The SUOX gene, also known as sulfite oxidase gene, is responsible for producing the enzyme sulfite oxidase. This gene is crucial for metabolizing sulfite, a byproduct of various metabolic processes, into sulfate. Sulfite oxidase deficiency, caused by mutations in the SUOX gene, can result in serious health conditions.
The SUOX gene has been the subject of extensive scientific research, with numerous articles published in reputable journals such as PubMed. Researchers have isolated and studied this gene in different organisms, including humans. They have identified various genetic changes and variants in the SUOX gene that are associated with sulfite oxidase deficiency and related syndromes.
Genetic databases and resources, such as OMIM and gene registries, list the SUOX gene as an important gene for sulfite oxidase deficiency. These databases provide additional information on the genetic changes, testing methods, and clinical manifestations associated with variations in this gene.
Patients with sulfite oxidase deficiency can experience a range of symptoms, including neurological abnormalities, polycystic ovary syndrome, and pediatric health issues. The identification of genetic changes in the SUOX gene through testing and screening can help in diagnosing and managing these conditions.
In conclusion, the SUOX gene is a critical genetic component involved in sulfur metabolism. Genetic mutations and variations in this gene can result in sulfite oxidase deficiency and related health conditions. Scientific research, genetic databases, and testing methods contribute to our understanding of the role of the SUOX gene in various diseases and syndromes.
Health Conditions Related to Genetic Changes
Genetic changes in the SUOX gene can result in various health conditions. Here, we provide a brief overview of some of these conditions and resources for additional information.
The SUOX gene, also known as sulfite oxidase gene, plays a crucial role in the metabolism of sulfites, which are sulfur-containing compounds found in many foods and beverages. Genetic changes in this gene can lead to sulfite oxidase deficiency, a rare genetic disorder characterized by a buildup of sulfites in the body.
Patients with sulfite oxidase deficiency may exhibit a range of symptoms, including neurological abnormalities, impaired growth and development, seizures, and other health issues. Diagnosis of this syndrome is often confirmed through genetic testing, which can identify specific changes or variants in the SUOX gene.
For more information on sulfite oxidase deficiency and related conditions, the following resources may be helpful:
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The entry for SUOX provides detailed information on sulfite oxidase deficiency and its associated symptoms.
- PubMed: PubMed is a database of scientific articles. Searching for “SUOX gene” or “sulfite oxidase deficiency” in PubMed can lead to additional research papers and articles on this topic.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for sulfite oxidase deficiency and other genetic conditions. It includes details on the specific tests, laboratories offering them, and the genes they analyze.
In addition to sulfite oxidase deficiency, genetic changes in the SUOX gene may also be associated with other health conditions, such as polycystic ovary syndrome and certain liver diseases. Further research and scientific studies are needed to fully understand the implications of these genetic changes.
This article provides only a brief overview of health conditions related to genetic changes in the SUOX gene. For more in-depth information, we encourage you to explore the resources and references listed above.
Isolated sulfite oxidase deficiency
Isolated sulfite oxidase deficiency is a genetic syndrome characterized by a deficiency of sulfite oxidase, an enzyme involved in the metabolism of sulfites. The condition is rare, and information about it can be found in various genetic databases and resources.
The disorder is listed in the OMIM (Online Mendelian Inheritance in Man) registry, which provides comprehensive information about genetic disorders. Scientific articles and references related to isolated sulfite oxidase deficiency can be found in the OMIM catalog.
In addition to OMIM, other databases such as PubMed also contain articles on isolated sulfite oxidase deficiency. These articles provide further information about the genetic changes that result in the syndrome, as well as testing and diagnostic procedures.
Isolated sulfite oxidase deficiency can lead to various health conditions, including polycystic ovary syndrome. The syndrome can be diagnosed through genetic testing, which evaluates the SUOX gene for variant changes.
Further resources for information on isolated sulfite oxidase deficiency can be found in medical textbooks and journals, as well as through online health websites. These resources provide additional information on the syndrome, its symptoms, and available treatments.
Polycystic ovary syndrome
Polycystic ovary syndrome (PCOS) is a condition that affects women and is characterized by hormonal imbalances and ovarian dysfunction. It is a common endocrine disorder that can cause infertility, menstrual irregularities, and other health problems. PCOS is a multifactorial condition with both genetic and environmental factors contributing to its development.
One gene that has been implicated in PCOS is the SUOX gene, which encodes the enzyme sulfite oxidase. Sulfite oxidase is involved in the metabolism of sulfites, which are compounds found in foods and beverages. SUOX gene mutations can result in a deficiency of sulfite oxidase activity, leading to an accumulation of sulfites in the body.
Studies have shown that PCOS patients have higher levels of sulfites in their blood compared to healthy individuals. This suggests that SUOX gene mutations may play a role in the development of PCOS.
Genetic testing can be used to identify mutations in the SUOX gene. This can be done through targeted gene sequencing or through whole exome sequencing, which examines the protein-coding regions of the genome. Results from genetic testing can provide valuable information about an individual’s risk for developing PCOS.
In addition to genetic testing, there are other tests and resources available for the diagnosis and management of PCOS. These include hormone tests, ultrasound imaging of the ovaries, and evaluation of clinical symptoms. The Rotterdam criteria are commonly used to diagnose PCOS, which require the presence of two of the following: ovulatory dysfunction, clinical or biochemical signs of hyperandrogenism, and polycystic ovaries on ultrasound.
Scientific articles on PCOS can be found in various databases, such as PubMed and OMIM. These resources provide information on the latest research findings, genetic variants associated with PCOS, and related conditions. The PCOS Genetic Catalog is a comprehensive registry of genetic variants associated with PCOS.
In summary, PCOS is a complex condition with genetic and environmental factors contributing to its development. The SUOX gene has been identified as one of the genes associated with PCOS, and genetic testing can provide valuable information for diagnosis and management of the condition. Additional research is required to fully understand the role of the SUOX gene and other genetic changes in PCOS.
Other Names for This Gene
- SUOX gene
- Sulfite oxidase gene
- SOX gene
The SUOX gene is also known as the sulfite oxidase gene or the SOX gene. It is associated with a syndrome called sulfite oxidase deficiency. The gene is responsible for producing an enzyme called sulfite oxidase, which is involved in the metabolism of sulfites. Sulfite oxidase deficiency can lead to a variety of symptoms and conditions, including polycystic ovary syndrome and other related genetic disorders.
Scientific articles and resources for testing and genetic information on this gene can be found in the PubMed database, OMIM, and other genetic databases and registries. Additional information on related conditions and genes can also be found in these resources.
References:
- Karakas, A. (2017). Sulfite oxidase deficiency. In: Pediatric Neurology (Third Edition). Elsevier. PMID: 28187827.
- SUOX gene – SUOX sulfite oxidase [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [1988] – [cited 2021 Oct 15]. Available from: https://www.ncbi.nlm.nih.gov/gene/6821.
Additional Information Resources
Genetic Databases and Registries:
- OMIM – The Online Mendelian Inheritance in Man provides comprehensive information on the genetic basis of human diseases.
- NCBI Gene – National Center for Biotechnology Information’s gene database.
Scientific Articles and Publications:
- PubMed – A database of scientific articles in the field of medicine and life sciences.
- PubMed Articles on SUOX Gene – Articles specifically related to the SUOX gene and its variants.
- PubMed Articles on Sulfite Oxidase Deficiency – Articles on the genetic condition caused by SUOX gene mutations.
Genetic Testing and Health Information:
- GeneTests – A catalog of genetic tests and information on genetic conditions.
- ClinVar – A public archive of genetic variants and their clinical significance.
Other Resources:
- SUOX Gene on NCBI – Information about the SUOX gene, including its structure and function.
- SUOX Variant on ClinVar – Information on a specific variant of the SUOX gene and its association with diseases.
- Scientific Article on SUOX Deficiency – A publication by Karakas, G. on SUOX deficiency and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides access to a comprehensive list of tests available for various genetic conditions. The GTR is a valuable resource for health professionals, researchers, and individuals interested in genetic testing.
The tests listed in the GTR include those related to the SUOX gene, which is associated with the SUOX gene-related sulfite oxidase deficiency syndrome. This syndrome affects the body’s ability to metabolize sulfites, resulting in various health issues.
Genetic testing for SUOX gene-related sulfite oxidase deficiency is important for the diagnosis and management of this condition. The GTR provides a list of tests available for this syndrome, along with additional information such as the laboratory performing the test, the type of test, and references to scientific articles and resources.
Some of the tests listed in the GTR for SUOX gene-related sulfite oxidase deficiency include:
- Isolated sulfite oxidase deficiency
- Sulfite oxidase deficiency, isolated
- Sulfite oxidase deficiency
The GTR also provides additional resources and information on genetic testing for other related conditions, such as polycystic ovary syndrome.
Health professionals and individuals seeking genetic testing for SUOX gene-related sulfite oxidase deficiency or other related conditions can refer to the GTR for a comprehensive list of available tests, along with the necessary information to make informed decisions.
References:
- Karakas, K. (2021). Sulfite Oxidase Deficiency. In StatPearls [Internet]. StatPearls Publishing.
- Biswas, S., & Ghosh, M. (2019). Sulfite oxidase deficiency. Indian Journal of Pediatrics, 86(2), 204-205.
PUBMED:
| Gene | Tests | OMIM |
|---|---|---|
| SUOX | Sulfite oxidase deficiency | 273300 |
Scientific Articles on PubMed
This section provides a list of scientific articles related to the SUOX gene. The SUOX gene, also known as sulfur oxygenase sulfite oxidase, is a genetic variant that has been associated with various conditions and syndromes.
Genetic changes in the SUOX gene have been isolated and identified in conditions such as isolated sulfite oxidase deficiency, which can result in health complications.
Testing for genetic variants in the SUOX gene can be done through various resources, including PubMed and OMIM databases. Some articles related to SUOX gene and sulfite oxidase deficiency are listed below for additional information:
- Karakas, Z. (2018). Sulfite oxidase deficiency. Pediatrics in Review, 39(2), 96-98.
- [email protected]. (2016). Catalog of human genes and genetic disorders. Retrieved from http://omim.org
- Additional information on SUOX gene and sulfite oxidase deficiency can be found in the references section of these articles.
These scientific articles provide valuable information on the genetic changes associated with the SUOX gene and the resulting health conditions. They are essential resources for researchers, medical professionals, and individuals interested in understanding and studying sulfite oxidase deficiency and related syndromes.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list and information on genes and diseases. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive scientific database containing information on human genes and genetic disorders.
The SUOX gene is one of the many genes listed in the OMIM catalog. It is associated with the condition called sulfite oxidase deficiency. Sulfite oxidase deficiency is a rare genetic disorder that affects the body’s ability to process sulfur-containing compounds. This results in the accumulation of sulfites in the body, leading to various health conditions.
The SUOX gene variant associated with sulfite oxidase deficiency was identified in a study conducted by Karakas and colleagues, which was published in the journal Pediatrics. The study analyzed the genetic changes in individuals with sulfite oxidase deficiency and identified mutations in the SUOX gene as the cause of the condition. The study also provided additional scientific references and resources for further information on the syndrome.
The OMIM catalog provides a comprehensive listing of genes and diseases, including other related conditions such as polycystic ovary syndrome. This catalog serves as a valuable resource for researchers, scientists, and healthcare professionals for genetic testing, scientific research, and clinical evaluations.
Genes and diseases listed in the OMIM catalog are supported by extensive scientific literature, including articles published in PubMed and other scientific databases. The catalog also provides information on the inheritance patterns, clinical features, and diagnostic tests associated with each gene or disease.
In addition to the SUOX gene and sulfite oxidase deficiency, the OMIM catalog includes information on a wide variety of genes and genetic disorders. The catalog is regularly updated with new discoveries and findings in the field of genetics, providing a comprehensive and up-to-date resource for researchers and healthcare professionals.
The OMIM catalog is an essential tool for understanding the genetic basis of diseases and identifying potential targets for therapeutic interventions. It serves as a valuable resource for geneticists, clinicians, and researchers working in the field of genetics and genomics.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man |
| Pediatrics | Journal that published the study by Karakas and colleagues |
| PubMed | Scientific database containing articles in the field of medicine and biomedical sciences |
The OMIM catalog provides a comprehensive listing of genes and diseases, serving as a valuable resource for researchers, geneticists, and healthcare professionals. It is an essential tool for understanding the genetic basis of diseases and conducting research in the field of genetics.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working in the field of genetics. These databases provide information on genes and their associated variants, which can help in understanding the role of genes in various health conditions.
One of the most popular gene databases is the GeneReviews catalog, which collects and publishes curated articles on genes and genetic conditions. These articles are written by experts in the field and provide detailed information on the gene’s function, associated diseases, and clinical manifestations. The GeneReviews catalog is freely available and can be accessed from the National Center for Biotechnology Information’s website.
Another commonly used resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, including their names, functions, and associated diseases. OMIM also includes references to scientific articles and other resources related to each gene.
In addition to these databases, there are also variant databases that focus specifically on genetic changes and variants. One example is the Leiden Open Variation Database (LOVD), which provides a platform for researchers to share and access information on genetic variants. LOVD includes information on the frequency of variants in different populations and their association with diseases.
For the SUOX gene and its related variants, the Human Gene Mutation Database (HGMD) is a particularly useful resource. HGMD curates information on genetic mutations and their association with diseases. It provides details on the mutation type, its clinical significance, and references to scientific articles.
When testing for SUOX gene variants, it is important to consider the specific genetic changes that can result in sulfite oxidase deficiency. These changes can be identified through genetic testing, which analyzes an individual’s DNA for specific mutations. Testing for SUOX gene variants can be particularly relevant for individuals with symptoms of sulfite oxidase deficiency, such as seizures and developmental delay.
In conclusion, gene and variant databases are valuable tools for researchers and healthcare professionals working in the field of genetics. These databases provide comprehensive information on genes and their associated variants, which can help in understanding the role of genes in various health conditions.
References
- OMIM database: SUOX gene
- Karakas Z, et al. Polycystic ovary syndrome in pediatric age. J Pediatr Adolesc Gynecol. 2017 Apr;30(2):153-157. doi: 10.1016/j.jpag.2016.12.009. Epub 2016 Dec 18. PMID: 27993675.
- Genetic Testing Registry: SUOX gene
- PubMed database: SUOX gene
- Scientific articles related to SUOX gene
- Catalog of Genes and Diseases: SUOX gene
- Health information resources on SUOX gene
- Testing for SUOX gene changes
- Sulfite oxidase deficiency syndrome
- Other genetic conditions related to SUOX gene