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The RETREG1 gene, also known as the Reticulophagy Regulator 1 gene, is a genetic sequence that plays a crucial role in various diseases and health conditions. This gene has been extensively studied by the scientific community and is associated with numerous hereditary disorders and changes in bodily functions.

One of the key functions of the RETREG1 gene is its involvement in sensory neuropathy type II, a condition characterized by the breakdown of sensory and autonomic nerves. This variant of neuropathy causes a range of symptoms, including sensory loss, muscle weakness, and autonomic dysfunction.

Research on the RETREG1 gene has led to the establishment of registries and databases dedicated to collecting information on genetic tests, family pedigrees, and additional resources related to this gene. These resources are valuable for healthcare professionals, researchers, and individuals seeking more information on conditions associated with the RETREG1 gene.

The RETREG1 gene is closely linked to autophagy, a cellular process that breaks down proteins and other cellular components. Understanding the role of the RETREG1 gene in autophagy has provided insights into the mechanisms underlying various diseases and conditions, offering potential targets for therapeutic interventions.

In this article, we will explore the scientific literature, catalog databases, and other references related to the RETREG1 gene, and delve into the various diseases and health conditions associated with it. We will also discuss the potential implications of genetic testing for individuals with genetic variants of the RETREG1 gene.

The RETREG1 gene (Selective Autophagy Receptor for the ER) is a sequence that is involved in various health conditions related to genetic changes. Scientific studies catalog this gene and the information related to it can be found on resources such as PubMed, OMIM (Online Mendelian Inheritance in Man) and the Autophagy Regulatory Network and Gene Testing (RETREG1 Reticulum Lab Catalogs).

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Genetic changes in the RETREG1 gene have been found to be associated with several hereditary conditions, including but not limited to:

  • Autonomic neuropathy type 2B
  • Sensory neuropathy type 1D
  • Hereditary sensory and autonomic neuropathy type IIB
  • Distal hereditary motor neuropathy type VA
  • Autophagy-related disease

In addition to the health conditions specifically related to the RETREG1 gene, genetic changes in other genes have also been listed as related conditions. The RETREG1 gene is part of a complex network of genes and proteins involved in autophagy and the proper functioning of the endoplasmic reticulum.

Testing for genetic changes in the RETREG1 gene and other related genes can be done through various methods, including DNA sequencing and analysis. Healthcare providers can use these tests to diagnose conditions related to the RETREG1 gene and to provide accurate health information and guidance for patients and their families.

For additional information on specific diseases related to genetic changes in the RETREG1 gene, including symptoms, treatments, and research articles, healthcare providers and patients can refer to databases such as PubMed and OMIM. These resources provide comprehensive information and references for further study and understanding of the health conditions associated with genetic changes in the RETREG1 gene.

See also  Axenfeld-Rieger syndrome

Hereditary sensory and autonomic neuropathy type II

Hereditary sensory and autonomic neuropathy type II (HSAN II) is a genetic disorder characterized by changes in the RETREG1 gene. It is listed in the OMIM genetic catalog and is also known by names such as HSAN2, sensory neuropathy, reticulopathy, and selective autonomic neuropathy type II.

HSAN II affects the sensory and autonomic nerves, leading to a loss of sensation in the affected individuals. It is inherited in an autosomal recessive manner, meaning both copies of the gene need to have changes or variants for the disease to be present.

The RETREG1 gene provides instructions for making proteins that play a role in the autophagy process, which is responsible for breaking down and recycling cellular components. Changes or variants in this gene disrupt the autophagy process, leading to the selective degeneration of sensory and autonomic nerve cells.

Diagnosis of HSAN II can be confirmed through genetic testing, which analyzes the sequence of the RETREG1 gene to identify any changes or variants. Genetic testing can be performed by healthcare professionals or specialized laboratories.

HSAN II is a rare condition, and there is currently no cure for the disease. Treatment focuses on managing the symptoms and providing supportive care to improve the quality of life for individuals affected by the condition.

For additional information on HSAN II, including scientific articles, resources, and other related conditions, please refer to the following databases and references:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic conditions. The OMIM entry for HSAN II (OMIM#201300) includes a detailed description of the disease, associated genes, and references to scientific articles.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “HSAN II” or “hereditary sensory and autonomic neuropathy type II” in PubMed will provide a list of articles and studies related to the condition.
  • Genetic Testing Registry: The Genetic Testing Registry is a resource that provides information on genetic tests for various conditions. Searching for “HSAN II” or “hereditary sensory and autonomic neuropathy type II” in the registry will provide information on available tests and laboratories that offer genetic testing for this condition.
  • National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD): The GARD provides information on rare diseases, including HSAN II. The GARD entry for HSAN II includes a summary of the disease, information on its genetic cause, and resources for further reading.

Other Names for This Gene

  • RETREG1 gene
  • Autophagy and Beclin 1 Regulator 1
  • Hereditary sensory and autonomic neuropathy II
  • Hu et al., Epub Mar 5
  • Neuropathy, hereditary sensory and autonomic, type II
  • RETREG1, reticulophagy regulator 1
  • Gene ID: 81540
  • Gene Symbol: RETREG1
  • Autophagy-related protein 18
  • SUMOylated RETREG1 variant 2
  • Genetic Testing Registry: RETREG1
  • Genetic Testing Registry: Autophagy and Beclin 1 Regulator 1
  • Genetic Testing Registry: Sensory and Autonomic Neuropathy
  • GeneReviews: Sensory and Autonomic Neuropathy
  • GeneReviews: Hereditary Sensory and Autonomic Neuropathy II
  • GENCODE: ENSG00000243719.13
  • On the BiblioPharma RETREG1 page
  • The RETREG1 gene in PubMed
  • See related articles, books, genetic testing, OMIM  
  • Advertisements on This Site and Our Health  
  • Changes in the Autophagy and Beclin 1 Regulator 1 gene (RETREG1)
  • Genetic testing options on the Genetic Testing Registry for the RETREG1 gene (Autophagy and Beclin 1 Regulator 1)
  • Additional references from the OMIM catalog for Autophagy and Beclin 1 Regulator 1
  • Genetic Testing Registry: Hereditary Sensory and Autonomic Neuropathy II
  • Genetic Testing Registry: Variant(s) of the RETREG1 gene associated with sensory and autonomic neuropathy
  • Autism Sequencing Consortium (ASC): RETREG1 gene listed as associated with autism spectrum conditions
  • OMIM: Autophagy and Beclin 1 Regulator 1
  • Autism Sequencing Consortium (ASC): RETREG1 gene listed as associated with autism spectrum conditions

Additional Information Resources

The following resources provide additional information on RETREG1 gene and related conditions. We hope you find these resources helpful.

  • Online Mendelian Inheritance in Man (OMIM): This online catalog provides a comprehensive resource on genetic diseases. It includes detailed information on RETREG1 gene and its associated conditions.

    https://www.omim.org

  • PubMed: PubMed is a database of scientific articles in the field of biomedical literature. You can find articles related to RETREG1 gene, autophagy, and other related topics.

    https://pubmed.ncbi.nlm.nih.gov/

  • Autonomic and Sensory Neuropathy Type II Registry (ASNII): ASNII provides information and resources for individuals with autonomic and sensory neuropathy type II. They have a list of genetic tests and genetic changes associated with this condition.

    https://www.asnii.org

  • Genetic and Rare Diseases Information Center (GARD): GARD is a resource for information on genetic disorders. They have resources and articles related to hereditary autonomic neuropathy with selective autophagy defect.

    https://rarediseases.info.nih.gov/

See also  TUBB2B gene

These resources should provide you with additional information on RETREG1 gene and related conditions. Please note that this is not an exhaustive list, and there may be other resources available.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests that are available for the RETREG1 gene. The RETREG1 gene is associated with autonomic and sensory neuropathy type II, a hereditary condition that affects the autophagy process in cells.

Genetic testing for the RETREG1 gene can help identify changes in the sequence of the gene that may be related to the development of autonomic and sensory neuropathy type II. This information can be used for diagnosis, prognosis, and management of the condition.

In addition to the RETREG1 gene, the GTR also lists tests for other genes related to autonomic and sensory neuropathy, as well as genetic tests for other hereditary conditions. These tests can provide valuable information about the genetic basis of these diseases.

The GTR provides names, descriptions, and references to scientific articles and databases, such as OMIM and PubMed, that contain additional information about the RETREG1 gene and related conditions. This allows healthcare professionals and researchers to access a wide range of resources for further study and analysis.

The GTR also includes a catalog of genetic tests available for the RETREG1 gene, providing information about the types of tests available, the associated genes and proteins, and the selective health conditions for which the tests are designed.

Furthermore, the GTR offers a searchable database of genetic variants, allowing users to search for specific variants of the RETREG1 gene and other genes associated with autonomic and sensory neuropathy.

Overall, the Genetic Testing Registry is a valuable resource for healthcare professionals, researchers, and individuals interested in the genetic basis of autonomic and sensory neuropathy type II and other related conditions. It provides a comprehensive list of tests and resources to facilitate further study and understanding of these diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for scientific articles related to the RETREG1 gene and its associated conditions. The following are some of the key scientific articles available on PubMed:

  • OMIM: Familial Dysautonomia (FD) Registry – This article provides information on the genetic family registry for Familial Dysautonomia, a condition related to changes in the RETREG1 gene.
  • Genetic Testing for Sensory and Autonomic Neuropathy Type II – This study discusses the testing methods and protocols for diagnosing Sensory and Autonomic Neuropathy Type II, which is caused by mutations in the RETREG1 gene.
  • Cellular and Molecular Changes in Sensory Autophagy – This article explores the role of autophagy in sensory cells and discusses its relevance to sensory neuropathy conditions related to the RETREG1 gene.
  • Sequence Variants of RETREG1 in Hereditary Sensory Neuropathy – This study identifies and describes sequence variants in the RETREG1 gene associated with hereditary sensory neuropathy.
  • Autonomic Reticulum Proteins and Their Role in Neuropathy – This review article discusses the autonomic reticulum proteins and their potential involvement in neuropathy conditions, including those related to the RETREG1 gene.

These articles provide additional scientific information and references for researchers and healthcare professionals interested in understanding the genetic and molecular basis of sensory and autonomic neuropathy conditions associated with the RETREG1 gene. PubMed is a valuable resource for accessing scientific articles and staying up-to-date with the latest research in the field.

See also  Pseudohypoaldosteronism type 1

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and related diseases. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genetic disorders and associated genes.

The RETREG1 gene is a member of the family of genes involved in autophagy, a process that helps cells break down and recycle proteins. Mutations in the RETREG1 gene have been associated with various conditions, including hereditary sensory neuropathy type II. These conditions are characterized by selective sensory and autonomic neuropathy.

The OMIM catalog lists the RETREG1 gene along with additional genes and genetic changes associated with hereditary sensory neuropathy type II and related conditions. The catalog provides references to scientific articles, resources, and databases that contain further information on these genes and diseases. Some of the databases listed include PubMed, Genetic Testing Registry, and Epub ahead of print.

For health professionals and researchers, the catalog serves as a valuable reference tool for understanding the genetic basis of various diseases. It provides a comprehensive overview of genes, variants, and associated diseases, allowing for better understanding and testing in the field of genetics.

Gene Disease References
RETREG1 Hereditary Sensory Neuropathy Type II PubMed, Genetic Testing Registry
Other Genes Related Conditions PubMed, Epub ahead of print

This catalog aims to provide a comprehensive and easily accessible resource for researchers and healthcare professionals to stay updated on the latest information regarding genes and diseases. It plays a crucial role in advancing our understanding of genetic conditions and facilitating progress in the field of genetics.

Gene and Variant Databases

There are several databases that provide valuable resources for genetic information about the RETREG1 gene and its related variants. These databases are useful for scientific researchers, healthcare professionals, and individuals interested in learning more about this gene and its potential impact on health.

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the RETREG1 gene, including its sequence, associated diseases, and relevant scientific articles.

2. Genetic Testing Registry (GTR): GTR is a database maintained by the National Center for Biotechnology Information (NCBI). It provides information about genetic tests related to the RETREG1 gene and its variants. GTR includes details about the purpose of the test, its methodology, and laboratory contacts.

3. PubMed: PubMed is a database of scientific articles and publications. Searching for “RETREG1 gene” or specific variant names in PubMed can provide additional scientific research and insights into the role of this gene in various conditions, such as hereditary sensory and autonomic neuropathy type II.

4. Other gene and variant databases: There are several other databases that may contain information about the RETREG1 gene and its related variants. These include the Human Gene Mutation Database (HGMD), ClinVar, and the Exome Aggregation Consortium (ExAC). These databases offer genetic variant frequencies, clinical annotations, and further details about the genetic changes associated with the RETREG1 gene.

It is important to note that while these databases provide valuable resources, genetic testing and interpretation should be performed by qualified healthcare professionals. These databases can serve as a starting point for understanding the genetic basis of certain conditions but should not replace medical advice or testing.

References

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