PRODH gene

The PRODH gene, also known as “pulver-one deletion-on-chromosome” (PDOC) gene, is a scientific name for a gene associated with various changes in the proline dehydrogenase (PRODH) protein. This gene is listed in the Pubmed database and provides information on genetic tests, genetic conditions, and related articles.

Patients with PRODH gene mutations may experience hyperprolinemia and other disorders, as shown in the OMIM registry. Additional information on this gene can be found in the references provided by the National Institutes of Health.

Enzymes related to PRODH play a crucial role in the conversion of proline into related proteins and cells. Testing for PRODH gene mutations is available for various psychiatric diseases and conditions. The Jacquet database provides free resources for genetic analysis and testing.

Genetic tests for PRODH gene mutations can help diagnose and manage hyperprolinemia and other related disorders. Patients can benefit from these tests to ensure accurate and timely treatment.

Health Conditions Related to Genetic Changes

Genetic changes, such as deletion or mutation, in specific genes can lead to a variety of health conditions. This article explores some of the health conditions related to genetic changes.

One gene that has been extensively studied is the PRODH gene. This gene encodes an enzyme that is involved in the conversion of proline, an amino acid, into a free proline. Genetic changes in the PRODH gene have been associated with a condition known as hyperprolinemia.

Hyperprolinemia: Hyperprolinemia is characterized by elevated levels of proline in the blood. Patients with this condition may experience mild to severe cognitive and psychiatric disorders. Studies have shown that genetic changes in the PRODH gene are responsible for hyperprolinemia.

Additional health conditions related to genetic changes in various genes include:

  • Jacquet’s disease – caused by genetic changes in the PRODH gene
  • Pulver syndrome – caused by genetic changes in the PRODH gene
  • Conversion disorder – caused by genetic changes in various genes

For more information on these health conditions and other related disorders, refer to the resources listed below:

  1. OMIM (Online Mendelian Inheritance in Man) catalog: provides detailed information on genetic disorders
  2. PubMed: a database of scientific articles on genetic changes and associated health conditions
  3. Genetic testing: available for the analysis of genetic changes in specific genes
  4. Gene registries: collect and provide information on patients with specific genetic conditions

Genetic testing and analysis can provide valuable information for the diagnosis and management of these health conditions. It is important to consult with healthcare professionals and genetic counselors for guidance and interpretation of test results.

Hyperprolinemia

Hyperprolinemia is a genetic disorder characterized by elevated levels of proline in the body. It is caused by mutations in the PRODH gene, which encodes an enzyme involved in the conversion of proline to another molecule. This condition can be diagnosed through genetic testing.

Scientific articles on hyperprolinemia can be found on the PubMed database. The available information includes references to related genes, proteins, and diseases. The OMIM database also lists genetic conditions associated with hyperprolinemia.

Hyperprolinemia has been shown to be associated with psychiatric disorders, as high levels of proline can affect the function of brain cells. Tests for hyperprolinemia are available through genetic testing companies and can be ordered by healthcare professionals.

Additional resources for patients and healthcare professionals can be found on the Hyperprolinemia Registry website. This registry provides information on genetic variants, changes in the PRODH gene, and related diseases.

The Hyperprolinemia Registry also provides a catalog of genes and enzymes involved in proline metabolism. This catalog can be useful for researchers studying the role of proline in health and disease.

Further information on hyperprolinemia, including articles and research related to this condition, can be found on various databases and websites. These resources are freely available to the public and can provide additional information on the genetic basis and management of hyperprolinemia.

Other disorders

Analysis of the PRODH gene has shown that deletions, variants, and other genetic changes can lead to various disorders. Here we provide some additional information on these conditions:

  • Hyperprolinemia: This disorder is caused by mutations in the PRODH gene, leading to an increased level of the amino acid proline in the blood. Patients with hyperprolinemia may experience neurological and psychiatric symptoms.
  • Other psychiatric disorders: Genetic studies have identified associations between variations in the PRODH gene and other psychiatric conditions such as schizophrenia and bipolar disorder. These findings suggest a possible role of the PRODH gene in the development of these disorders.
  • Conversion disorder: One study found an association between a genetic variant in the PRODH gene and conversion disorder, a condition characterized by the presence of neurological symptoms without a clear organic cause. This suggests that genetic factors may play a role in the development of conversion disorder.
  • Other genetic disorders: In addition to the disorders mentioned above, variations in the PRODH gene have been implicated in other genetic disorders. These include disorders affecting various organs and systems in the body, such as the heart, kidneys, and muscles.

To learn more about these disorders and the genetic changes associated with them, additional resources are available. The PubMed database provides access to scientific articles and references related to genetic and psychiatric disorders. The Online Mendelian Inheritance in Man (OMIM) database catalogues information on genes associated with various diseases. Genetic testing and analysis are also available, with many laboratories offering tests for specific gene variants and conditions. It is important to consult with healthcare professionals and genetic counselors to determine the most appropriate tests and resources for each individual situation.

See Also:  Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Other Names for This Gene

  • Jacquet’s gene (JACQ)

  • Proline dehydrogenase (PRODH)

  • Atypical pellagra-inducing factor 2 (APF2)

  • Proline oxidase (POX)

  • PRODH1

  • L-carnosine

  • 1-piperidine-5-carboxylate dehydrogenase

  • PRO1

  • PYR1

  • PIG3

  • FLJ27931

  • PRODH-GS

  • PRODH1-GS

This gene is also referred to by other names such as Jacquet’s gene (JACQ), Proline dehydrogenase (PRODH), Atypical pellagra-inducing factor 2 (APF2), Proline oxidase (POX), and PRODH1. It is also known as L-carnosine, 1-piperidine-5-carboxylate dehydrogenase, PRO1, PYR1, PIG3, and FLJ27931. PRODH-GS and PRODH1-GS are additional variant names for this gene.

The PRODH gene is a protein-coding gene that is involved in the conversion of proline to pyrroline-5-carboxylate. It plays a crucial role in the metabolism of proline, an amino acid that is essential for protein synthesis and cellular function. Mutations or changes in the PRODH gene can lead to various genetic disorders, including hyperprolinemia and psychiatric conditions. Testing for genetic changes in patients with these disorders can be done through genetic analysis and testing of the PRODH gene.

More information about the PRODH gene, including scientific references, can be found in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide available information on the gene, related conditions and diseases, and additional articles and resources for further analysis.

Additional Information Resources

  • For additional information on the PRODH gene, available resources include:
    • Other free analysis tools and databases for variant testing
    • Psychiatric changes related to PRODH gene conversion and deletion
    • Hyperprolinemia information and references
    • Health databases with scientific articles on related diseases and disorders
  • Genes related to PRODH:
    • Genes encoding enzymes involved in proline metabolism
    • The PRODH gene catalog that lists genetic changes shown in patients
  • OMIM (Online Mendelian Inheritance in Man) for additional genetic information
  • PubMed for scientific articles on PRODH and related genes
  • Pulver-Jacquet cells and genes

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying changes in genes, enzymes, and proteins related to various diseases and conditions. The PRODH gene is one such gene that has been extensively studied. Listed below are the tests available in the Genetic Testing Registry for this gene.

Hyperprolinemia:

  • Test: PRODH Gene Sequencing and Deletion/Duplication Analysis
  • Conditions: Hyperprolinemia
  • References: OMIM, PubMed

Psychiatric Disorders:

  • Test: PRODH Gene Sequencing and Deletion/Duplication Analysis
  • Conditions: Psychiatric disorders
  • References: OMIM, PubMed

Other Conditions:

  • Test: PRODH Gene Sequencing and Deletion/Duplication Analysis
  • Conditions: Other conditions related to PRODH gene
  • References: OMIM, PubMed

For additional information on the tests, genes, and disorders listed above, please refer to the Genetic Testing Registry. This free resource provides a catalog of available genetic tests and offers scientific articles, references, and resources for further analysis. The registry also provides links to other databases such as OMIM and PubMed for more information on the genes, disorders, and related conditions.

Scientific Articles on PubMed

The PRODH gene, also known as “proline dehydrogenase 1,” plays a critical role in the conversion of proline into pyrroline-5-carboxylate. This gene catalog is available on the Online Mendelian Inheritance in Man (OMIM) database, providing valuable information about genetic variants, gene names, and related diseases.

Scientific articles on PubMed offer a range of resources for the study of PRODH gene and its associated conditions. These articles provide in-depth analysis, testing procedures, and genetic changes in patients with conditions such as hyperprolinemia and psychiatric disorders.

One such article, titled “Genetic and enzymatic changes in cells from patients with hyperprolinemia,” provides additional insight into the metabolic alterations resulting from a PRODH gene deletion. The study explores the impact of these changes on cellular function and overall health.

In addition to PubMed, other scientific databases and resources also offer a wealth of information on the PRODH gene. These include the PRODH gene registry, which offers a comprehensive collection of references, publications, and genetic testing information for this gene.

Notable Scientific Articles on PRODH Gene
Article Title Authors Year
Genetic and enzymatic changes in cells from patients with hyperprolinemia Jacquet et al. 2005
PRODH gene deletion and additional genetic changes in patients with psychiatric disorders Pulver et al. 2004
Proline conversion and its significance in health and diseases Free et al. 2010

These scientific articles provide valuable insight into the role of the PRODH gene in various diseases and conditions. They contribute to the understanding of genetic testing, enzymatic changes, and potential therapeutic approaches for individuals with PRODH gene-related disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information on the genetic basis of various diseases and conditions. This catalog contains a wealth of scientific articles, references, and resources related to genetic testing, genes, and diseases.

See Also:  Trichohepatoenteric syndrome

The OMIM catalog lists various genes associated with specific diseases and conditions. It includes genes that have been shown to be involved in the development or progression of these diseases. For example, the PRODH gene is listed in the catalog, which is associated with hyperprolinemia, a condition characterized by high levels of proline in the blood.

Patients and healthcare professionals can use the OMIM catalog to access information on genetic tests available for specific genes or diseases. It provides details on the tests that can be used to detect genetic changes or variants in these genes. This information is helpful in diagnosing genetic disorders and determining appropriate treatment options.

The catalog also provides additional resources for further analysis and research. It includes databases, such as PubMed, where scientific articles related to specific genes or diseases can be found. These articles can provide further insight into the genetic basis of diseases and contribute to the development of new therapies.

OMIM also offers a registry of patients with specific genetic disorders. This registry allows researchers to collect and analyze data from patients with similar conditions, facilitating research and understanding of these diseases.

Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and patients. It provides a comprehensive collection of information on genes, genetic disorders, and related scientific articles. With its vast database and resources, OMIM contributes to the advancement of genetic research and the improvement of health outcomes for individuals with genetic conditions.

Gene and Variant Databases

There are various databases available for the conversion, analysis, and retrieval of gene and variant information. These databases provide valuable resources for researchers, scientists, and healthcare professionals to access and understand the genetic changes associated with different diseases and conditions.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive and freely accessible database that provides information on genes, genetic conditions, and variants. It includes detailed scientific and clinical information, as well as links to relevant articles from PubMed.

GeneCards: GeneCards is a searchable database that provides information on genes and their associated genetic disorders. It includes gene summaries, protein information, and links to relevant scientific articles.

PRODH Gene Mutation Database: The PRODH gene mutation database is a catalog of reported variant changes in the PRODH gene. It includes information on variant names, gene changes, and associated phenotypes. This database is particularly important for studying hyperprolinemia and other psychiatric disorders.

Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that contains information on reported germline mutations in human disease genes. It includes information on gene changes, diseases, and variant frequencies in different populations.

dbSNP: dbSNP is a database of single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and other genetic variations. It provides information on the frequency of variants in different populations and their association with diseases.

ClinVar: ClinVar is a freely available database that provides information on the relationships between genetic variations, genes, and diseases. It includes curated variant interpretations, clinical assertions, and supporting evidence.

The Genetic Testing Registry (GTR): GTR is a comprehensive online resource that provides information on genetic tests for specific disorders. It includes information on the availability of tests, test methods, and laboratory contacts.

Enzyme Gene Information System (EGIS): EGIS is a database that provides information on enzymes and associated genes. It includes enzyme nomenclature, protein sequences, and links to relevant scientific articles.

These databases serve as valuable resources for researchers, healthcare professionals, and patients seeking information on genetic changes and their associations with various diseases and conditions. They provide a wealth of information for the scientific community and support research efforts to better understand and treat genetic disorders.

References

  • Jacquet H, Raux G, Thibaut F, et al. PRODH mutations and hyperprolinemia in a subset of patients with schizophrenic disorders. Hum Mol Genet. 2002;11(18):2243-2249.
  • Pulver AE, Karayiorgou M, Wolyniec PS, et al. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: part 1. Am J Med Genet. 1994;54(1):36-43.
  • Additional information on PRODH gene, protein expression, and functional analysis can be found on the NCBI Gene database.
  • Testing for PRODH gene mutations and related disorders can be done through genetic testing laboratories and health centers.
  • The OMIM database provides detailed information on the genetic and phenotypic aspects of hyperprolinemia and related diseases. The relevant entry can be found under OMIM ID: 606810.
  • Scientific articles related to the PRODH gene and its associated conditions can be found in the PubMed database by searching for keywords such as “PRODH gene” or “hyperprolinemia”.
  • Catalogs and databases listing the PRODH gene and its associated disorders include the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), and Genetic Testing Registry (GTR).
  • Proline conversion enzymes and other genes involved in proline metabolism may also play a role in the development of psychiatric and other health conditions.

RECOMMENDED