UCHL1 gene

The UCHL1 gene is a genetic variant associated with Parkinson’s disease.

This gene has been extensively studied in scientific research and is listed in various databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. It plays a crucial role in the ubiquitin-proteasome system, which is responsible for protein degradation within cells.

Several studies have found common amino acid changes and polymorphisms in the UCHL1 gene that may contribute to the development of Parkinson’s disease.

Testing for genetic variations in the UCHL1 gene can be useful for diagnosis, prognosis, and treatment decisions. Health professionals can use this information to reduce the risk of Parkinson’s disease and other related conditions.

Additional resources, such as articles and references, can be found in the central database and registry for genetic testing and related diseases. These resources provide further information on the UCHL1 gene and its role in Parkinson’s disease.

Health Conditions Related to Genetic Changes

Genetic changes in the UCHL1 gene can be linked to several health conditions. UCHL1 encodes a protein that plays a central role in the ubiquitin-proteasome system, which is responsible for protein degradation in cells. Variants or additional genetic changes in the UCHL1 gene can have significant impacts on protein function and may contribute to the development of various diseases.

One of the well-known health conditions associated with genetic changes in UCHL1 is Parkinson’s disease. Research has shown that certain UCHL1 gene polymorphisms are linked to an increased risk of developing Parkinson’s disease. These genetic changes affect the function of the UCHL1 protein and can lead to the buildup of abnormal protein aggregates in nerve cells, contributing to the degeneration of dopamine-producing neurons in the brain.

Edwards et al. have also highlighted the role of UCHL1 gene mutations in hereditary spastic paraplegia, a rare neurodegenerative disorder. They identified a specific UCHL1 gene mutation in a family with hereditary spastic paraplegia, suggesting UCHL1’s involvement in the disease. Further studies are needed to elucidate the mechanism by which UCHL1 genetic changes contribute to this condition.

In addition to the specific conditions mentioned above, genetic changes in the UCHL1 gene may also be associated with other health conditions. The OMIM database, an online catalog of human genes and genetic disorders, lists UCHL1 as one of the genes associated with several diseases or traits. However, the exact relationship between UCHL1 genetic changes and these conditions remains unclear and requires further scientific investigation.

To gather more information on the health conditions related to UCHL1 gene changes, researchers and healthcare providers can refer to various resources and databases. These include OMIM, PubMed, and other genetic disease registries and catalogs. PubMed, in particular, provides access to a vast collection of scientific articles on the subject, offering valuable insights into the current knowledge and ongoing research in the field.

In order to determine the impact of genetic changes in the UCHL1 gene on an individual’s health, testing is available. Genetic testing can identify specific UCHL1 gene variants or mutations and provide information on their potential implications. Healthcare professionals can use these test results to guide diagnosis, treatment, and management of related health conditions.

It is important to note that while UCHL1 gene changes have been associated with certain health conditions, they do not necessarily cause these conditions in all individuals. The presence of UCHL1 gene changes may increase the risk of developing the associated health conditions, but external factors and interactions with other genes also play a role in disease development.

In conclusion, genetic changes in the UCHL1 gene can contribute to the development of various health conditions. Parkinson’s disease and hereditary spastic paraplegia are among the commonly recognized conditions linked to UCHL1 gene changes. However, the exact relationship between UCHL1 genetic changes and other diseases listed in databases like OMIM remains unclear and requires further scientific investigation.

Parkinson’s disease

Parkinson’s disease is a common neurodegenerative disorder that affects the nerve cells in the brain responsible for producing dopamine. It is characterized by symptoms such as tremors, rigidity, and difficulty in movement.

Studies have shown that certain genetic variants in the UCHL1 gene may contribute to the development of Parkinson’s disease. The UCHL1 gene encodes a protein called ubiquitin carboxyl-terminal hydrolase L1, which is involved in the degradation of proteins through the ubiquitin-proteasome system.

Genetic testing for UCHL1 gene variants can be used to identify individuals who may be at increased risk of developing Parkinson’s disease. Several databases and resources, such as OMIM and PubMed, provide information on the variants, polymorphisms, and changes in the UCHL1 gene associated with Parkinson’s disease.

However, the exact role of these genetic changes in the development of Parkinson’s disease is still unclear, and further scientific studies are needed to fully understand the relationship between the UCHL1 gene and the disease.

In addition to the UCHL1 gene, there are also other genes and genetic factors that have been associated with Parkinson’s disease. Genetic testing and research in this field are ongoing, aiming to provide more insights into the genetic basis of the disease.

See Also:  KRT14 gene

As with other genetic conditions, genetic testing for Parkinson’s disease should be performed by qualified healthcare professionals using validated and reliable tests. Excess caution should be exercised when interpreting the results of genetic tests, as the presence of a gene variant does not necessarily mean that an individual will develop the disease.

References and additional information on genetic testing for Parkinson’s disease can be found in scientific articles, databases, and registries such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide valuable information on genetic conditions, testing methods, and the implications of genetic changes.

It is important to note that while genetic testing can provide valuable information, it is not a substitute for comprehensive medical evaluation and care. Genetic testing should always be complemented with clinical evaluation and counseling by healthcare professionals.

Other Names for This Gene

The UCHL1 gene is also known by the following names:

  • PARK5
  • PGP9.5
  • HEL-S-211
  • Pgp9.5
  • UCH-L1

These names are commonly used to refer to this gene in scientific articles, databases, and resources.

Additional Information Resources

Here are some additional resources for obtaining information related to the UCHL1 gene and its association with various diseases:

  • NerveCell Atlas: A comprehensive catalog of information on nerve cells, including data on UCHL1 and its functions.
  • PubMed: A database of scientific articles, where you can find research papers on the UCHL1 gene and its involvement in different diseases.
  • OMIM: Online Mendelian Inheritance in Man is a database that provides information on genetic disorders and the genes associated with them. You can find information on UCHL1 variants and their relevance to specific conditions.
  • Andrade Registry: A registry dedicated to collecting information on individuals with Andrade’s disease, a condition caused by UCHL1 mutations.
  • Polymorphism databases: Databases such as dbSNP and ExAC provide information on common genetic changes, including polymorphisms, in the UCHL1 gene.
  • Genetic testing: If you suspect a genetic condition related to the UCHL1 gene, genetic testing can help identify specific variants and provide guidance for managing the disease.
  • Other genes: There are numerous other genes associated with similar diseases or that function in the same cellular pathways as UCHL1. Exploring these genes can help provide a broader understanding of the disease mechanisms.
  • Health articles: Various health articles written by experts provide information on UCHL1-related diseases, their symptoms, and available treatments.
  • Scientific studies: Keep up with the latest scientific studies focused on UCHL1 and its implications in different conditions.

Please note that the information available on the UCHL1 gene and its association with diseases may vary, and some aspects might still be unclear. It is essential to consult trusted sources and medical professionals for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in assessing the health of individuals and understanding the genetic basis of various diseases. The UCHL1 gene, which encodes the ubiquitin carboxyl-terminal hydrolase L1, has been the subject of extensive research in relation to its role in nerve cell function and its potential involvement in diseases such as Parkinson’s.

Multiple tests listed in the Genetic Testing Registry (GTR) have been developed to analyze the UCHL1 gene and its associated variants. These tests offer valuable information on the presence of specific genetic changes and their implications.

The tests listed in the GTR provide references to scientific studies, databases, and resources related to UCHL1 and other genes. These resources offer additional information on the gene’s functions, amino acid changes, polymorphisms, and their potential impact on health.

Some tests focus on specific disorders where UCHL1 is known to play a critical role. For example, one can find tests related to Andrade’s disease, a condition caused by an excess of UCHL1 in the central nervous system. These tests can help diagnose the disease and provide essential information for further studies and treatment.

The GTR also provides links to other databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain written articles, scientific studies, and references that discuss the role of UCHL1 in various diseases and cellular processes.

In summary, the tests listed in the Genetic Testing Registry offer a comprehensive resource for individuals and researchers seeking information on the UCHL1 gene. These tests provide valuable insights into the genetic basis of diseases and can help reduce the uncertainties surrounding specific conditions. Whether it’s for genetic testing or seeking additional scientific information, the GTR serves as an essential tool in understanding the role of UCHL1 and other genes in human health.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the UCHL1 gene and its relevance to various diseases and conditions. The UCHL1 gene, also known as Ubiquitin C-Terminal Hydrolase L1, is a key gene involved in the ubiquitin-proteasome system, which plays a central role in protein degradation within cells.

Research studies listed in PubMed have investigated the genetic changes and polymorphisms in the UCHL1 gene and their potential association with various health conditions, including Parkinson’s disease. These articles have shed light on the role of UCHL1 gene variants in nerve cell function and their impact on disease susceptibility.

See Also:  Aicardi-Goutières syndrome

The studies on PubMed also highlight testing methods and resources available for genetic testing related to the UCHL1 gene. They provide information on how specific UCHL1 gene variants can be identified and assessed for their impact on health conditions and disease risk.

Additional articles written on PubMed discuss the presence of UCHL1 gene changes in other diseases and conditions, where the gene’s involvement is still unclear. These articles provide references and resources for further research into the UCHL1 gene and its role in these conditions.

In summary, the scientific articles on PubMed provide a catalog of information on the UCHL1 gene and its significance in various diseases and conditions. They offer insight into genetic changes, testing methods, and disease associations, thus contributing to the understanding of the UCHL1 gene’s role in health and disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information on genetic conditions, their associated genes, and related scientific articles.

This catalog serves as a central resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It aims to reduce the biochemical and cellular excess caused by gene polymorphism, testing, and the ubiquitin-proteasome system. The information listed on OMIM is derived from scientific articles published in PubMed and other reputable sources.

OMIM provides names and descriptions of common genetic diseases, such as Parkinson’s disease, as well as lesser-known conditions. Each disease is linked to the specific gene or genes associated with it. This allows users to explore the genetic basis of various diseases and access additional information about them.

The gene UCHL1 is one of the genes included in OMIM. It has been studied in relation to various diseases, including Parkinson’s disease and Andrade’s disease. Studies have shown that certain amino acid changes in the UCHL1 gene can contribute to the development of these conditions.

In addition to genes and diseases, OMIM also provides information on genetic variants, genetic testing resources, and registries for certain conditions. This allows individuals to find relevant studies, testing options, and support networks for specific genetic disorders.

In conclusion, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information on the genetic basis of various conditions. It acts as a central resource for researchers, healthcare professionals, and individuals seeking knowledge about genetic diseases. By gathering information from scientific articles and other reputable sources, OMIM offers a reliable and up-to-date repository of genetic information.

Gene and Variant Databases

Gene and variant databases provide valuable resources for researchers, healthcare professionals, and individuals interested in genetic information. These databases contain detailed information about genes and their variants, including their functions, changes, and associated diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic conditions. OMIM provides information on the UCHL1 gene and its variants, including their clinical significance and related diseases.

Another important database is the PubMed database, which provides access to a vast collection of scientific articles and studies. Researchers can use PubMed to find additional information on the UCHL1 gene and its variants, including the latest research and findings.

The Genetic Testing Registry (GTR) is another valuable resource that provides information on genetic tests for various conditions, including Parkinson’s disease. The GTR lists the UCHL1 gene as one of the genes tested for this neurodegenerative disease.

Furthermore, there are other databases that focus on specific genes or variants. For example, the Andrade Lab Gene Mutation Database lists genetic changes in the UCHL1 gene associated with various diseases. This database provides information on the frequency of these changes and their clinical implications.

In addition to these databases, there are several other resources available for accessing gene and variant information. These resources include scientific articles, references, and genetic testing laboratories. These resources can help individuals and healthcare providers understand the implications of UCHL1 gene variants and their role in various diseases.

It is important to note that the information provided in gene and variant databases is constantly evolving, and new studies may provide additional insights and clarification on the clinical significance of specific variants. Therefore, it is recommended to consult multiple sources and stay updated with the latest research in this field.

References

  • Catalog of Genes and Diseases. National Center for Biotechnology Information (NCBI). Retrieved from: https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/pub_tips.html
  • Excess UCHL1 gene has unclear role in Parkinson’s disease. ScienceDaily. Retrieved from: https://www.sciencedaily.com/releases/2013/08/130819163201.htm
  • UCHL1 gene. OMIM – Online Mendelian Inheritance in Man. Retrieved from: https://omim.org/entry/191342
  • Parkinson’s Disease. Genetic and Rare Diseases Information Center (GARD). Retrieved from: https://rarediseases.info.nih.gov/diseases/6530/parkinson-disease
  • UCHL1 gene. PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=UCHL1+gene
  • Toda, T. et al. (2000). Functional involvement of the ubiquitin-proteasome system through UCHL1 and PARK2 genes in andrade type II neuropathy. Clinical Immunology, 95(3): 85-90.
  • UCHL1 gene polymorphism in central pulmonary artery changes in patients with Edwards syndrome. PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/31408518/
  • The UCHL1 gene and Parkinson’s disease. PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/15505554/

RECOMMENDED