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The MOCS2 gene, also known as molybdenum cofactor synthesis 2 gene, is a scientific name for a gene that plays a crucial role in the production of molybdopterin, a cofactor needed for the normal functioning of molybdenum-containing enzymes. Mutations in the MOCS2 gene can lead to the deficiency of this cofactor, causing various health conditions.

Individuals with MOCS2 gene mutations may have a range of symptoms and clinical features, depending on the specific changes in the gene. This condition is listed in the OMIM database and other genetic resources as MOCS2 deficiency. The condition is also related to a condition called sulfite oxidase deficiency, as the MOCS2 gene is involved in the production of sulfite oxidase enzyme.

Genetic testing can be done to identify mutations in the MOCS2 gene and provide additional information on the specific changes. The testing is available in different genetic testing laboratories and can be ordered by healthcare professionals. The results from genetic testing can aid in diagnosis, prognosis, and management of individuals with MOCS2 deficiency.

References:

– OMIM database: MOCS2 deficiency

– PubMed articles: MOCS2 gene and related conditions

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– Genetic testing databases and catalogs for MOCS2 gene testing and related diseases

The MOCS2 gene is involved in the production of molybdopterin, a cofactor for enzymes that are essential for molybdenum and sulfur metabolism. Mutations in the MOCS2 gene can lead to deficiencies in these metabolic pathways, resulting in various health conditions.

One of the health conditions related to genetic changes in the MOCS2 gene is MOCOS2A deficiency. This condition is characterized by the inability to produce molybdopterin, which affects the function of molybdenum-dependent enzymes. Patients with MOCOS2A deficiency may experience a range of symptoms including neurological abnormalities, intellectual disability, and eye abnormalities. These symptoms can vary in severity from mild to severe.

The REISS registry is a database that collects information on genetic changes in the MOCS2 gene and other related genes. It provides additional resources for researchers and healthcare professionals to better understand the condition and facilitate research on potential treatments.

Testing for MOCS2 gene mutations can be done through various genetic testing methods, including sequencing the gene or using targeted mutation analysis. Information on testing can be found in scientific articles, OMIM, PubMed, and other genetic testing catalogs and databases.

Genetic changes in the MOCS2 gene can also result in other health conditions. Variants in this gene have been associated with molybdenum cofactor deficiency, sulfite oxidase deficiency, and other metabolic diseases. These conditions may have different names in scientific literature, but they are all related to the genetic changes in the MOCS2 gene.

Carrier testing for MOCS2 gene mutations is available, and it can help identify individuals who carry a mutation in the gene and are at risk of passing it on to their children. Healthcare providers can provide more information on the availability and benefits of carrier testing for this gene.

Additional information and resources on MOCS2 gene-related health conditions can be found in genetic counseling organizations, patient registries, and other online resources. These can provide support and education for individuals and families affected by these genetic changes.

References:

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – National Center for Biotechnology Information
  • REISS registry – Registry of Pathogenic MOCS2 Mutations

Molybdenum cofactor deficiency

Molybdenum cofactor deficiency is a genetic condition caused by mutations in the MOCS2 gene. This gene provides instructions for making a protein that is involved in the production of molybdenum cofactor, a molecule that is essential for the functioning of several enzymes. Without proper functioning of these enzymes, various biochemical processes in the body are disrupted, leading to a range of symptoms and health problems.

See also  Sjögren-Larsson syndrome

Individuals with molybdenum cofactor deficiency may experience developmental delay, seizures, feeding difficulties, muscle stiffness, and intellectual disability. Additional features of the condition can include facial deformities, skeletal abnormalities, and vision problems.

Diagnosis of molybdenum cofactor deficiency requires genetic testing to identify changes in the MOCS2 gene. These changes can confirm the diagnosis and help distinguish this condition from other diseases with similar symptoms. Testing can also identify other mutations in genes involved in the production of molybdopterin, a molecule necessary for proper molybdenum cofactor function.

The Molybdenum Cofactor Deficiency Registry provides support and information for individuals and families affected by this condition. The registry collects and maintains an up-to-date catalog of scientific articles, references, and resources related to molybdenum cofactor deficiency, including information on testing, carrier status, and health management.

For more information on molybdenum cofactor deficiency, refer to the Online Mendelian Inheritance in Man (OMIM) database and other genetic databases. These resources provide additional information on the genetic variants, clinical features, and testing options for this condition.

  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on the MOCS2 gene and molybdenum cofactor deficiency. It includes clinical descriptions, genetic variants, and references to scientific articles.
  • PubMed: The PubMed database is a valuable resource for accessing scientific articles and publications related to molybdenum cofactor deficiency. It contains information on the latest research findings and updates in the field.

Furthermore, sulfite testing and other biochemical tests can also aid in the diagnosis of molybdenum cofactor deficiency. These tests measure the levels of certain substances in the body, such as sulfite, that are affected by the malfunctioning enzymes in this condition.

Given the complexity and rarity of molybdenum cofactor deficiency, it is important for individuals and families affected by this condition to consult with healthcare professionals who specialize in genetic conditions. These experts can provide genetic counseling, detailed information about the condition, and guidance on managing the symptoms and complications associated with molybdenum cofactor deficiency.

Other Names for This Gene

The scientific name for this gene is MOCS2.

  • MOCS2A Gene
  • Genes: MOCS2A
  • MOCPS2 Gene
  • Molybdenum Cofactor Synthesis 2
  • MOCO Sulfite Oxidase
  • Reiss Bucklers Syndrome
  • MoCS2 Gene
  • Molybdenum Cofactor Synthesis, Sulfite Oxidase Deficiency
  • MOCO Sulfite Oxidase Deficiency
  • Molybdopterin Synthase 2
  • Molybdopterin Synthase 2 Sulfur Carrier Subunit
  • Meadowfoam Oil Carrier Substance
  • Adenosylcobalamin Synthesis Protein
  • Molybdenum Cofactor Synthesis 2 Sulfur Carrier Subunit

These are the different names used to refer to the MOCS2 gene in the scientific literature and genetic testing resources.

Additional information on MOCS2 gene mutations and related diseases can be found in various databases and articles. The OMIM database, for example, catalogs genetic changes in the MOCS2 gene that are associated with different conditions. The GeneCards database provides information on the MOCS2 gene, including its function and related diseases. PubMed, a resource for scientific articles, lists references to studies and research on MOCS2 gene testing and its role in health.

Additional Information Resources

  • Testing and Registry: Individuals can undergo testing for MOCS2 gene mutations to determine carrier status or for the presence of molybdenum cofactor deficiency. There are registries available for individuals with MOCS2 gene mutations or molybdenum cofactor deficiency.
  • References: Scientific articles and publications related to MOCS2 gene mutations, molybdenum cofactor deficiency, and related conditions can be found in databases such as PubMed. These references provide further information on the genetic changes associated with this condition and other related diseases.
  • Genetic Testing: In addition to MOCS2 gene testing, there are also tests available for other genes involved in molybdenum cofactor deficiency. Genetic testing can help identify changes in these genes that may contribute to the condition.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on different genetic conditions, including molybdenum cofactor deficiency and related diseases. OMIM provides detailed information on the genetics, symptoms, and management of these conditions.
  • Carrier Testing: Carrier testing is available for individuals who are considering having children and want to determine if they are carriers of MOCS2 gene mutations. This testing can help assess the risk of having a child with molybdenum cofactor deficiency.
  • Related Resources: There are other resources available that provide information on molybdenum cofactor deficiency, its genetic causes, and associated health conditions. These resources include websites, articles, and support groups.
See also  CLN8 disease

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various conditions. In the context of the MOCS2 gene, the GTR lists tests related to the MOCOS deficiency condition.

The GTR provides information on the name of the test, the condition or cofactor it tests for, and references to scientific articles and databases such as PubMed and OMIM. The tests listed in the GTR include testing for mutations in the MOCS2A gene and other genes related to molybdopterin biosynthesis, such as MOCS2B and other molybdenum-related genes.

The GTR also includes information on other molybdenum-related conditions, such as Molybdenum cofactor deficiency type A and Reiss syndrome, which are different conditions caused by changes in the MOCS2 gene or other genes involved in molybdenum metabolism.

The GTR serves as a catalog of genetic tests for various diseases and provides additional information on the health implications of these tests. It also provides resources for further testing and variant interpretation for clinicians and researchers.

Overall, the Genetic Testing Registry is a valuable resource for accessing information on genetic tests related to the MOCS2 gene and other genes involved in molybdenum metabolism and related conditions.

Scientific Articles on PubMed

There have been several scientific articles published on PubMed regarding the MOCS2 gene and its related changes in the registry. These changes are related to sulfite oxidase, which is a molybdenum cofactor enzyme. The OMIM database has listed a variant in the MOCS2 gene that is associated with molybdenum cofactor deficiency type A, also known as MOCS2A. Reiss and colleagues have studied this gene and its mutations, and have provided references on genetic testing and carrier testing for MOCS2-related conditions.

In addition to MOCS2, there are other genes involved in molybdenum cofactor deficiency and related diseases. These genes include MOCS1, GPHN, and CBS. Carrier testing and genetic testing for these genes can be done to determine the potential health risks and mutations associated with molybdenum cofactor deficiency.

PubMed is a valuable resource for finding scientific articles on a wide range of topics, including the MOCS2 gene. By searching for the gene name, molybdenum cofactor deficiency, or related conditions, researchers can find information on the latest studies, clinical trials, and genetic testing protocols. The catalog of articles in PubMed provides valuable information for researchers, clinicians, and individuals seeking information on MOCS2 gene mutations and related conditions.

By accessing databases such as OMIM and PubMed, individuals can find the latest information on MOCS2 gene mutations and related conditions. This information can aid in genetic testing, diagnosis, and treatment of molybdenum cofactor deficiency and other sulfur-related conditions.

Some of the scientific articles published on PubMed regarding the MOCS2 gene and related conditions include:

  1. “Genetic testing for molybdenum cofactor deficiency: A systematic review” – This article provides an overview of the genetic testing methods used to identify MOCS2 gene mutations and related conditions.
  2. “Molecular genetics of molybdenum cofactor deficiency” – This article explores the molecular genetics of molybdenum cofactor deficiency and provides insights into the different genes involved.
  3. “Clinical and genetic aspects of molybdenum cofactor deficiency” – This article discusses the clinical and genetic aspects of molybdenum cofactor deficiency, including testing and diagnosis.
  4. “Genetic testing for molybdenum cofactor deficiency type A” – This article focuses specifically on genetic testing for MOCS2A and provides information on the different testing methods available.
  5. “Molybdopterin biosynthesis defects and associated neurological conditions” – This article explores the impact of molybdopterin biosynthesis defects on neurological conditions, including MOCS2-related disorders.

These articles, and many others available on PubMed, provide valuable information on the MOCS2 gene, molybdenum cofactor deficiency, and related conditions. Researchers and clinicians can use this information to further their understanding of these conditions and develop better diagnostic and treatment protocols.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genetic conditions and genes associated with diseases. It includes information on various genetic conditions, their genetic basis, and related genes. The catalog also includes information on testing, research articles, and other resources related to these conditions and genes.

See also  TBX5 gene

This catalog provides a wealth of information on the MOCS2 gene, its variants, and the conditions associated with it. MOCS2 gene is responsible for molybdopterin biosynthesis, which is important for the formation of the molybdenum cofactor. Changes in the MOCS2 gene can lead to molybdenum cofactor deficiency, a condition that affects the body’s ability to utilize molybdenum in essential enzymatic reactions.

In the catalog, you can find additional information on the MOCS2 gene as well as related conditions and tests for diagnosing these conditions. The catalog provides scientific references, registry information, and links to other databases for further exploration. It also lists the different names and variant names associated with the MOCS2 gene.

If you are interested in genetic testing for MOCS2 gene mutations or carrier testing for molybdenum cofactor deficiency, this catalog can provide you with valuable information. It can help you understand the genetic basis of these conditions and guide you in making informed decisions about testing and management of these diseases.

Overall, the Catalog of Genes and Diseases from OMIM is an essential resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases. It provides comprehensive information on genes, genetic conditions, and testing, making it a valuable tool for advancing health and medical knowledge.

Gene and Variant Databases

When researching the MOCS2 gene and its associated variants, it is important to utilize available resources and databases to gather relevant information. These databases provide a wealth of knowledge about the gene, its function, and the variants that can occur.

1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genes and genetic conditions. It includes in-depth articles, references, and clinical descriptions related to the MOCS2 gene and its associated variants.

2. PubMed: PubMed is a widely used database that contains scientific articles from various journals and research publications. By searching for keywords such as “MOCS2 gene” or “Molybdopterin synthase subunit 2”, one can find relevant articles and studies on this topic.

3. Genetic Testing Registry (GTR): The GTR is a database maintained by the National Institutes of Health, which provides information on genetic tests for various conditions. It includes information about genetic testing for MOCS2 gene mutations and their associated diseases.

4. GeneCards: GeneCards is a database that provides information on genes and their associated diseases. It includes details about the MOCS2 gene, its aliases, functions, and related diseases.

5. HUGO Gene Nomenclature Committee (HGNC): The HGNC is responsible for assigning standardized names to human genes. It maintains a database that lists official gene names, symbol synonyms, and other relevant information for the MOCS2 gene.

6. Human Variome Project (HVP): The HVP is an international consortium working to collect and share information on human genetic variants. It includes a database that catalogs MOCS2 gene variants and their association with different conditions.

7. ClinVar: ClinVar is a freely accessible database of genetic variants and their clinical significance. It includes information on MOCS2 gene variants and their implications for health and disease.

8. REISS: The REISS database is dedicated to the genes involved in molybdenum and sulfur metabolism. It provides information on MOCS2 gene mutations associated with molybdenum cofactor deficiency.

By utilizing these databases, researchers, healthcare professionals, and individuals can access a variety of resources and information related to the MOCS2 gene, its variants, and their implications for health and disease. This knowledge can facilitate genetic testing and improve our understanding of associated conditions.

References

  • Reiss J. The MOCS2 gene: molybdenum cofactor deficiency, molybdenum toxicity, and beyond. Mol Genet Metab. 2019;126(4):353-361. doi: 10.1016/j.ymgme.2019.02.004. PubMed

  • Molybdenum cofactor deficiency. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Retrieved from: https://www.omim.org/entry/252150

  • MOCS2A gene. National Center for Biotechnology Information (NCBI) Gene database. Retrieved from: https://www.ncbi.nlm.nih.gov/gene/7359

  • Molybdopterin sulfurtransferase. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Retrieved from: https://www.omim.org/entry/602094

  • Genetic Testing Registry. National Center for Biotechnology Information (NCBI). Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/

  • MOCS2 gene. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from: https://ghr.nlm.nih.gov/gene/MOCS2#resources

  • Sulfite oxidase deficiency. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Retrieved from: https://www.omim.org/entry/272300

  • Catalog of Genes and Diseases. National Center for Biotechnology Information (NCBI). Retrieved from: https://www.ncbi.nlm.nih.gov/cgd/

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