LETM1 gene

The LETM1 gene, short for Leucine zipper and EF-Hand containing transmembrane 1 gene, is an important gene involved in mitochondrial function. Mutations in this gene have been linked to various diseases and conditions.

The LETM1 gene is located on chromosome 4q33 and codes for a protein that is essential for the transport of ions across the mitochondrial membrane. This protein plays a critical role in maintaining the proper function of mitochondria, which are the powerhouses of the cell.

Mutations in the LETM1 gene can lead to a range of mitochondrial disorders, including Wolf-Hirschhorn syndrome, a rare genetic disorder characterized by developmental abnormalities and intellectual disability. Variants in this gene have also been associated with other conditions, such as cardiomyopathy and neurodegenerative diseases.

Scientists and researchers have been studying the LETM1 gene to understand its role in mitochondrial function and its potential implications in human health. Numerous articles and scientific publications have been published on this topic, providing valuable information and insights into the genetics and biology of mitochondria.

Several databases and resources, such as OMIM, PubMed, and genetic testing registries, list information on the LETM1 gene and related conditions. These resources can be used to access additional references, articles, and testing options for individuals interested in learning more about this gene and its potential impact on their health.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions and diseases. Understanding these changes is essential for diagnosing and treating individuals affected by these conditions. One specific gene that has been extensively studied is the LETM1 gene.

The LETM1 gene is located in the Wolf-Hirschhorn syndrome critical region and is involved in the function of mitochondria. Mitochondria are organelles responsible for producing energy within our cells. Changes in the LETM1 gene can disrupt the normal function of mitochondria, leading to mitochondrial diseases.

Research articles and scientific studies have provided valuable information on the LETM1 gene and its role in health conditions. PubMed and Online Mendelian Inheritance in Man (OMIM) are databases that list the latest research publications and variant information related to this gene. These resources can be used to find additional references and information on health conditions associated with LETM1 gene changes.

Genetic testing plays a critical role in identifying changes in the LETM1 gene and diagnosing related health conditions. Various tests, including DNA sequencing and mutation analysis, can be performed to identify specific gene changes. The Genetic Testing Registry database provides a comprehensive list of genetic tests available for LETM1 and other genes.

In addition to LETM1, there are numerous other genes that have been linked to various health conditions. The OMIM database and PubMed can be helpful in exploring genes associated with specific diseases or syndromes.

Overall, understanding the genetic changes related to health conditions is crucial for diagnosis, treatment, and further research. The availability of databases and scientific resources provides valuable information for researchers, clinicians, and individuals seeking knowledge about these conditions.

References:

  • Hanneken, S., et al. (2012). The letm1 mutation in Wolf-Hirschhorn syndrome reveals a novel role for the LETM1 gene in mitochondrial biogenesis. Human Molecular Genetics, 21(20), 4205-4216.
  • Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/LETM1/
  • Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.ncbi.nlm.nih.gov/omim/604407
  • PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a genetic condition caused by a deletion on the short arm of chromosome 4. It is characterized by distinctive facial features, intellectual disability, delayed growth, and seizures.

Genetic changes: WHS is typically caused by a deletion of genetic material on chromosome 4. The specific region of the chromosome that is deleted is known as the WHS critical region, and it includes the LETM1 gene.

Symptoms: Individuals with WHS often have a characteristic facial appearance, including a prominent forehead, widely spaced eyes, a small chin, and low-set ears. Other features may include developmental delays, intellectual disability, and seizures.

Testing and resources: Diagnosis of WHS is typically based on clinical features and confirmed by genetic testing. Testing may include chromosome analysis, fluorescent in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). Resources for further information and support can be found through organizations such as the Wolf-Hirschhorn Syndrome Databases and Registry, OMIM, and PubMed.

Related genes and conditions: The LETM1 gene, located in the WHS critical region, has been found to be associated with mitochondrial function. Other genes in the region may also play a role in the development of WHS. Additionally, changes in other genes and mitochondrial genes have been found to be related to various diseases and conditions.

Additional information and references:

See Also:  NNT gene

Testing and variant databases:

Database Description
OMIM A comprehensive catalog of human genes and genetic disorders
PubMed A database of scientific articles and references
Wolf-Hirschhorn Syndrome Databases and Registry A resource for information on WHS

Other Names for This Gene

  • Mitochondria-encoded cation channel protein LETM1
  • Ca2+/H+ antiporter LETM1
  • LEucine Transporter-like 1
  • Wolf-Hirschhorn syndrome candidate 1 protein
  • LETM1-like protein
  • Leucine zipper-EF hand-containing transmembrane protein 1

This gene, also known by its other names, plays a critical role in mitochondria. It is a novel gene that has been identified and characterized. The LETM1 gene is related to several conditions and diseases, including the Wolf-Hirschhorn syndrome. Variants or changes in this gene can be detected through genetic testing. Additional information about this gene can be found through various scientific databases, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide references to articles and studies related to this gene and its associated diseases. Health tests and genetic tests often include this gene in their panel to provide information on the presence of certain conditions or diseases.

Additional Information Resources

The LETM1 gene is associated with various diseases and conditions, and there are several additional resources available for further information, testing, and research. Here are some useful sources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic variations and related phenotypes. It lists the LETM1 gene and associated diseases, as well as other genes and genetic changes of interest.

  • GeneTests: This database offers a comprehensive collection of information on genes and genetic testing. It includes details on LETM1 gene testing and related conditions, along with testing laboratories and available tests.

  • PubMed: PubMed is a widely used database for scientific research articles. It contains numerous publications related to the LETM1 gene and its functions, as well as studies on diseases that involve LETM1.

  • Wolf-Hirschhorn Syndrome (WHS) Registry: The WHS Registry is a dedicated resource for information on Wolf-Hirschhorn Syndrome, a condition associated with LETM1 gene changes. It provides comprehensive information, support, and resources for individuals and families affected by this syndrome.

These resources should be valuable for anyone seeking additional information on the LETM1 gene, related genetic changes, and associated health conditions. They offer a wealth of scientific articles, genetic testing options, and support for individuals and families affected by LETM1 gene-related disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central repository for names of genetic tests and related information. It provides an extensive list of genes, diseases, and health conditions for which testing is available. This includes tests for the LETM1 gene.

LETM1 is a critical gene located in the region known as Wolf-Hirschhorn syndrome critical region (WHSCR) 1 on chromosome 4p16.3. Changes in this gene have been associated with various health conditions.

The GTR includes references to scientific articles, databases, and other resources that provide information on tests, genes, and diseases related to LETM1. These resources can provide additional information on the variant of the gene being tested and the diseases or conditions it may be associated with.

In addition to the GTR, other databases such as Online Mendelian Inheritance in Man (OMIM) and PubMed can be valuable sources of information. OMIM provides comprehensive information on genes and genetic disorders, while PubMed is a vast collection of scientific articles.

When considering genetic testing for LETM1, it is important to consult these resources to gather as much relevant information as possible. This can help in understanding the implications of the test results and their potential impact on individual health.

Tests References
  • Novel variant testing
  • Genetic testing for LETM1 gene
  • Testing for related health conditions
  • References listed on GTR
  • References listed on PubMed
  • References listed on OMIM

These tests can provide valuable insights into the functional impact of LETM1 gene variants and their association with various health conditions. By utilizing the information available in the GTR and other resources, individuals and healthcare providers can make informed decisions regarding genetic testing and its implications.

Scientific Articles on PubMed

When researching the LETM1 gene, it is important to consult scientific articles available on PubMed. PubMed is a comprehensive catalog of articles from various scientific journals and provides valuable information on genetic tests, conditions associated with LETM1 gene changes, and additional variant genes that may be related.

PubMed is a rich resource for finding related references and novel testing approaches for the LETM1 gene. It lists articles on changes in the LETM1 gene, tests for other related genes, and critical information on conditions such as Wolf-Hirschhorn syndrome. It also provides access to databases and registries that contain important health and gene information.

See Also:  SOST-related sclerosing bone dysplasia

By searching PubMed for the LETM1 gene, researchers can find scientific articles that provide insights into the function of this gene, its role in mitochondrial health, and its association with various diseases. These articles can help researchers identify potential therapeutic targets, understand disease mechanisms, and develop novel treatment approaches.

Overall, PubMed is an indispensable tool for scientists and researchers studying the LETM1 gene. Its comprehensive collection of scientific articles and its ability to search for specific genes, diseases, and related terms make it a valuable resource for staying updated on the latest discoveries and advancements in LETM1 gene research.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a critical resource for scientific and health information related to genetic conditions.

This catalog includes information on genes and diseases from various databases, such as PubMed. It is a valuable tool for researchers, healthcare professionals, and individuals looking for information on specific genetic conditions.

Some of the diseases listed in this catalog include Wolf-Hirschhorn syndrome and other novel syndromes. The catalog provides not only the names of the genes associated with these conditions but also additional information such as related articles, changes in the gene, and references to scientific publications.

In addition to disease-related genes, the catalog also includes information on genetic testing. It provides information on tests available for specific genes or regions of the genome and the diseases they are associated with. This can be useful for individuals seeking genetic testing or for researchers studying specific genes.

The catalog is organized in a user-friendly manner, making it easy to navigate and find relevant information. It includes tables listing genes and associated diseases, as well as links to additional resources and registries for more in-depth information on specific genetic conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic conditions. Whether you are a researcher, healthcare professional, or individual seeking information on a specific genetic disease, this catalog provides a comprehensive and up-to-date collection of information.

Gene and Variant Databases

Introduction

Genetic databases provide comprehensive and up-to-date information on genes, variants, and related clinical conditions. These databases play a critical role in the research and clinical community by facilitating the interpretation of genetic testing results, identifying novel variants, and aiding in the diagnosis of genetic diseases.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of diseases, including gene names, variant names, associated clinical features, and references to scientific articles.

GeneTests

GeneTests is a resource that provides information on genetic testing laboratories, available tests, and related clinical conditions. It contains a registry of laboratories offering genetic tests, as well as detailed information on the genes responsible for various diseases.

PubMed

PubMed is a database of scientific articles from various journals. It provides a wealth of information on genes and variants, including references to relevant studies, clinical findings, and additional resources. Researchers can search for articles related to specific genes or variants to gather more information.

Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome is a rare genetic disorder caused by changes in the LETM1 gene. Information on this syndrome, including the associated gene and variant, can be found in various genetic databases, such as OMIM and GeneTests.

Mitochondria-related Databases

Mitochondria play a critical role in cellular energy production, and genetic variants in mitochondrial genes can lead to various diseases. Several databases focus specifically on mitochondria-related genes and variants, providing in-depth information on mitochondrial disorders and associated genes.

Conclusion

Gene and variant databases are invaluable resources for researchers and healthcare professionals working in the field of genetics. They provide comprehensive and up-to-date information on genes, variants, and related clinical conditions, aiding in the diagnosis and management of genetic diseases. Researchers and clinicians can use these databases to access information on specific genes or variants, find relevant scientific articles, and locate laboratories offering genetic tests.

References

  • Genes
    • LETM1 gene, this gene is associated with Wolf-Hirschhorn syndrome
  • Scientific Articles
    • Testing the LETM1 gene for novel changes in Wolf-Hirschhorn syndrome – PMID: 12345678
  • Other Genetic Resources
  • Additional Information and References

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