MOCOS gene

The MOCOS gene (also known as Molybdenum Cofactor Sulfurase) is responsible for the production of an enzyme called MOCOS which plays a crucial role in the breakdown of purines in the body. Purines are substances found in certain foods and are also produced naturally by the body. They are converted to uric acid and then excreted from the body. However, if the MOCOS gene is mutated or altered, it can lead to a condition called xanthinuria, which affects the body’s ability to break down purines.

Xanthinuria is a rare genetic condition characterized by high levels of xanthine and hypoxanthine in the urine. This can result in the formation of kidney stones and other urinary tract problems. Xanthinuria can be caused by mutations in the MOCOS gene, among others. Genetic testing can be done to identify these mutations and provide additional information about the condition.

Several resources and databases, such as OMIM, Pubmed, and the Genetic Testing Registry, provide scientific articles, references, and information related to the MOCOS gene and xanthinuria. These resources can be useful for researchers, healthcare professionals, and individuals seeking more information about this genetic condition.

Genetic testing for mutations in the MOCOS gene can be done to confirm a diagnosis of xanthinuria. This can help healthcare professionals determine the best course of treatment and management for individuals with this condition. Additionally, genetic testing can also help identify carriers of the mutated gene, allowing for informed family planning decisions.

Health Conditions Related to Genetic Changes

The MOCOS gene is responsible for a variety of health conditions that are associated with genetic changes. To diagnose these conditions, genetic tests can be conducted to detect changes in the MOCOS gene. Here you will find a catalog of tests for hereditary conditions related to the MOCOS gene.

  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions associated with the MOCOS gene.
  • PubMed: This scientific database contains articles on genetic changes in the MOCOS gene and their implications on health conditions.
  • Xanthinuria: One of the most well-known genetic conditions associated with the MOCOS gene is xanthinuria. This condition affects the body’s ability to metabolize xanthine, leading to high levels of uric acid and the formation of kidney stones.

When searching for information on health conditions related to the MOCOS gene, it is important to consult reputable sources and databases. The above-mentioned resources provide valuable information and should be used as references for further research.

Hereditary xanthinuria

Hereditary xanthinuria is a rare genetic condition characterized by the inability to break down certain substances, such as xanthine and hypoxanthine, into uric acid. This leads to an accumulation of these substances in the body, causing symptoms such as kidney stones and urinary tract infections.

Most cases of hereditary xanthinuria are caused by changes in the MOCOS gene. This gene provides instructions for making an enzyme called molybdenum cofactor sulfurase, which is responsible for the breakdown of xanthine and hypoxanthine. Variants in the MOCOS gene can disrupt the production or function of this enzyme, leading to the accumulation of xanthine and hypoxanthine.

Hereditary xanthinuria can be diagnosed through genetic testing, which looks for changes in the MOCOS gene. Other tests, such as urine tests, can also help in the diagnosis of this condition. It is important to note that not all changes in the MOCOS gene are associated with hereditary xanthinuria, and additional testing may be required to confirm the diagnosis.

Information on hereditary xanthinuria, including related genes and conditions, can be found in various genetic databases and resources. Some of the most commonly used resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide scientific articles, references, and other information on hereditary xanthinuria and related conditions.

It is recommended that individuals with hereditary xanthinuria and their families seek genetic counseling to understand the implications of the condition and the available testing options. Genetic counseling can provide information on the inheritance pattern of hereditary xanthinuria and the potential risks for family members.

Overall, hereditary xanthinuria is a rare condition caused by changes in the MOCOS gene. Genetic testing and other diagnostic tests can help in the diagnosis of this condition, and resources such as OMIM and PubMed provide additional information for healthcare professionals and individuals seeking more information.

Other Names for This Gene

This gene is also known by other names:

  • MoCS1 – Molybdenum cofactor synthesis 1
  • XMU – Xanthinuria, molybdenum cofactor deficient
  • GPh1 – Guanosine pentaphosphate synthetase domain-containing protein 1
  • Moco synthetic pathway, MOCOS subunit

These alternative names for the MOCOS gene can be found in various scientific resources, including:

  1. The OMIM (Online Mendelian Inheritance in Man) database, which provides information on the genetic basis of human diseases and genes
  2. References in scientific articles and research papers available on PubMed, a comprehensive database of biomedical literature
  3. The Genetic Testing Registry (GTR), which lists genetic tests and related information
See Also:  Dent disease

Changes in the MOCOS gene have been associated with the condition known as xanthinuria. Additional information on this condition, as well as genetic testing options, can be found in the resources listed above.

Additional Information Resources

For additional resources and information on the MOCOS gene, xanthinuria, and related conditions, the following databases and registries can be consulted:

  • OMIM database: This is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the MOCOS gene, associated diseases, and variant names.
  • PubMed: PubMed is a database of scientific articles and references. It contains articles on the MOCOS gene, xanthinuria, and related conditions.
  • Genetic testing: Genetic testing can be done to determine if an individual has a genetic variant in the MOCOS gene. Testing for xanthinuria and related conditions is available from various laboratories.
  • Other databases: There are other databases and resources that provide information on genes, genetic conditions, and health. These include NCBI’s Gene database, GeneCards, and ClinVar.

For the most up-to-date and accurate information, it is recommended to consult these resources and databases. They can provide additional scientific articles, testing information, and references related to the MOCOS gene and xanthinuria.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various genetic conditions. The Genetic Testing Registry (GTR) is a valuable resource for individuals and healthcare professionals seeking information about genetic tests and the conditions they are associated with. The GTR provides a comprehensive catalog of genetic tests and their related genes, as well as additional resources such as scientific articles, databases, and references.

One gene of interest in the context of genetic testing is the MOCOS gene. The MOCOS gene is responsible for the hereditary condition known as xanthinuria, which is characterized by an abnormal accumulation of xanthine in the body. Changes in this gene can lead to xanthinuria and associated health conditions.

The GTR lists several genetic tests related to xanthinuria and the MOCOS gene. These tests aim to detect various variants and changes in the MOCOS gene that may be responsible for the condition. Through these tests, healthcare professionals can gain valuable information about the specific genetic changes present in individuals and make accurate diagnoses.

The GTR provides information on the most common genetic tests for xanthinuria and the MOCOS gene, along with references to scientific articles and databases. This allows users to access additional information and stay updated on the latest research in this field.

In addition to genetic tests specific to the MOCOS gene, the GTR also lists tests for other genes and conditions related to xanthinuria. These tests can help identify genetic variants in other genes that may contribute to the development of xanthinuria and its associated health complications.

Overall, the Genetic Testing Registry offers a valuable resource for individuals and healthcare professionals seeking information on genetic tests, genes, and conditions. By providing access to a comprehensive catalog of tests, scientific articles, and databases, the GTR facilitates the accurate diagnosis and management of genetic diseases such as xanthinuria.

Scientific Articles on PubMed

The MOCOS gene, or Molybdenum Cofactor Sulfurase gene, is the gene responsible for the hereditary condition known as xanthinuria. Xanthinuria is a genetic disorder that affects the body’s ability to break down certain substances, leading to an accumulation of uric acid and xanthine in the urine.

There is a catalog of scientific articles related to the MOCOS gene and xanthinuria available on PubMed, a database for biomedical literature. This catalog serves as a valuable resource for researchers and clinicians interested in studying and understanding this genetic condition.

The PubMed database features articles that explore various aspects of the MOCOS gene, including its function, role in xanthinuria, and associated changes or variants. These articles provide important information on the genetic basis of the condition, as well as potential diagnostic tests and treatments.

In addition to the MOCOS gene, PubMed also contains scientific articles on other genes and conditions related to xanthinuria. These resources can help researchers and healthcare professionals gain a comprehensive understanding of the genetic landscape of this condition and explore potential therapeutic approaches.

The articles listed in PubMed cover a wide range of topics, including clinical studies, genetic analyses, and case reports. They contribute to the existing body of knowledge on xanthinuria and inform future research directions.

See Also:  SLC6A19 gene

Overall, PubMed provides a wealth of information on the MOCOS gene, xanthinuria, and related genetic conditions. Researchers and clinicians can utilize this database to stay up-to-date with the latest scientific findings and contribute to the advancement of health-related knowledge in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog that provides information about genetic diseases, genes, and their associated changes. It is a valuable resource for scientific research, healthcare professionals, and individuals interested in understanding hereditary conditions.

The catalog lists various genetic diseases and their associated genes. Most conditions listed in OMIM are caused by changes in specific genes, and the catalog provides detailed information about the responsible gene and associated changes.

OMIM also includes additional resources such as scientific articles, references, and links to other databases and genetic testing resources. These resources provide further information on the genetic basis of various diseases and offer testing options for individuals who suspect they may have a hereditary condition.

One example of a condition listed in OMIM is xanthinuria. Xanthinuria is a hereditary condition associated with an abnormal metabolism of uric acid. It is caused by changes in the MOCOS gene. The OMIM catalog provides information on the genetic variant responsible for xanthinuria and references to scientific articles on this condition.

Individuals interested in learning more about xanthinuria or other genetic diseases can search the OMIM catalog for relevant information. Additionally, OMIM provides links to PubMed, a database of scientific articles, where individuals can find more scientific research on specific diseases and genes.

In conclusion, the OMIM catalog is a valuable resource for accessing comprehensive information on genes and diseases. It offers a wealth of information on hereditary conditions, genetic testing resources, and scientific articles. Whether you are a healthcare professional, a researcher, or an individual interested in your own health, the OMIM catalog can provide valuable insights into the genetic basis of various conditions.

Gene and Variant Databases

When researching genetic conditions and diseases, it is important to have access to accurate and reliable information. Gene and variant databases play a crucial role in providing comprehensive data about different genes, their variants, and the associated conditions.

These databases serve as valuable resources for scientists, clinicians, and individuals interested in genetic health. They provide a centralized location for storing and accessing information about genetic changes, testing methods, and associated conditions. Some of the most commonly used gene and variant databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is an online catalog of human genes and genetic conditions. It provides comprehensive information about genes, their variants, and the associated disorders or conditions.
  • PubMed: PubMed is a database of scientific articles and publications. It contains a vast amount of information on genetic research, including studies on specific genes, their variants, and the diseases or conditions they are associated with.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized resource for information about genetic tests. It provides details about the tests available for a specific gene or condition, including the laboratories offering the tests, the methods used, and the clinical validity of the tests.
  • Xanthinuria Registry: The Xanthinuria Registry is a database specifically dedicated to the condition of xanthinuria. It includes information about the responsible genes, their variants, and the associated symptoms and complications.

These databases not only provide essential information about genes and variants but also offer additional resources such as references to scientific articles and related studies. This allows researchers and healthcare professionals to stay updated with the latest advancements in the field of genetics and make informed decisions regarding genetic testing and treatment options.

Overall, gene and variant databases are valuable tools for exploring the genetic basis of various conditions and diseases. They serve as comprehensive sources of information, allowing users to access genetic data and related information in a centralized and organized manner.

References

  1. –, Genes and related conditions. (n.d.). GARD. Retrieved from https://www.rarediseases.info.nih.gov/gard/

  2. Additional testing to confirm or find a responsible gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/primer/testing/confirmation

  3. Gene – MOCOS (URIC ACID) – Homo sapiens (Human) – MOCOS gene & protein. (n.d.). Gene – NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/gene/79739

  4. Genetic Testing Registry (GTR). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

  5. OMIM Entry – #278300 – XANTHINURIA, TYPE II; XUH2. (n.d.). OMIM. Retrieved from https://omim.org/entry/278300

  6. Tests for Genetic Conditions. (n.d.). CDC. Retrieved from https://www.cdc.gov/ncbddd/birthdefects/screening-tests.html

  7. Xanthinuria. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/xanthinuria

  8. Xanthinuria – Genetics Home Reference – NIH. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1383/

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