The BOLA3 gene is involved in the modification and dysfunction of iron-sulfur proteins in the mitochondria. Iron-sulfur proteins play a crucial role in a variety of cellular processes. Mutations in the BOLA3 gene can lead to various conditions, such as mitochondrial complex III disorder.
The BOLA3 gene, also known as mitochondrial iron-sulfur cluster assembly factor 3, is listed in various scientific resources and databases, including OMIM and PubMed. These resources provide information on the genetic changes and diseases associated with this gene. Testing for BOLA3 gene mutations can help in the diagnosis and understanding of multiple health conditions.
One condition related to BOLA3 gene mutations is called multiple mitochondrial dysfunctions syndrome. This condition is characterized by a variety of symptoms and can affect multiple organ systems. The BOLA3 gene has been identified as one of the genes that can cause this syndrome.
In addition to scientific articles listed in PubMed, the BOLA3 gene can also be found in other references and resources, such as the Genetic Testing Registry. These resources provide further information on the function and role of the BOLA3 gene.
In conclusion, the BOLA3 gene plays a crucial role in the formation and modification of iron-sulfur proteins in the mitochondria. Mutations in this gene can lead to various health conditions, including mitochondrial complex III disorder and multiple mitochondrial dysfunctions syndrome. Understanding the genetic changes and dysfunctions associated with the BOLA3 gene can provide valuable insights into the underlying causes of these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the BOLA3 gene have been associated with several health conditions. These changes can lead to the modification or dysfunction of proteins involved in mitochondrial iron-sulfur cluster biogenesis, causing a range of disorders.
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One of the conditions linked to genetic changes in the BOLA3 gene is multiple mitochondrial dysfunctions syndrome. This complex syndrome encompasses a variety of symptoms and dysfunctions, including neurological abnormalities, developmental delays, and metabolic disorders.
The BOLA3 gene, also known as the BolA-like protein 3, plays a crucial role in the formation of iron-sulfur clusters, which are essential for the function of many proteins involved in various cellular processes.
Information on these health conditions and their genetic links can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic conditions and their associated genes. The PubMed database contains scientific articles and references related to these conditions and the BOLA3 gene.
Genetic testing can be done to identify mutations or changes in the BOLA3 gene. These tests can help diagnose the underlying cause of the condition and provide valuable information for healthcare professionals in managing the patient’s health.
Overall, the health conditions related to genetic changes in the BOLA3 gene are not fully understood. Further research and exploration of the gene’s functions and variants are needed to better comprehend the mechanisms and implications of these genetic changes.
References:
- Online Mendelian Inheritance in Man (OMIM) database: https://www.omim.org
- PubMed database for scientific articles: https://pubmed.ncbi.nlm.nih.gov
- Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome is a condition characterized by a range of genetic disorders related to the BOLA3 gene. Scientific articles and databases, such as OMIM and PubMed, provide information on the various diseases and conditions associated with this gene.
In some cases, mutations in the BOLA3 gene can cause a variant of pyruvate complex formation, leading to multiple mitochondrial dysfunctions syndrome. This condition affects the formation and function of mitochondrial proteins and complexes.
Testing for genetic changes or mutations in the BOLA3 gene can be done through genetic testing services or health registry databases. Additional information and resources can be found through references listed in PubMed and other databases.
Multiple mitochondrial dysfunctions syndrome is not fully understood, and there may be other genes or proteins related to this condition. Iron-sulfur cluster formation and modification are thought to be involved in mitochondrial functions and dysfunctions.
| Genes | Related Genes |
|---|---|
| BOLA3 | Other Genes |
Further research and scientific articles are needed to fully understand the cause and effects of multiple mitochondrial dysfunctions syndrome. However, the information available through scientific publications and databases can provide valuable insights into this complex group of conditions.
References:
- OMIM Database: Multiple mitochondrial dysfunctions syndrome
- PubMed: Scientific articles on multiple mitochondrial dysfunctions syndrome
- Health registry databases for genetic testing and information
Other Names for This Gene
The BOLA3 gene is also known by other names:
- Iron-sulfur cluster assembly 2 homolog (S. cerevisiae)
- Iron-sulfur cluster assembly protein BOLA3
- Prediction of mitochondrial proteins 70
These alternative names are used to refer to the BOLA3 gene in scientific articles and resources such as PubMed, OMIM, and the Genetic Testing Registry.
Additional Information Resources
- The BOLA3 gene is responsible for encoding the BOLA3 protein, which is involved in mitochondrial iron-sulfur cluster assembly. For more information on genes and proteins, you can refer to the National Center for Biotechnology Information’s (NCBI) Gene database.
- Other genes associated with mitochondrial iron-sulfur cluster assembly and related conditions can also be found in the NCBI’s Gene database.
- The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on various genetic conditions, including those caused by mutations in the BOLA3 gene.
- PubMed is a comprehensive database of scientific articles, including those related to the BOLA3 gene and associated conditions. You can search for specific articles and references using relevant keywords.
- Genetic testing can be done to identify mutations in the BOLA3 gene. This testing can help in the diagnosis and understanding of BOLA3-related conditions. Consult with a healthcare professional or genetic counselor for more information on available testing options.
- The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a specialized registry that collects and curates data related to mitochondrial diseases. It provides additional resources and information on genetic conditions involving mitochondrial dysfunctions.
Tests Listed in the Genetic Testing Registry
In the scientific community, the BOLA3 gene is known to be associated with various genetic dysfunctions and diseases. Through references in articles and databases like PubMed, OMIM, and the Genetic Testing Registry, multiple tests have been listed to understand and diagnose conditions related to the BOLA3 gene.
One condition associated with the BOLA3 gene is called multiple mitochondrial dysfunction syndrome. This syndrome is characterized by abnormalities in the formation of the iron-sulfur complexes in mitochondria, which can have a detrimental impact on overall health.
Testing for mutations in the BOLA3 gene can help identify individuals who may be at risk for this condition. Additionally, genetic testing can also be performed on other genes related to mitochondria and iron-sulfur complex formation to further understand the cause of the condition and identify additional genetic changes.
The Genetic Testing Registry provides a comprehensive catalog of tests related to the BOLA3 gene. This registry includes information on testing resources, variant databases, and scientific articles that can provide further information on BOLA3-related conditions and testing.
Overall, testing for BOLA3 gene mutations and related conditions is an important tool in diagnosing and understanding genetic dysfunctions and diseases. By utilizing resources like the Genetic Testing Registry and PubMed, scientists and healthcare professionals can continue to expand our knowledge of the BOLA3 gene and its impact on human health.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the BOLA3 gene and other genes associated with mitochondrial complex diseases. These diseases include conditions such as iron-sulfur dysfunctions, pyruvate formation, and multiple mitochondrial dysfunctions.
Genetic testing and variant analysis are essential tools for the diagnosis of these complex genetic conditions. The BOLA3 gene, along with other related genes, plays a crucial role in the formation of iron-sulfur proteins in mitochondria.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry that provides information on gene-disease associations, as well as gene-gene interactions. OMIM offers a wealth of information on the BOLA3 gene, including mutation names, clinical features, and references to scientific articles.
In addition to OMIM, other databases and resources are available for exploring gene variants and their associated diseases. These resources include, but are not limited to, PubMed, which contains a vast collection of scientific articles related to the BOLA3 gene and mitochondrial complex conditions.
Scientific articles listed on PubMed provide additional information on the BOLA3 gene, its mutations, and their impact on mitochondrial function. These articles contribute to the understanding of complex genetic conditions and the modification of diagnostic tests for affected individuals.
Health professionals and researchers can use the information gathered from these scientific articles to develop better diagnostic and therapeutic strategies for patients with BOLA3-related conditions.
Overall, PubMed serves as a valuable tool for staying updated on the latest research and discoveries related to BOLA3 gene mutations, mitochondrial complex diseases, and the development of genetic testing methods.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic disorders.
The catalog includes a wide range of genes and diseases, with detailed information about their characteristics, inheritance patterns, and clinical features. OMIM provides a comprehensive resource for understanding the underlying genetic causes of various conditions.
Genes listed in the catalog are associated with a variety of conditions, including metabolic disorders, developmental problems, and neurological conditions. For example, the BOLA3 gene is associated with multiple mitochondrial dysfunctions caused by changes in iron-sulfur cluster formation. Mutations in this gene can lead to pyruvate complex and cause health problems.
OMIM provides references to scientific articles and other resources that offer further information about specific genes and associated diseases. These references can be found in the “OMIM References” section of each gene entry.
In addition to gene-specific information, OMIM also includes a registry of genetic tests and testing laboratories. This registry provides information about available tests for specific genes and conditions, helping individuals and healthcare professionals identify appropriate testing options.
OMIM is continuously updated with new information as research progresses and our understanding of genetic conditions improves. It is an invaluable resource for anyone seeking information about genes, conditions, and related research.
Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of various conditions.
Gene and Variant Databases
Proteins are the building blocks of life and play a crucial role in various biological processes. The BOLA3 gene is associated with the production of iron-sulfur proteins, which are important for the proper functioning of cells. Mutations in this gene can lead to mitochondrial dysfunctions and are related to multiple diseases and conditions.
Gene and variant databases provide valuable resources and information about genes, their modifications, and associated diseases. These databases serve as a registry of genes and their variants, allowing researchers and healthcare professionals to access relevant data.
The Online Mendelian Inheritance in Man (OMIM) is a widely used gene database that catalogs genetic disorders and their associated genes. It provides detailed information on gene names, variant names, and the diseases they cause. OMIM also includes scientific references, articles, and additional resources for further exploration.
Gene testing is a common method for diagnosing genetic disorders and conditions. By analyzing an individual’s DNA, specific genes and variants can be identified. Gene and variant databases assist in this process by providing a comprehensive collection of known genetic changes associated with certain conditions.
For example, individuals with pyruvate dehydrogenase complex deficiency, a condition caused by mutations in the BOLA3 gene, can benefit from these databases. By confirming the specific gene mutation, healthcare professionals can better understand the underlying cause of the disease and develop appropriate treatment plans.
In addition to OMIM, other gene and variant databases such as PubMed, GeneTests, and HGVS also contribute to the understanding of genetic health. These databases list genes, variants, and associated conditions, offering a wealth of information for researchers and healthcare providers.
| Database | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man; comprehensive database of genes and genetic disorders |
| PubMed | Searchable database of scientific publications and research articles |
| GeneTests | Database of clinical genetic testing and laboratory resources |
| HGVS | Human Genome Variation Society; database of genetic variants and nomenclature |
Overall, gene and variant databases serve as vital tools in understanding the genetic basis of diseases and conditions. They provide a comprehensive catalog of genes, variants, and associated syndromes, enabling researchers and healthcare professionals to make informed decisions regarding diagnosis, treatment, and further research.
References
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Online Databases: Several online databases provide information on the BOLA3 gene, related conditions, mutations, and variant frequencies. These databases include OMIM, the Human Gene Mutation Database (HGMD), ClinVar, and the Genome Aggregation Database (gnomAD).
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Scientific Articles: Many scientific articles have been published on the BOLA3 gene and its role in various diseases and conditions. These articles can be found on PubMed by searching for “BOLA3 gene” or related keywords.
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Information Resources: The National Institutes of Health (NIH) provides resources and information on genetic testing, gene-disease relationships, and genetic conditions through their Genetic Testing Registry (GTR) and MedlinePlus. These resources can provide additional information on BOLA3 gene testing and related conditions.
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Iron-Sulfur Cluster Diseases: The BOLA3 gene is involved in iron-sulfur cluster formation and dysfunction in mitochondria. Conditions associated with iron-sulfur cluster disorders, such as multiple mitochondrial dysfunctions syndrome (MMDS), may be linked to changes in the BOLA3 gene.
By referencing the modification and dysfunction of the BOLA3 gene, scientific studies have identified its potential role in causing other health conditions. Some of these conditions may include iron-sulfur cluster-related diseases and genetic dysfunctions within mitochondria. The BOLA3 gene is listed in the OMIM catalog and related articles can be found on PubMed. Additional scientific research is required to fully understand the impact of BOLA3 gene changes on proteins and their related diseases.