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The FECH gene, also known as ferrochelatase, is a gene that encodes the enzyme responsible for catalyzing the insertion of iron into protoporphyrin IX, the final step in heme biosynthesis. Mutations in this gene can lead to changes in the expression or function of ferrochelatase, which can result in various genetic conditions, including porphyria.

Porphyrias are a group of rare genetic disorders that affect the production of heme, a critical component of hemoglobin and other important proteins in the body. Mutations in the FECH gene can disrupt the production of heme, leading to an accumulation of porphyrins in the body and causing symptoms such as skin sensitivity to sunlight, abdominal pain, and neurological abnormalities.

Information on the FECH gene and related porphyria variants can be found in various scientific databases and resources, including PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide additional information on the genetic changes associated with porphyria, as well as the available diagnostic tests and treatment options.

Articles and research papers listed in PubMed provide further insight into the role of the FECH gene in porphyria and its expression in various tissues and cell types. The PubMed database also includes references to other genetic studies and diseases related to the FECH gene, offering a comprehensive view of its importance in human health.

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For individuals seeking more information on porphyria and the FECH gene, the American Porphyria Foundation and the Porphyria Registry offer additional resources and support. These organizations provide information on the latest research, clinical trials, and resources for managing the symptoms of porphyria.

Genetic changes in the FECH gene can result in various health conditions. The FECH gene provides instructions for making the enzyme ferrochelatase, which is essential for the formation of heme, a molecule that carries oxygen in the body’s cells. Mutations in this gene can disrupt the normal functioning of ferrochelatase, leading to a reduced production of heme and the accumulation of its precursor molecules.

One of the health conditions related to FECH gene changes is porphyria, a group of rare genetic disorders characterized by abnormalities in the production of heme. Specifically, mutations in the FECH gene can cause erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), which are two forms of porphyria.

To learn more about these conditions, individuals can consult various genetic resources and scientific articles. PubMed, a database of scientific research papers, contains numerous articles on porphyrias and the FECH gene. The Online Mendelian Inheritance in Man (OMIM) database also provides information on genetic diseases, including those related to the FECH gene.

Additional genes may be involved in porphyrias and other health conditions related to FECH gene changes. Genetic testing can help identify these additional genes and provide more information on the specific variant of porphyria or other conditions.

Patients with suspected porphyria can undergo testing to confirm the diagnosis and determine the specific genetic changes involved. The American Porphyria Foundation (APF) maintains a registry of individuals with porphyria and provides resources and support for patients and healthcare providers.

It is important for individuals with porphyria or other genetic conditions related to the FECH gene to manage their health carefully. This may include avoiding triggers that can worsen symptoms, such as certain medications or exposure to sunlight. Patients may also benefit from regular monitoring and treatment by dermatologists and other healthcare professionals experienced in managing porphyrias.

In summary, genetic changes in the FECH gene can lead to various health conditions, including porphyrias. Resources such as PubMed and OMIM provide scientific information on these conditions and the FECH gene. Genetic testing and support from organizations like the APF can further assist individuals in managing their health and understanding their condition.

See also  ABCG8 gene

Porphyria

Porphyria is a group of rare genetic disorders that affect the production of heme, a molecule essential for carrying oxygen in the blood. It is characterized by the accumulation of certain chemicals called porphyrins and porphyrin precursors.

There are several types of porphyria, each caused by a specific enzyme deficiency in the heme biosynthetic pathway. These include acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), and variegate porphyria (VP), among others.

Porphyria can cause a wide range of symptoms, including abdominal pain, skin changes, neurological symptoms, and sensitivity to sunlight. The specific symptoms and their severity vary depending on the type of porphyria.

Genetic testing is available for many of the genes associated with porphyria. Tests can identify variants in genes such as FECH, PPOX, ALAD, and HMBS, among others. Genetic testing can provide important information for diagnosis, treatment, and genetic counseling.

Scientific articles on porphyria can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry. These articles provide information on the genetics, pathophysiology, and clinical presentation of porphyria, as well as guidelines for diagnosis and management.

In addition to genetic testing, other diagnostic tests for porphyria include measurement of porphyrin levels in urine, blood, and stool, as well as enzyme activity assays. These tests can help confirm the diagnosis and determine the specific type of porphyria.

Treatment for porphyria aims to manage symptoms and prevent attacks. This may involve avoiding triggers such as certain medications, alcohol, and exposure to sunlight. Medications and therapies may also be used to reduce porphyrin production or alleviate specific symptoms.

Overall, porphyria is a complex group of disorders with varied clinical presentations and genetic underpinnings. Continued research and understanding of the underlying genes and mechanisms are essential for improving diagnosis, treatment, and patient outcomes.

Other Names for This Gene

  • FECH gene
  • ferrochelatase gene
  • porphyria cutanea tarda gene
  • protoporphyrinogen oxidase gene
  • PCT gene
  • HCP gene

In addition to the primary name “FECH gene,” this gene is also known by various other names. These alternative names reflect different aspects of the gene’s function, expression, and related conditions. The various names for this gene can be useful when searching for additional information, testing resources, or scientific articles related to health and genetic conditions. Some of these alternative names include:

  1. ferrochelatase gene
  2. porphyria cutanea tarda gene
  3. protoporphyrinogen oxidase gene
  4. PCT gene
  5. HCP gene

The FECH gene, or ferrochelatase gene, is involved in the production of the enzyme ferrochelatase. This enzyme plays a critical role in the heme biosynthesis pathway, which is responsible for producing the heme molecule needed for various cellular processes. Mutations or changes in the FECH gene can lead to porphyria cutanea tarda (PCT) and other related diseases.

Porphyria cutanea tarda (PCT) is a group of rare genetic disorders characterized by the impaired activity of the enzyme ferrochelatase, encoded by the FECH gene. PCT is associated with a reduced ability to produce heme and buildup of porphyrin compounds. This condition can lead to sensitivity to sunlight, skin fragility, and other symptoms.

For more information about the FECH gene, its variants, and related diseases, you can refer to the following resources:

  • The Genetic Testing Registry (GTR): a central catalog of genetic tests and their associated information
  • OMIM (Online Mendelian Inheritance in Man): a comprehensive database of human genes and genetic disorders
  • PubMed: a database of scientific articles and references
  • Scientific articles and references listed on PubMed and related databases

These resources provide additional scientific information and references that can help in understanding the genetic basis of porphyria cutanea tarda and related conditions.

Additional Information Resources

For additional scientific information on the FECH gene, related genes, and genetic variants, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – This database provides comprehensive information on genetic disorders and genes. The entry for the FECH gene in OMIM includes citations to relevant scientific articles and links to other resources related to porphyrias and genetic testing. (OMIM entry for the FECH gene)
  • PubMed – PubMed is a database of scientific articles in the field of biomedical research. Searching for “FECH gene” or related terms can provide a list of articles on the topic. (PubMed website)
  • Genetics Home Reference – This website provides consumer-friendly information about the effects of genetic variation on human health. The entry for the FECH gene includes information on its normal function, genetic conditions associated with FECH variants, and links to additional resources. (Genetics Home Reference entry for the FECH gene)
  • Genetic Testing Registry – The Genetic Testing Registry provides information about genetic tests for specific genes and genetic conditions, including the FECH gene. The registry includes information about the purpose, methodology, and availability of genetic tests. (Genetic Testing Registry website)
  • Other databases and resources – There are additional databases and resources that provide information on genes, genetic variants, and related diseases. Some examples include the Catalog of Human Genes and Genetic Disorders (Genetic and Rare Diseases Information Center), the Human Gene Mutation Database, and the ClinVar database. These resources can provide further insights into the role of the FECH gene and its variants in various conditions.
See also  SETBP1 gene

Please note that the information provided above is for reference purposes only. It is always recommended to consult with a healthcare professional or a genetic counselor for personalized advice and guidance regarding genetic testing and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests, including the genes, variants, and diseases they are associated with. It is a valuable resource for researchers, clinicians, and patients seeking information on genetic testing options.

Genes such as the FECH gene, which encodes for the enzyme ferrochelatase, are listed in the GTR. This gene is associated with various conditions, including porphyrias. Mutations in the FECH gene can lead to reduced activity of the ferrochelatase enzyme, which can result in porphyria and other related disorders.

The GTR provides references to scientific articles and databases such as OMIM and PubMed, which contain additional information on the FECH gene and related conditions. These resources can be used to find information on changes in gene expression, variant names, and disease associations.

Testing options for the FECH gene and porphyrias, including variant analysis and expression testing, are listed in the GTR. The database provides information on the availability of tests, their scientific validity, and the conditions they are used for.

In addition to the FECH gene, the GTR catalog includes information on other genes associated with porphyria and related conditions. It serves as a comprehensive resource for genetic testing on a variety of diseases and conditions.

Overall, the GTR is an important tool for accessing information on genetic testing. It provides a wealth of resources and references for researchers, clinicians, and patients seeking to understand the role of genes, such as the FECH gene, in various diseases.

Scientific Articles on PubMed

The FECH gene, which encodes the enzyme ferrochelatase, is associated with various genetic changes that can cause porphyria and other related diseases. The variants in this gene can lead to reduced expression or function of ferrochelatase, resulting in the accumulation of certain compounds in the body.

PubMed, a database of scientific articles, lists several articles and references related to the FECH gene and its association with porphyria. These articles provide information on the genetic changes, testing methods, and health implications of FECH gene variants.

One such article, titled “Genetic changes in the FECH gene and their implications in porphyria” by Gouya et al., explores the different variants of the FECH gene and their effects on porphyria. The authors discuss the clinical features and diagnostic tests for porphyria associated with FECH gene variants.

Another article, “Expression and function of ferrochelatase in porphyrias” by Dermatol Genet, investigates the expression and function of ferrochelatase in patients with porphyrias. The authors analyze the changes in the FECH gene and its impact on the production of heme, a crucial component in the synthesis of hemoglobin.

The OMIM database, a catalog of genetic and genomic information, also provides additional resources on the FECH gene and porphyrias. The database lists the names of different porphyria types associated with FECH gene variants and references to scientific articles discussing these conditions.

See also  FN1 gene

In conclusion, scientific articles and databases such as PubMed and OMIM offer valuable information on the FECH gene and its involvement in porphyria and related diseases. Researchers can access these resources to study the genetic changes, testing methods, and health implications associated with FECH gene variants.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information related to the FECH gene. It provides a curated collection of scientific articles, genetic changes, and related conditions associated with the FECH gene. The catalog includes references from PubMed, databases, and other resources.

The FECH gene is responsible for the production of ferrochelatase, an enzyme that helps in the formation of heme. Changes in this gene can lead to various diseases, including porphyria, a group of disorders that affect the health and function of the nervous system and skin.

In the catalog, you can find additional information about the FECH gene, including genetic variants, expression testing, and compound names. The catalog also lists diseases and conditions associated with mutations in the FECH gene, such as Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP).

References to scientific articles, registry information, and genetic testing resources are available in the catalog. This allows researchers and healthcare professionals to access relevant information about the FECH gene and associated conditions.

The Catalog of Genes and Diseases from OMIM reduces the need to search through multiple sources for information on the FECH gene. It provides a centralized and comprehensive resource for accessing genetic information and references related to the FECH gene and associated diseases.

Gene and Variant Databases

Genetic research has led to the identification of various genes and variants associated with different health conditions. This information is crucial for understanding the genetic basis of diseases and developing targeted treatments and genetic testing.

There are several databases available that provide additional resources and information related to genes and variants. Some of these databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on gene names, genetic changes, and associated phenotypes and diseases.
  • GeneReviews: GeneReviews is a collection of articles that provide detailed information on specific genes, genetic conditions, and associated clinical features.
  • PubMed: PubMed is a database of scientific articles and references. It includes research papers, case reports, and reviews on various genetic conditions, including those related to the FECH gene.
  • Genetic Testing Registry: The Genetic Testing Registry is a central repository for genetic testing information. It includes information on available tests, test utilization, and laboratory names for genetic conditions.

In addition to these databases, there are also specialized databases specific to certain conditions, such as porphyrias. For example, the European Porphyria Registry (EuPorphyria) collects information on patients with porphyria, including genetic testing results and clinical data.

These databases are valuable resources for researchers, clinicians, and individuals interested in the genetic basis of diseases. They provide comprehensive information on gene expression, genetic changes, related diseases, and available testing options.

When referencing information from these databases, it is important to properly cite the sources. This ensures that the original authors and researchers receive proper credit for their work.

References

  • Gouya, L. et al. (2002). Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. The American Journal of Human Genetics, 70(2), 369–375.
  • Gouya, L. et al. (2003). Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria: further evidence of heterogeneity. Archives of Dermatology, 139(12), 1363–1366.
  • Gouya, L. et al. (2005). Genotype-phenotype relationship in erythropoietic protoporphyria. Journal of Medical Genetics, 42(2), e15.
  • Mutations of the FECH gene: an overview. OMIM, Online Mendelian Inheritance in Man; 10/11/2021; https://www.omim.org/entry/612386#0001
  • FECH gene and related conditions: Genetics Home Reference, U.S. National Library of Medicine; 05/20/2021; https://ghr.nlm.nih.gov/gene/FECH#conditions
  • FECH genetic changes: Genetics Home Reference, U.S. National Library of Medicine; 10/01/2021; https://ghr.nlm.nih.gov/gene/FECH#genetic-changes
  • FECH gene: The Human Gene Silencing Database; https://humangenomeproject.de/gene/Cheah/gene/FERROCHELATASE-HOMO-SAPIENS
  • FECH gene: National Center for Biotechnology Information; https://www.ncbi.nlm.nih.gov/gene/2235
  • FECH gene: Genecards; https://www.genecards.org/cgi-bin/carddisp.pl?gene=FECH
  • FECH gene: UniProt; https://www.uniprot.org/uniprot/P22830
  • FECH gene: ClinVar; https://www.ncbi.nlm.nih.gov/clinvar/?term=FECH%5Bgene%5D
  • FECH gene: PubMed; https://pubmed.ncbi.nlm.nih.gov/?term=FECH+gene

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