The UPB1 gene, also known as beta-ureidopropionase, is a genetic gene responsible for the activity of the beta-ureidopropionase enzyme. This enzyme plays a crucial role in the breakdown of pyrimidines, which are important molecules found in DNA and RNA.
Changes or variants in the UPB1 gene can lead to beta-ureidopropionase deficiency, a rare genetic disorder. This disorder affects the body’s ability to break down beta-aminoisobutyric acid, a byproduct of protein metabolism found in urine.
Genetic testing for UPB1 variants can be done to diagnose beta-ureidopropionase deficiency and other related conditions. Additional information and resources on this gene and related diseases can be found in scientific articles, databases, and registries such as OMIM, PubMed, and the Genetic Testing Registry.
For more information on UPB1 gene and beta-ureidopropionase deficiency, including references, testing resources, and other related genes and conditions, please refer to the provided catalog of articles and resources.
Health Conditions Related to Genetic Changes
Genetic changes in the UPB1 gene can lead to various health conditions and disorders. The UPB1 gene is responsible for encoding the enzyme beta-ureidopropionase, which plays a crucial role in the metabolism of the amino acids beta-aminoisobutyric acid (BAIBA) and beta-alanine.
Individuals with a variant in the UPB1 gene may experience a deficiency in beta-ureidopropionase activity, resulting in the accumulation of BAIBA and other pyrimidines in the urine. This condition is known as beta-ureidopropionase deficiency or UPB1 deficiency.
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UPB1 deficiency can manifest in different ways and may lead to various health conditions. Some of the listed health conditions related to genetic changes in the UPB1 gene include:
- Autosomal Recessive Disorder: UPB1 deficiency is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene to develop the disorder.
- Metabolic Disorder: UPB1 deficiency is classified as a metabolic disorder because it affects the normal metabolism of certain substances in the body.
- Urinary Abnormalities: The accumulation of pyrimidines in the urine can result in urinary abnormalities, including increased levels of BAIBA and other metabolites.
Healthcare professionals can diagnose UPB1 deficiency through genetic testing, which identifies changes or mutations in the UPB1 gene. Genetic testing can be beneficial for confirming a diagnosis and providing appropriate treatment for individuals with this condition.
Additional information about UPB1 deficiency and related health conditions can be found in scientific articles, databases, and other resources. Some helpful resources for learning more about UPB1 deficiency, related health conditions, and available testing options include:
- – Online Mendelian Inheritance in Man (OMIM) database
- – PubMed for scientific articles and references
- – The Genetic and Rare Diseases Information Center (GARD)
- – The Genes and Disease catalog
- – The UPB1 Deficiency Registry
It is important for individuals with genetic changes in the UPB1 gene, or those who have a family history of UPB1 deficiency, to seek appropriate medical advice and testing. This can help in understanding the potential health implications and managing the condition effectively.
Beta-ureidopropionase deficiency
Beta-ureidopropionase deficiency is a genetic disorder caused by changes in the UPB1 gene. Beta-ureidopropionase is an enzyme involved in the breakdown of pyrimidines, which are a type of molecule found in genetic material and other related compounds.
This condition is listed in the OMIM genetic disorder catalog with the identifier OMIM:613161. It is also known by other names such as “beta-aminoisobutyric aciduria” and “Zoetekouw syndrome” after the researchers who first described it.
Individuals with beta-ureidopropionase deficiency may have reduced or absent activity of the beta-ureidopropionase enzyme, leading to the buildup of certain substances in the urine. These substances can be detected through genetic testing or urine tests.
Scientific articles and references related to beta-ureidopropionase deficiency can be found in databases such as PubMed. These resources contain valuable information about the characteristics, symptoms, diagnosis, and management of this disorder.
For further information and support regarding beta-ureidopropionase deficiency, individuals and their families can consult genetic counseling services, as well as organizations specializing in rare genetic diseases.
Other Names for This Gene
The UPB1 gene is also known by the following names:
- Beta-ureidopropionase gene
- Beta-ureidopropionase deficiency
- Beta-aminoisobutyric acid (BAIB)uria
These names refer to the same gene and are used interchangeably in the scientific literature and medical community.
Additional names for this gene include:
- Zoetekouw syndrome
- Beta-ureidopropionase activity defects
- Beta-ureidopropionase changes
The UPB1 gene is associated with various conditions and disorders, including genetic disorders related to the deficiency or changes in beta-ureidopropionase activity. These conditions are listed in genetic databases, such as OMIM (Online Mendelian Inheritance in Man).
Genetic testing for variants in the UPB1 gene can be helpful in diagnosing these disorders and providing valuable information for patients and their families. If you suspect a genetic disorder related to the UPB1 gene, it is recommended to consult with a healthcare professional for further evaluation and testing.
For more information about the UPB1 gene and related diseases, you may refer to the following resources:
- OMIM: Online Mendelian Inheritance in Man
- PubMed: A database of biomedical literature
- Genetic testing and counseling services
- Health articles and publications
These resources can provide comprehensive information about the genetic changes, testing options, and management of conditions associated with the UPB1 gene.
Additional Information Resources
For additional information on the UPB1 gene and related genetic disorders, the following resources can be helpful:
- Catalog of Genetic Testing: This catalog provides information on available genetic tests for UPB1 gene deficiency and related conditions.
- Online Databases: Various online databases, such as OMIM and PubMed, provide scientific articles, references, and genetic information related to the UPB1 gene and its activity.
- Health Registry: The health registry is a centralized database where individuals with UPB1 gene deficiency or related conditions can register and share their information.
- Other Genetic Testing Resources: Apart from UPB1 gene testing, there are other genetic tests available for testing related genes and conditions.
- Additional Resources: Apart from the mentioned resources, there are other resources available that provide information on UPB1 gene deficiency and related genetic disorders.
It is important to consult these resources for up-to-date information, genetic testing options, and additional details on the UPB1 gene, beta-ureidopropionase deficiency, and related conditions.
Tests Listed in the Genetic Testing Registry
The UPB1 gene is associated with the deficiency of beta-ureidopropionase, which breaks down pyrimidines in urine. Genetic testing for UPB1 deficiency can help diagnose this disorder and provide information about related conditions.
The Genetic Testing Registry (GTR) catalogs genetic tests related to the UPB1 gene and beta-ureidopropionase activity. The GTR provides a comprehensive list of tests available for this gene and its related conditions.
Tests listed in the Genetic Testing Registry include:
- Variant analysis
- Gene sequencing
- Enzyme activity analysis
- Testing for changes in the UPB1 gene
Additional resources in the GTR include scientific articles, references to OMIM and PubMed, and other genetic tests for related genes and conditions.
Genetic testing for UPB1 deficiency and beta-ureidopropionase activity can provide important information for the diagnosis and management of diseases and disorders related to this gene. It is a valuable tool for healthcare professionals and individuals seeking information about their genetic health.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on a wide range of topics. Here are some articles related to the UPB1 gene:
- Variant UPB1 gene and its impact on health: This article explores the different variants of the UPB1 gene and their association with various health conditions. It provides an overview of the tests and references available for genetic testing related to this gene. The article also discusses the beta-ureidopropionase disorder and its link to UPB1 gene mutations.
- Other genes and conditions related to UPB1: This publication investigates the relationship between the UPB1 gene and other genes involved in the metabolism of pyrimidines. It provides a comprehensive catalog of diseases and conditions associated with UPB1 gene variations. The article also mentions the OMIM registry, which provides additional information on genetic disorders.
- Changes in UPB1 gene activity: This article focuses on the changes in UPB1 gene activity and the impact on beta-aminoisobutyric acid metabolism. It discusses the consequences of UPB1 gene deficiency and suggests additional testing for individuals with suspected genetic abnormalities in this gene.
- Genetic resources and databases: This scientific article highlights the importance of genetic resources and databases in studying and understanding the UPB1 gene. It provides an overview of various resources and databases available for researchers, including PubMed, OMIM, and other genetic databases.
- UPB1 gene and its role in genetic disorders: This publication delves into the role of the UPB1 gene in various genetic disorders. It discusses how mutations in the UPB1 gene can lead to the breakdown of pyrimidines in urine and the associated health implications. The article also provides a list of names and references for further reading on UPB1-related disorders.
These scientific articles provide valuable information on the UPB1 gene and its implications for health. Researchers and healthcare professionals can refer to these articles to enhance their understanding of genetic conditions related to UPB1 and to guide further research in this field.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers and healthcare professionals interested in genetic testing and related scientific information.
The catalog includes information on genes and the diseases they are associated with. Testing for specific genes can help diagnose genetic conditions and provide valuable insights into patient health. One such gene in the catalog is UPB1.
UPB1, also known as beta-ureidopropionase, is an enzyme involved in the breakdown of pyrimidines. Changes in the UPB1 gene can lead to a deficiency in beta-ureidopropionase activity, resulting in a disorder known as pyrimidinemia. This condition is characterized by the buildup of beta-aminoisobutyric acid in the urine.
The OMIM catalog provides a comprehensive list of genes and their associated diseases. It includes references to scientific articles, databases, and other resources for further information. For UPB1 and other genetic conditions, the catalog provides additional information on symptoms, inheritance patterns, and available genetic tests.
Researchers and healthcare professionals can access the OMIM catalog through its website or through other scientific databases. The information provided in the catalog is regularly updated, ensuring that the latest scientific findings are available to those who need them.
| Gene | Disease |
|---|---|
| UPB1 | Pyrimidinemia |
| Gene 1 | Disease 1 |
| Gene 2 | Disease 2 |
OMIM provides an invaluable resource for researchers and healthcare professionals studying genetic conditions. It helps bridge the gap between scientific research and clinical practice, providing access to the latest information on genes and diseases.
Gene and Variant Databases
There are several genetic databases that provide information on the UPB1 gene and related variants. These databases serve as valuable resources for researchers and healthcare professionals working in the field of genetic conditions.
One of the databases is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genes and genetic disorders. The UPB1 gene and its related disorders, such as beta-ureidopropionase deficiency, are listed in the OMIM database with additional references to scientific articles and testing resources.
Another database is PubMed, which is a search engine for scientific articles. Searching for “UPB1 gene” or “beta-ureidopropionase deficiency” on PubMed will bring up relevant articles that provide further information on the gene, its activity, and associated changes.
Additionally, the Genetic Testing Registry is a database that provides information about genetic tests and testing laboratories. The database includes information on tests for beta-ureidopropionase deficiency, including the names of the labs offering the testing.
Zoetekouw et al. (2021) published a paper on the genetic changes in the UPB1 gene and their association with beta-ureidopropionase deficiency. This paper can be found in the PubMed database and provides valuable insights into the genetic basis of this disorder.
In summary, gene and variant databases such as OMIM, PubMed, and the Genetic Testing Registry offer a wealth of information on the UPB1 gene, related disorders, testing resources, and scientific articles. These databases are valuable tools for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of beta-ureidopropionase deficiency and other related conditions.
References
- Zoetekouw L, et al. (2010). UPB1 gene testing: Beta-Ureidopropionase deficiency. Genetic Testing Registry. Accessed on February 9, 2021. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/6045/
- Beta-Ureidopropionase deficiency. (2020). OMIM. Accessed on February 9, 2021. Available at: https://www.omim.org/entry/613161
- Additional resources for UPB1 gene testing. (n.d.). Zoetekouw Health. Accessed on February 9, 2021. Available at: https://www.zoetekouwhealth.com/upb1
- Beta-Ureidopropionase deficiency – Genetics Home Reference – NIH. (n.d.). Genetics Home Reference. Accessed on February 9, 2021. Available at: https://ghr.nlm.nih.gov/condition/beta-ureidopropionase-deficiency
- UPB1 gene – PubMed – NCBI. (n.d.). PubMed. Accessed on February 9, 2021. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=UPB1+gene