UROS gene

The UROS gene, also known as uroporphyrinogen III synthase, is responsible for producing an enzyme involved in the production of heme. Heme is an essential component of hemoglobin, the protein responsible for carrying oxygen in red blood cells.

Mutations in the UROS gene can lead to a rare genetic disorder called congenital erythropoietic porphyria (CEP), also known as Gunther’s disease. CEP is characterized by a deficiency of the uroporphyrinogen III synthase enzyme, resulting in the buildup of toxic substances called porphyrins in the body.

Clinical tests and additional genetic testing can be used for the diagnosis of CEP and other related porphyrias. The Genetic Testing Registry (GTR) and other databases provide information on available tests and their indications.

Studies have identified various genetic changes in the UROS gene that are associated with CEP. These mutations can affect the structure or function of the enzyme, leading to decreased enzyme activity and the accumulation of porphyrins.

Expression of the UROS gene is primarily found in the liver and bone marrow, where heme synthesis occurs. Research articles indexed in PubMed and the Online Mendelian Inheritance in Man (OMIM) database provide scientific information on the UROS gene and related conditions.

Individuals with CEP may present with a range of health conditions, including anemia, skin photosensitivity, and hemolytic episodes. For detailed information on the symptoms, diagnostic criteria, and management of CEP, consult medical references and resources such as the ClinVar database and other reputable sources.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions. One gene in particular, UROS, is associated with several conditions and diseases. UROS is an abbreviation for uroporphyrinogen-III synthase, which is an enzyme involved in the production of heme, a molecule essential for the function of hemoglobin.

Changes in the UROS gene can result in a genetic variant called uroporphyrinogen-III cosynthase deficiency. This deficiency affects the normal function of the enzyme, leading to a buildup of intermediate metabolites known as porphyrins. This condition, also known as non-erythroid acute porphyria, is characterized by symptoms such as abdominal pain, neurological disturbances, and sensitivity to light.

In addition to uroporphyrinogen-III cosynthase deficiency, other genetic changes in the UROS gene have been linked to other types of porphyria, such as congenital erythropoietic porphyria and erythropoietic protoporphyria. These conditions are also characterized by an abnormal buildup of porphyrins in the body, resulting in various symptoms.

To learn more about these health conditions related to genetic changes in the UROS gene, you can refer to various resources and databases available. Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed have articles and references related to these conditions. The Genetic Testing Registry (GTR) can provide information on the available tests for genetic changes in the UROS gene.

It is important to consult with a healthcare professional for proper diagnosis and management of these conditions. Genetic testing may be recommended to identify specific genetic changes and guide treatment options. Additionally, other genes may also be involved in these conditions, so further genetic testing may be required.

In summary, genetic changes in the UROS gene can lead to various health conditions related to porphyria. Understanding the expression of genes and their role in these conditions is crucial for accurate diagnosis and effective management of these diseases.

Porphyria

Porphyria refers to a group of genetic diseases that affect the production of heme, a component of hemoglobin that carries oxygen in the blood. These conditions are caused by mutations in the genes that encode enzymes involved in the heme production pathway.

There are several types of porphyria, each caused by mutations in different genes. Some of the most common types include:

  • Acute intermittent porphyria (AIP): caused by mutations in the HMBS gene, which provides instructions for making the enzyme hydroxymethylbilane synthase. This enzyme is involved in the production of heme.
  • Variegate porphyria (VP): caused by mutations in the PPOX gene, which provides instructions for making the enzyme protoporphyrinogen oxidase. This enzyme is also involved in the heme production pathway.
  • Erythropoietic protoporphyria (EPP): caused by mutations in the FECH gene, which provides instructions for making the enzyme ferrochelatase. This enzyme helps convert protoporphyrinogen to heme.

Diagnosis of porphyria often involves testing for the presence of certain porphyrins or their precursors in the urine, blood, or stool. These tests can help identify the specific type of porphyria and guide treatment decisions.

Scientific resources such as OMIM, PubMed, and various genetic databases provide additional information on porphyria and related conditions. These resources list the specific genes associated with each porphyria type, as well as any known variants or changes in these genes that may contribute to the development of the condition.

Furthermore, various registries and clinics specializing in porphyria offer valuable information and support for individuals affected by this condition. These resources can provide access to specialized testing, treatment guidelines, and information on clinical trials or research studies.

In conclusion, porphyria is a group of genetic diseases that impact heme production. Due to its wide range of types and genetic causes, it is important for individuals with suspected porphyria to undergo appropriate testing and consult with healthcare providers knowledgeable in this field.

See Also:  Burn-McKeown syndrome

Other Names for This Gene

  • URO-synthase (Hs.82812)
  • UROS variant databases genotype phenotype HGVS Nomenclature Refseq: NM_000375.3
  • UROS
  • URO-synthetase
  • URO III synthase
  • URO cosynthase
  • URO co-synthase
  • UROP

UROS is the gene associated with the porphyria known as uroporphyrinogen-III synthase deficiency. It is listed in the OMIM database under the gene name UROS and has the official gene symbol UROS.

The UROS gene is responsible for encoding the enzyme uroporphyrinogen-III synthase, which plays a crucial role in the heme biosynthesis pathway. Mutations or changes in this gene can lead to the development of various porphyrias, including uroporphyrinogen-III synthase deficiency.

The UROS gene has been extensively studied and documented in scientific articles and publications. It is referenced in PubMed and other scientific databases for its genetic expression and role in related diseases and conditions.

Clinical tests and genetic testing resources often include the UROS gene in their panels for diagnosing and screening porphyria-related conditions. Additional information on the UROS gene can be found in genetic health registries and other resources for genetic conditions.

Other names for the UROS gene, such as uroporphyrinogen-III cosynthase, uroporphyrinogen-III synthetase, and uroporphyrinogen-III co-synthase, are also listed in scientific references and databases. These names reflect the different aspects of the gene’s function and its role in the porphyrias.

Additional Information Resources

For additional information on the UROS gene, please refer to the following resources:

  • The UROS gene is listed under the gene symbol “UROS” in various genetic databases such as GenBank, OMIM, and Ensembl.
  • Scientific articles related to the UROS gene and its associated conditions, such as congenital erythropoietic porphyria (CEP), can be found on PubMed.
  • The URODgene.org website provides information about the UROS gene, including genetic testing resources and clinical laboratories offering tests for variations in this gene.
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including porphyrias.
  • The Registry of Porphyrias and Porphyric Disorders (Porphyrin Registry) is a comprehensive catalog of porphyria patients and their associated genetic changes. This registry provides valuable information on the UROS gene and other genes associated with porphyrias.

For further resources and tests related to the UROS gene and porphyria, please consult healthcare professionals and genetic testing laboratories.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and understanding various genetic conditions. The Genetic Testing Registry (GTR) is a valuable resource that catalogues information on genetic tests and related health conditions. In the context of the UROS gene, which is associated with various porphyrias, the GTR lists several tests and resources for further examination.

1. Test Name: Hydroxymethylbilane Synthase Deficiency Testing

  • OMIM: 606938
  • Description: This test determines the presence of changes or variants in the UROS gene, encoding hydroxymethylbilane synthase, which is linked to the development of porphyrias, including Hydrops Fetalis.
  • References: OMIM, GeneReviews, PubMed, ClinVar

2. Test Name: Porphyria Genetic Testing

  • OMIM: 177000
  • Description: This comprehensive test analyzes multiple genes associated with porphyria to identify any genetic changes. The UROS gene is one of the genes included in the panel.
  • References: OMIM, GeneReviews, PubMed, ClinVar

3. Test Name: Porphyria Diagnostic DNA Testing

  • Description: This targeted test specifically examines the UROS gene to detect variations or mutations, aiding in the diagnosis of porphyria and related conditions.
  • References: OMIM, GeneReviews, PubMed, ClinVar

The GTR provides additional resources and references for further exploration:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that catalogs genetic information, including genes, diseases, and variations.
  • GeneReviews: A comprehensive resource that provides expert-authored, peer-reviewed information on inherited diseases.
  • ClinVar: A freely accessible database that catalogs genetic variations and their interpretation.
  • PubMed: An extensive database of scientific articles covering various medical and scientific disciplines.

In summary, the Genetic Testing Registry offers a range of tests related to the UROS gene and porphyrias. These tests provide valuable information for the diagnosis and understanding of these genetic conditions. The registry also offers additional resources and references for further research and exploration.

Scientific Articles on PubMed

PubMed is a valuable resource for scientific articles related to the UROS gene and porphyria. It serves as a catalog of clinical and genetic information, providing access to numerous references.

Porphyrias, a group of genetic diseases related to the UROS gene, can be further categorized into different types. The Porphyrias Registry is a helpful resource for obtaining additional information on these types.

Genetic variants and changes in the UROS gene can cause abnormalities in the production of uroporphyrinogen-III, resulting in various porphyrias. PubMed provides access to scientific articles that discuss the genetic basis of porphyrias and the specific genetic changes associated with the UROS gene.

Health-related tests can be performed to diagnose porphyria and determine the specific type. These tests may involve analyzing urine, blood, or other samples. PubMed can provide information on the different tests available and their implications for diagnosis and treatment of porphyria.

See Also:  Chromosome 13

In addition to porphyria-specific information, PubMed also contains articles on other related conditions and diseases. It serves as a comprehensive database for researchers and healthcare professionals interested in studying or treating porphyria.

For further resources, PubMed provides references to other scientific databases such as OMIM (Online Mendelian Inheritance in Man). These databases contain additional information on the UROS gene, porphyria, and related conditions.

Overall, PubMed is an essential tool for accessing scientific articles on the UROS gene, porphyria, and related topics. It serves as a comprehensive resource for researchers, clinicians, and anyone interested in learning more about these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource providing information on various genetic conditions and related genes. It serves as a valuable tool for scientists, healthcare professionals, and individuals seeking information on genetic disorders and their associated genes.

One such condition listed in the catalog is porphyria, a group of diseases caused by abnormalities in the production of heme, a vital component of hemoglobin. Heme is responsible for the transport of oxygen in the blood.

The catalog provides detailed information on the UROS gene, also known as cosynthase, which is involved in the production of uroporphyrinogen-III, an intermediate in the heme biosynthesis pathway.

For individuals with a suspected genetic condition or those interested in genetic testing, the catalog offers a wealth of resources. It provides a list of additional databases and registries where further information on genes and diseases can be found. These resources can aid in diagnosis, treatment, and management of genetic disorders.

Scientific articles, references, and PubMed links are also provided, allowing users to delve deeper into the research and explore the latest advancements in the field of genetics.

In addition to porphyria, the catalog includes information on various other genetic conditions, providing a comprehensive overview of the genetic landscape and its impact on human health.

Key features of the Catalog of Genes and Diseases from OMIM:

  • Comprehensive information on genes and associated diseases
  • Resources for genetic testing and diagnosis
  • Links to additional databases for further exploration
  • Scientific articles and references for in-depth research
  • List of conditions and diseases related to specific genes
  • Updated information on gene changes and variants

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in the field of genetics. It provides a comprehensive overview of genetic conditions, associated genes, and resources for genetic testing and diagnosis.

Gene and Variant Databases

The UROS gene, also known as uroporphyrinogen-III cosynthase, is involved in the production of an enzyme called hydroxymethylbilane. This enzyme is important for the synthesis of heme, a molecule necessary for the proper function of hemoglobin and other proteins.

There are several databases that provide valuable information related to the UROS gene and its variants. These databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the UROS gene, related conditions such as porphyrias, and additional resources for testing and clinical research.

  • GeneTests: GeneTests is a resource that provides information on genetic tests and related genetic conditions. It includes a registry of laboratories offering genetic testing for UROS gene mutations and other porphyria-related genes.

  • PubMed: PubMed is a database of scientific articles and publications. It can be used to find relevant articles on the UROS gene and its expression, as well as other genetic changes associated with porphyria and related conditions.

In addition to these databases, there are also various variant databases that specifically focus on cataloging genetic variants in the UROS gene. These databases include:

  • LOVD: LOVD (Leiden Open Variation Database) is a platform for the collection, display, and analysis of DNA variants. It includes a specific section for the UROS gene and lists known variants, their names, and references to scientific articles.

  • ClinVar: ClinVar is a public archive of reports on the relationships between genetic variations and human health. It provides information on the clinical significance of UROS gene variants and their association with porphyria and other related diseases.

  • HGMD: HGMD (Human Gene Mutation Database) is a comprehensive resource for information on human inherited mutations. It contains a collection of UROS gene mutations and associated disease information.

These gene and variant databases serve as valuable resources for researchers, clinicians, and individuals interested in the UROS gene and its role in porphyria and related conditions. They provide a wealth of information on genetic tests, genetic variants, and scientific articles that further our understanding of the genetic basis of these diseases.

References

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