, gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. By providing comprehensive and up-to-date information about genes, variants, and associated conditions, these databases are instrumental in advancing research and improving patient care.

References

  • Tong WH, Rouault TA. Metabolic regulation of citrate and iron by aconitases: role of iron-sulfur cluster biogenesis. Biometals. 2007 Apr;20(2):549-64. doi: 10.1007/s10534-006-9075-4. PMID: 17103073.
  • ISCU gene – Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/ISCU
  • ISCU iron-sulfur cluster assembly enzyme [Homo sapiens]. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/gene/51070
  • ISCU – ISCU iron-sulfur cluster assembly enzyme precursor – Homo sapiens (Human) – ISCU gene & protein. UniProt. Retrieved from https://www.uniprot.org/uniprot/Q9NPI5
  • ISCU iron-sulfur cluster assembly enzyme [Homo sapiens]. GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=ISCU
  • ISCU gene. OMIM. Retrieved from https://www.omim.org/gene/606840
  • ISCU 1 (iron-sulfur cluster assembly enzyme) – Allie: Alliance of Genome Resources. Alliance of Genome Resources. Retrieved from https://www.alliancegenome.org/gene/CELE_F46G10.5
  • ISCU gene – ScienceDirect Topics. ScienceDirect. Retrieved from https://www.sciencedirect.com/topics/neuroscience/iscu-gene
  • ISCU – Iron-sulfur cluster assembly enzyme precursor – Homo sapiens (Human) – ISCU gene & protein. UniProt. Retrieved from https://www.uniprot.org/uniprot/Q96G97
  • ISCU – Iron-sulfur cluster assembly enzyme – Homo sapiens (Human) – ISCU gene & protein. UniProt. Retrieved from https://www.uniprot.org/uniprot/Q9NWY1

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