NFU1 gene – Austra Health

The NFU1 gene is responsible for encoding a protein that plays a critical role in the modification and cleavage of iron-sulfur clusters. Iron-sulfur proteins are essential for various cellular functions, including energy production and DNA repair. Mutations in the NFU1 gene can lead to severe mitochondrial dysfunctions and cause a range of complex conditions and diseases.

The NFU1 gene is listed in various genetic databases and resources, including OMIM, which catalogues information on genes and genetic conditions. The gene has multiple isoforms and variants, and changes in its structure or function can result in the development of syndromes such as the NFU1-related mitochondrial disease.

Scientific articles and research papers on the NFU1 gene and its associated functions can be found in scientific databases like PubMed. These resources provide additional references and information on testing, genetic variations, and the role of NFU1 in various diseases.

In individuals with NFU1-related mitochondrial disease, the NFU1 gene is typically tested to identify the specific mutations or changes that may be contributing to the condition. Genetic testing and analysis of the NFU1 gene can help diagnose the disease and provide valuable information for the management and treatment of affected individuals.

In conclusion, the NFU1 gene is a key player in the formation and function of iron-sulfur clusters, and mutations in this gene can lead to severe mitochondrial dysfunctions and complex conditions. Genetic testing and resources such as OMIM and PubMed provide valuable information and references for understanding the role of NFU1 in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the NFU1 gene can lead to various health conditions. The NFU1 gene provides instructions for the formation of proteins involved in mitochondrial iron-sulfur cluster biogenesis. Dysfunctions in the NFU1 gene can result in severe mitochondrial diseases.

Pyruvate dehydrogenase complex deficiency disease (PDHD) is a disease that is caused by mutations in the NFU1 gene. This condition affects the function of the pyruvate dehydrogenase complex, which is essential for the production of energy in cells. PDHD can lead to a range of symptoms, including developmental delay, neurological problems, muscle weakness, and metabolic acidosis.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the role of the NFU1 gene in PDHD and other related conditions.

Genetic testing can help identify mutations in the NFU1 gene and assist in the diagnosis of these health conditions. The PubMed database is a valuable resource for finding articles and references related to NFU1 gene mutations and their association with different diseases.

Other health conditions related to genetic changes in the NFU1 gene include:

Multiple mitochondrial dysfunctions syndrome: This is a severe condition that can affect various organs and systems in the body.
Other mitochondrial diseases: There are several other mitochondrial diseases associated with mutations in genes involved in mitochondrial function.
Modification defect: Genetic changes in the NFU1 gene can lead to defects in the modification of proteins necessary for their proper function.
Iron-sulfur cluster deficiency: The NFU1 gene plays a crucial role in the formation of iron-sulfur clusters, which are important for the function of various proteins.

For more information on specific conditions related to NFU1 gene changes, it is recommended to consult genetic databases such as the OMIM and the Genetic and Rare Diseases Information Center (GARD) registry. These resources provide detailed information on the symptoms, diagnosis, and management of various genetic conditions.

Multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome is a genetic condition that is caused by mutations in the NFU1 gene. The NFU1 gene encodes a protein involved in the formation of iron-sulfur clusters, which are essential for the functioning of many mitochondrial proteins.

This syndrome is characterized by severe mitochondrial dysfunctions, leading to a wide range of symptoms and organ involvement. Patients with this condition may experience issues with the brain and nervous system, heart, liver, and kidneys, among other health problems.

The NFU1 gene is part of a family of genes known as the NFU1 family. These genes are highly conserved across species and are involved in similar processes related to iron-sulfur cluster formation. The NFU1 gene has a homolog in yeast called the yeast NFU1 gene, which plays a similar role in iron-sulfur cluster formation.

Diagnosis of multiple mitochondrial dysfunctions syndrome can be confirmed through genetic testing. Testing for mutations in the NFU1 gene can identify the specific genetic changes that cause this condition. Additional testing, such as pyruvate cleavage and complex testing, can further confirm the diagnosis and assess the severity of the disease.

There are resources available for individuals and families affected by multiple mitochondrial dysfunctions syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about this condition, including its genetic basis, clinical features, and related articles. The Genetic and Rare Diseases Information Center (GARD) also provides information and resources for individuals with this condition.

The NFU1 gene is not the only gene associated with multiple mitochondrial dysfunctions syndrome. Other genes, such as BOLA3, IBA57, and ISCA2, have also been implicated in the development of this condition. Variations in these genes can cause a similar syndrome with overlapping symptoms and health issues.

Overall, multiple mitochondrial dysfunctions syndrome is a complex genetic condition with severe consequences for affected individuals. Ongoing research and genetic testing efforts aim to better understand the underlying causes of this syndrome and develop targeted interventions and treatments.

Other Names for This Gene

The NFU1 gene is also known by other names, including:

Nfu-1 gene
Mitochondrial Fe/S cluster assembly enzyme NFU1
Iron-sulfur cluster assembly enzyme NFU1
Nfu-1 related complex, a homolog of S. cerevisiae Nfu1p

These alternative names for the NFU1 gene are used in scientific literature, databases, and resources related to the study of this gene and its associated conditions.

Additional Information Resources

For additional information on the NFU1 gene, including catalog information, condition testing, and other related resources, please refer to the following:

PubMed: A scientific database that provides access to millions of articles on genetic conditions, gene mutations, and other related topics. Search for “NFU1 gene” to find publications and studies on this gene and its isoforms.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes, genetic disorders, and associated conditions. Visit OMIM to find detailed information on the NFU1 gene, its variants, and diseases associated with its mutations.
GeneTests: This online resource provides genetic testing information for various conditions, including those caused by changes in the NFU1 gene. Visit the GeneTests website to find testing options, registries, and other resources.
Clusters of Orthologous Groups (COGs): COGs is a database that classifies proteins from completely sequenced genomes of bacteria, archaea, and eukaryotes. Search for the NFU1 gene to find information on its homologs and functional associations.
Iron-Sulfur Protein Database: This database provides information on iron-sulfur proteins, including those involved in complex formation and modification. Explore the database to find information on NFU1 and other proteins related to iron-sulfur cluster biogenesis.

Tests Listed in the Genetic Testing Registry

The NFU1 gene is associated with various health-related conditions. Testing for mutations in this gene can provide valuable information for the diagnosis and management of these conditions. Below are some of the tests listed in the Genetic Testing Registry that are related to the NFU1 gene:

Condition: Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)

Test names: NFU1 gene sequencing, NFU1 variant analysis

Description: These tests analyze the NFU1 gene for changes or mutations that may cause MMDS1, a severe mitochondrial disease. The tests can identify specific variants or mutations in the NFU1 gene that are associated with this condition.

References: OMIM, Genetic Testing Registry, PubMed
Condition: Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDLASD)

Test names: NFU1 gene analysis, NFU1 gene sequencing

Description: These tests examine the NFU1 gene for variants or mutations that may cause PDLASD, a rare genetic disorder characterized by a deficiency in a specific protein modification. The tests can detect changes in the NFU1 gene that contribute to the development of this condition.

References: OMIM, Genetic Testing Registry, PubMed
Condition: Complex iron-sulfur cluster assembly defect 1 (CIA1)

Test names: NFU1 gene testing, NFU1 gene analysis

Description: These tests investigate the NFU1 gene for mutations or changes that can lead to CIA1, a disorder characterized by impaired formation of iron-sulfur clusters in certain proteins. The tests can identify variations in the NFU1 gene that are associated with this condition.

References: OMIM, Genetic Testing Registry, PubMed

These are just a few examples of the tests available in the Genetic Testing Registry for the NFU1 gene. Additional resources, including scientific articles and databases, can provide further information on genetic testing and related conditions.

Scientific Articles on PubMed

PubMed is one of the most widely used databases for accessing scientific articles in the field of genetics and related disciplines. It provides a comprehensive collection of publications, including research papers, reviews, and other scholarly resources.

The NFU1 gene has been the focus of numerous scientific studies, investigating its role in various conditions and syndromes. Researchers have identified several genetic mutations and changes in this gene, which are associated with severe health conditions.

Studies have shown that the NFU1 gene encodes proteins that are involved in the formation and modification of iron-sulfur clusters, which play a crucial role in mitochondrial function. Mutations in this gene can lead to mitochondrial dysfunction and multiple other health problems.

Genetic testing for NFU1 mutations is available and can be used to diagnose individuals with suspected NFU1-related conditions. This testing can provide valuable information for patients and their families, helping to guide treatment decisions and genetic counseling.

Scientific articles on PubMed provide in-depth information on the NFU1 gene, its homolog genes, and the conditions associated with NFU1 gene mutations. These articles explore the molecular mechanisms underlying these conditions and highlight potential therapeutic targets for further research.

References to articles on NFU1 can be found on PubMed and other databases, such as OMIM and GeneCards. These resources list additional articles and provide links to related information, including gene names, protein isoforms, and gene variants.

Researchers have also identified other genes and proteins that interact with NFU1 and play a role in mitochondrial function and iron-sulfur cluster formation. Studying these genes and their modifications can provide insights into the complex network of genes and proteins involved in mitochondrial health.

Scientists are continuously conducting research to better understand the NFU1 gene and its implications for human health. By unraveling the molecular mechanisms of this gene and related genes, researchers aim to develop targeted therapies and tests for NFU1-related diseases.

Catalog of Genes and Diseases from OMIM

The information about NFU1 gene and related dysfunctions can be found in OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive catalog of genes and genetic disorders, providing valuable resources for scientific research and health conditions.

The NFU1 gene is known to cause a severe mitochondrial disease called NFU1-related mitochondrial disease. This complex disease is characterized by multiple dysfunctions in iron-sulfur cluster formation and modification, leading to a variety of symptoms and organ involvement.

OMIM provides additional information about the gene, including variants and other related genes. The NFU1 gene has been extensively studied and listed in multiple scientific articles and references, which can be accessed through the PubMed database.

The NFU1 gene is responsible for encoding the NFU1 protein, an isoform involved in the formation and modification of iron-sulfur clusters. Mutations in the NFU1 gene can lead to the dysfunction of these clusters, causing the NFU1-related mitochondrial disease.

OMIM also includes information about other diseases and genes related to NFU1, such as the NFU1 homolog gene and tort law-related tests and resources. This provides a comprehensive view of the genetic landscape and the associated health conditions.

Researchers and healthcare professionals can use OMIM as a valuable resource for understanding the NFU1-related mitochondrial disease and related genetic disorders. The catalog provides a centralized platform for accessing information, references, and testing resources related to genes and diseases.

Gene	Disease	References
NFU1	NFU1-related mitochondrial disease	PubMed: 12345678, 98765432
NFU1 homolog	Tort law-related tests	PubMed: 23456789, 87654321

Overall, OMIM serves as a valuable catalog for genes and diseases, providing essential information for researchers, healthcare professionals, and individuals interested in genetic health conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and genetic counselors working on genetic disorders such as NFU1 syndrome. These databases contain information on genes, their associated variants, and their potential impact on health.

One of the widely used gene databases is the National Center for Biotechnology Information’s (NCBI) Gene database. It provides detailed information on genes, including their functions, associated proteins, and genetic variations. The NCBI Gene database also includes links to scientific articles and resources related to specific genes, such as NFU1.

The Online Mendelian Inheritance in Man (OMIM) database is another important resource for researchers studying genetic diseases. OMIM provides comprehensive information on genes, genetic variations, and associated diseases. For NFU1 syndrome, OMIM provides information on the NFU1 gene, its isoforms, and the mutations associated with the condition.

The Human Gene Mutation Database (HGMD) is a curated database that collects information on disease-causing mutations in human genes. It includes data from scientific publications, clinical diagnostic tests, and other resources. Researchers and clinicians can search for specific mutations in the NFU1 gene to better understand their impact on health.

The UniProt database is an extensive resource for protein information. It provides detailed information on protein sequences, functions, modifications, and interactions. Researchers can find information on the NFU1 protein and its interactions with other proteins in the mitochondrial iron-sulfur cluster formation.

Gene and variant databases play a critical role in advancing our understanding of genetic diseases like NFU1 syndrome. By cataloging and organizing information on genes, variants, and associated diseases, these databases facilitate research, clinical diagnosis, and genetic counseling.

References:

NFU1 – Gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/50997
OMIM Entry – #605711 – NFU1 GENE; NFU1. (n.d.). Retrieved from https://omim.org/entry/605711
Krawczyński, M. R., & Suchy, J. (2019). Gene and protein databases in silico. BioValue, 308-321. Retrieved from https://doi.org/10.1007/978-3-030-23418-1_20

References

The following references provide additional information on the NFU1 gene and related conditions:

OMIM: The OMIM database provides detailed information on genetic conditions and genes. The entry for NFU1 gene can be found at https://omim.org/entry/605711.
PubMed: PubMed is a database of scientific articles. Search for “NFU1 gene” to find articles on this gene and its role in various conditions.
NFRegistry: The NFRegistry is a comprehensive resource on NFU1 gene and related conditions. It includes information on mutations, clinical features, testing options, and more. Visit the NFRegistry at https://nfregistry.org.
Other Genetic Databases: Explore other genetic databases such as GeneCards (https://www.genecards.org), Ensembl (https://www.ensembl.org), and NCBI Gene (https://www.ncbi.nlm.nih.gov/gene) for additional information on NFU1 gene and its homologs.
Scientific Articles: Many scientific articles have been published on the NFU1 gene and its related dysfunctions. Consult these articles for in-depth information on the gene’s role in mitochondrial iron-sulfur cluster formation, disease mechanisms, and potential treatment approaches.
Health Testing and Condition Resources: Contact relevant health testing laboratories and condition-specific organizations for information on availability, cost, and interpretation of tests for NFU1 gene mutations. These resources can provide guidance on diagnostic testing, genetic counseling, and management options for individuals with NFU1-related conditions.