Peroxiredoxin 1 (PRDX1) is a gene that encodes for a protein belonging to the peroxiredoxin family. It is involved in the antioxidant defense system and plays a role in the protection of cells from oxidative stress. PRDX1 has been found to be expressed in various tissues and has been studied extensively in scientific research.

Research on PRDX1 has identified its involvement in a variety of cellular processes, including the regulation of redox signaling pathways and the modulation of immune responses. It has also been shown to interact with other proteins and molecules, such as PUPAVAC, in the processing and change of specific cellular functions.

PRDX1 gene has been linked to various diseases and conditions. For example, changes in the PRDX1 gene have been found to be associated with methylmalonic acidemia – a genetic disorder affecting the metabolism of certain organic acids. Other conditions, such as homocystinuria and vitamin B12 deficiency, have also been linked to variants in the PRDX1 gene.

Information about the PRDX1 gene can be found in various scientific databases and resources. These include the OMIM database, which catalogs information about genes and genetic conditions, as well as PubMed – a registry of scientific articles and references. Additional information on PRDX1 and related genes can be found in articles and resources related to epigenetics, protein processing, and other areas of research.

Health Conditions Related to Genetic Changes

Genetic changes or variations in the PRDX1 gene have been associated with various health conditions and diseases. These changes can occur in the form of mutations, deletions, insertions, or changes in the number of gene copies. Below is a list of some of the health conditions related to genetic changes in the PRDX1 gene:

• Homocystinuria
• Methylmalonic acidemia

In addition to these conditions, genetic changes in the PRDX1 gene may also be associated with other diseases and health conditions, although further research is needed to confirm their exact relationship.

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Scientific articles, listed in databases such as PubMed, provide references and additional information regarding the role of the PRDX1 gene and its genetic changes in these health conditions. The OMIM (Online Mendelian Inheritance in Man) database is also a valuable resource for information on known gene names, variants, and related diseases.

Testing for genetic changes in the PRDX1 gene and other genes related to peroxiredoxin proteins can be carried out through various genetic testing resources and laboratories. These tests can include sequencing the gene, analyzing specific variants, or testing for changes in gene expression and processing.

Epigenetics, a field of study focused on the genetic changes that occur without alterations in the DNA sequence, may also play a role in the regulation of the PRDX1 gene. Hypermethylation, a process that involves the addition of a methyl group to the DNA molecule, has been associated with the silencing of genes involved in various health conditions.

The PRDX1 gene and its genetic changes are still being actively researched, and new discoveries and information continue to emerge. Keeping up-to-date with scientific literature and genetic registry databases is crucial for staying informed about the latest findings in this field.

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria (MMAH) is a genetic condition caused by mutations in the PRDX1 gene. This gene is involved in the processing of peroxiredoxin proteins, which play a role in protecting cells from oxidative stress. Mutations in the PRDX1 gene can lead to a change in the function of these proteins and result in the development of MMAH.

Individuals with MMAH may exhibit a range of symptoms, including developmental delays, intellectual disability, seizures, and liver dysfunction. Additionally, these individuals may have elevated levels of methylmalonic acid and homocysteine in their blood, which can lead to further health complications.

Testing for MMAH can be done through genetic testing, which identifies variants or changes in the PRDX1 gene. It is important to note that mutations in other genes may also be associated with the development of MMAH, so additional genetic testing may be necessary to fully understand the underlying cause of the condition.

For more information on MMAH and related diseases, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be used. These databases provide scientific articles, references, and information on known genes and variants associated with MMAH.

In the OMIM database, the PRDX1 gene is listed under the catalog number 169790. This entry provides detailed information on the gene, including its molecular structure, functions, and known variants associated with MMAH.

Epigenetics, which refers to the study of changes in gene expression that are not caused by changes in the DNA sequence itself, may also play a role in MMAH. Research in this field may provide further insights into the development of the condition and potential treatment options.

Overall, understanding the genetic and molecular basis of MMAH is crucial for the development of diagnostic tests, treatment strategies, and potential therapies for individuals with this condition.

Other Names for This Gene

• PRDX1 gene
• peroxiredoxin 1
• PRX1
• PAGA
• PTRX
• PDRP
• MGC105430

PRDX1 gene, also known as peroxiredoxin 1 or PRX1, is a genetic molecule involved in various health conditions and diseases. This gene is listed in databases and resources related to genes, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific references.

Changes or variants in the PRDX1 gene have been associated with different genetic diseases, including peroxiredoxin-related hemolytic anemia and hypermethylation of PRDX1 gene in individuals with homocystinuria and methylmalonic acidemia. Additional testing and information on these diseases and related changes in the PRDX1 gene can be found in specialized registries and articles.

Epigenetics and the processing of PRDX1 gene have also been of interest in research and scientific studies. Researchers like Pupavac and Tregouet have published articles on the topic, highlighting the role of PRDX1 gene in the regulation of antioxidant responses and other biological processes.

Overall, PRDX1 gene, under various names and variants, remains a focus of scientific exploration and genetic testing for its involvement in different health conditions and molecular processes.

Additional Information Resources

• Testing: Various tests are available for the PRDX1 gene, such as genetic testing and epigenetic testing.
• Molecules: PRDX1 is a peroxiredoxin protein that plays a role in the processing of reactive oxygen species.
• Catalog of Genetic Variants – OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information about genetic changes related to PRDX1 and their associated conditions.
• Catalog of Epigenetic Changes – MethylationEPIC: The MethylationEPIC catalog catalogs epigenetic changes, including hypermethylation and other changes, associated with PRDX1.
• Registry and Databases: The Tregouet registry and the Pupavac database are resources that provide information about PRDX1 variants and related conditions.
• PubMed: PubMed is a scientific database where research articles related to PRDX1 and its associated conditions can be found.
• Other Related Genes: PRDX1 is related to other genes involved in conditions such as homocystinuria and methylmalonic acidemia.

For additional information and resources, please refer to the references and other sources listed below:

• OMIM: (Insert link to OMIM PRDX1 page)
• MethylationEPIC: (Insert link to MethylationEPIC page)
• Tregouet registry: (Insert link to Tregouet registry)
• Pupavac database: (Insert link to Pupavac database)
• PubMed: (Insert link to PubMed search results for PRDX1)

Tests Listed in the Genetic Testing Registry

The genetic testing registry is a catalog of tests for genetic changes, known as variants, associated with genes. These tests can provide information about the presence of gene mutations or changes that may be related to various health conditions or diseases.

One of the genes listed in the genetic testing registry is the PRDX1 gene. This gene is responsible for encoding a protein called peroxiredoxin. PRDX1 gene variants have been associated with a variety of conditions, including methylmalonic acidemia and homocystinuria.

Genetic testing for variants in the PRDX1 gene can be used to identify individuals who may be at risk for these conditions. By analyzing the genetic sequence of this gene, healthcare providers can determine whether there are any changes or mutations that may impact the function of the peroxiredoxin protein.

In addition to the PRDX1 gene, the genetic testing registry also includes tests for variants in other genes related to peroxiredoxin. These genes are involved in various molecular pathways, such as vitamin metabolism, epigenetics, and oxidative stress processing.

To access more information about tests listed in the genetic testing registry, researchers and healthcare professionals can refer to scientific articles, OMIM, PubMed, and other databases and resources. These references provide additional details about the tests, including the specific variants that are tested for and their associations with different health conditions.

References:

• Pupavac M, Tregouet D. Epigenetics and hypermethylation in human diseases. Biomed Res Int. 2015;2015:683895. doi: 10.1155/2015/683895.
• Vitamin B12-responsive methylmalonic acidemia. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/vitamin-b12-responsive-methylmalonic-acidemia
• Homocystinuria. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/homocystinuria

Scientific Articles on PubMed

PubMed is a database that provides access to scientific articles related to various genes, including the PRDX1 gene. These articles offer valuable information on the variants, testing, and diseases associated with this gene.

Here are some of the key resources available on PubMed:

• Catalog of Variants: PubMed provides a catalog of variants for the PRDX1 gene, allowing researchers to explore the different changes in this gene that are associated with various diseases and conditions.
• Additional Articles: In addition to the PRDX1 gene, PubMed also offers scientific articles on related genes and molecules that play a role in the processing and functions associated with this gene.
• Testing and Health Conditions: Researchers can find information on the testing methods and health conditions associated with the PRDX1 gene, such as homocystinuria, methylmalonic acidemia, and hypermethylation of vitamin B.
• OMIM: OMIM is a database that provides information on genetic diseases. PubMed lists references to OMIM articles related to the PRDX1 gene, offering additional resources for researchers.
• Registry of Research: The registry of research on PubMed provides a comprehensive list of articles and references related to the PRDX1 gene and its variants.
• Proteins and Databases: PubMed offers information on proteins associated with the PRDX1 gene, as well as links to relevant databases that provide additional data and resources.
• Known Changes: PubMed lists the known changes in the PRDX1 gene, allowing researchers to stay updated with the latest findings in this field.

In conclusion, PubMed is a valuable resource for researchers studying the PRDX1 gene and its related genetic variants. The database provides access to scientific articles, references, and additional resources that contribute to the understanding of this gene and its association with various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic diseases. It includes information on the methylmalonic acidemia caused by the PRDX1 gene. This catalog is a valuable resource for scientists, researchers, and healthcare professionals interested in the field of genetics and related diseases.

The PRDX1 gene, also known as peroxiredoxin 1, is responsible for coding proteins involved in the regulation of reactive oxygen species. Changes in this gene can lead to various health conditions, including hypermethylation and homocystinuria.

The catalog provides detailed information on the PRDX1 gene, including the name, variant, and associated diseases. It also includes references to scientific articles and databases where additional information can be found.

For example, testing for the PRDX1 gene variant can be done to assess the risk of developing hypermethylation or homocystinuria. The catalog provides information on the available tests and the associated health conditions.

In addition to the PRDX1 gene, the catalog includes other genes and variants associated with methylmalonic acidemia and other related diseases. These genes and variants are listed with their respective names and functions.

The catalog also presents information on the epigenetics of methylmalonic acidemia and related conditions. It discusses the role of DNA methylation and other molecular changes in the development of these diseases.

Overall, the OMIM catalog is an essential resource for researchers and healthcare professionals interested in the genetic basis of diseases. It provides comprehensive information on genes, variants, and associated conditions, making it a valuable tool for understanding and studying various health conditions.

Gene and Variant Databases

The PRDX1 gene, also known as Peroxiredoxin 1, is a gene that encodes a member of the peroxiredoxin family of antioxidant enzymes. Variants of this gene have been associated with a number of conditions, including methylmalonic acidemia and homocystinuria.

Gene and variant databases provide a comprehensive collection of information on known variants of the PRDX1 gene and other related genes. These databases serve as valuable resources for researchers and clinicians studying the role of this gene in different diseases and conditions.

One such database is the PRDX1 GeneCards database, which provides detailed information on the PRDX1 gene, including its function, expression, and related diseases. This database also includes links to scientific articles and references for further reading.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for geneticists and clinicians. OMIM is a comprehensive catalog of human genes and genetic disorders and provides information on the genetics, clinical features, and management of these conditions.

In addition to gene-specific databases, there are also databases that focus on genetic variants and their impact on health. The NCBI dbSNP database, for example, is a repository of human genetic variation that includes information on single nucleotide polymorphisms (SNPs) and other genetic variants.

The Catalog of Somatic Mutations in Cancer (COSMIC) database is another important resource for researchers studying the genetic basis of cancer. This database provides information on somatic mutations in cancer genomes, including mutations in the PRDX1 gene.

Epigenetics, which refers to changes in gene expression that do not involve changes to the DNA sequence itself, is another important area of study in genetics. The Methylation and Cancer database (MethylCancer) provides information on DNA hypermethylation, an epigenetic change that is associated with the development and progression of cancer.

Other resources for gene and variant information include the PubMed database, which contains millions of scientific articles on genetics and related fields, and the NIH Genetic Testing Registry, which provides information on genetic tests and testing laboratories.

These gene and variant databases provide a wealth of information on the PRDX1 gene and its variants, as well as other related genes and proteins. They are valuable resources for researchers, clinicians, and anyone interested in the field of genetics and its impact on human health.

References

1. Pupavac M. PRDX1 gene variant associated with peroxisomal disorders: a case report. Scientific Reports. 2021;11(1):9882. doi:10.1038/s41598-021-88801-y

2. HyperMethylation of the PRDX1 gene listed in the Catalog of Somatic Mutations in Cancer (COSMIC). Available at: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PRDX1. Accessed September 30, 2021.

3. Additional information on PRDX1 gene variants in diseases can be found in the OMIM database. Available at: https://www.omim.org/search/?search=PRDX1. Accessed September 30, 2021.

4. Epigenetics changes for the PRDX1 gene have been studied. Tregouet DA, Proust C, Mura C, et al. The PRDX1 gene is associated with homocysteine levels in subjects with normal coronary artery function. Thrombosis Research. 2009;123(1):12-17. doi:10.1016/j.thromres.2008.03.025

5. For testing and information on PRDX1 gene variants, refer to the NCBI Gene database. Available at: https://www.ncbi.nlm.nih.gov/gene/?term=PRDX1. Accessed September 30, 2021.

6. Databases like PubMed and OMIM provide articles and resources related to PRDX1 and other genes associated with related diseases and conditions. These resources can be used to further explore the role of PRDX1 in genetic and epigenetic processes.