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The LARS2 gene, also known as Leucine–tRNA ligase, encodes a protein that is part of a family of enzymes called aminoacyl-tRNA synthetases. These enzymes play a crucial role in protein synthesis by attaching specific amino acids to their corresponding transfer RNA molecules. Mutations in the LARS2 gene cause a variety of genetic conditions, including Perrault syndrome and Perrault syndrome 2.

Information about the LARS2 gene and its associated conditions can be found in various scientific databases and resources. For example, the LARS2 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on the genetic basis of human diseases and conditions. Additionally, the gene is referenced in numerous scientific articles and publications, which describe the molecular changes and clinical presentations associated with LARS2 gene mutations.

Medical professionals and researchers can use genetic testing to identify specific changes in the LARS2 gene and conduct further studies to understand the impact of these mutations on health. These tests can help diagnose individuals with LARS2-related syndromes and guide appropriate treatment strategies. Moreover, the identification of LARS2 gene mutations can provide valuable information for families affected by these conditions, as well as contribute to the ongoing research on genetic diseases.

Overall, the LARS2 gene is an important gene linked to various genetic conditions. Understanding the role of this gene and its associated syndromes can lead to improved diagnosis, management, and treatment of affected individuals. The availability of resources such as genetic databases, scientific articles, and testing services allows healthcare professionals and researchers to gather and disseminate relevant information on the LARS2 gene and related conditions.

Genetic changes in the LARS2 gene can lead to various health conditions. The LARS2 gene provides instructions for making a protein called mitochondrial leucyl-tRNA synthetase. This protein is involved in the process of protein synthesis, specifically in attaching the amino acid leucine to its corresponding transfer RNA (tRNA) molecule. This step is essential for the accurate reading of genetic instructions and the production of functional proteins.

Specific changes in the LARS2 gene can result in a variant form of mitochondrial leucyl-tRNA synthetase or a complete loss of protein function. These genetic changes can disrupt the normal protein synthesis process, leading to various health conditions and diseases.

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One health condition related to genetic changes in the LARS2 gene is Perrault syndrome. Individuals with Perrault syndrome experience hearing loss in females and reproductive abnormalities in both males and females. Genetic changes in the LARS2 gene have been identified in some individuals with Perrault syndrome.

Additional health conditions and diseases related to genetic changes in the LARS2 gene may exist but have not been listed in this article. It is important to consult the Online Mendelian Inheritance in Man (OMIM) database, medical literature, and genetic testing resources for more information on specific conditions related to the LARS2 gene.

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed database for scientific articles
  • Genetic testing resources
Resources:
See also  ITGB4 gene

References:

  1. OMIM entry on LARS2 gene
  2. Scientific articles on genetic changes in the LARS2 gene

Perrault syndrome

Perrault syndrome is a rare genetic condition that affects both males and females. It is characterized by hearing loss and ovarian dysfunction in females.

There are several resources available to learn more about Perrault syndrome. Databases such as PubMed provide scientific articles and references related to this syndrome. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for genetic information and names of related genes.

In Perrault syndrome, mutations in the LARS2 gene have been identified as one of the causes. LARS2 encodes a ligase enzyme involved in protein synthesis. Variants in this gene can lead to changes in the structure or function of the protein, resulting in the symptoms of Perrault syndrome.

Diagnostic testing for Perrault syndrome may involve genetic testing to identify mutations in the LARS2 gene. Other genes may also be tested depending on the specific symptoms and presentation of the individual. Genetic counseling may be beneficial for individuals and families affected by this syndrome.

In addition to Perrault syndrome, other diseases and conditions may have similar symptoms. It is important to consult medical professionals and refer to reputable resources for accurate diagnosis and additional information.

The Perrault Syndrome Registry is a valuable resource for individuals and families seeking support and information. It serves as a central repository for data on individuals diagnosed with Perrault syndrome and provides a platform for collaboration and research.

References:

  1. Ching SN, Hazrati LN. Perrault Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3213/
  2. Perrault Syndrome. OMIM Online Mendelian Inheritance in Man. Johns Hopkins University. Accessed October 22, 2021. Available from: https://www.omim.org/entry/233400
  3. Genetic Testing Registry. LARS2. National Library of Medicine. Accessed October 22, 2021. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/558328/overview/

Other Names for This Gene

The LARS2 gene is also known by several other names:

  • Leucyl-tRNA synthetase, cytoplasmic 2
  • Perrault Syndrome 4
  • Ligase I, cytoplasmic 2
  • Leucyl-tRNA synthetase-like protein 2
  • Leucyl-tRNA synthetase 2, mitochondrial precursor

These alternative names are used to refer to the same gene and its associated proteins in scientific articles, databases, and genetic testing resources. The LARS2 gene is listed in various resources such as OMIM, which provides information about genetic conditions and related genes.

The LARS2 gene is associated with Perrault syndrome, a rare genetic condition characterized by hearing loss in females and infertility in both males and females. Mutations in the LARS2 gene are known to lead to Perrault syndrome and are detected through specific genetic testing.

References to the LARS2 gene and its associated proteins can be found in scientific articles cataloged in databases like PubMed. Additional information and references about the gene and its variant changes can be found in the LARS2 GeneReviews and the LOVD gene variant databases.

Additional Information Resources

For additional information on the LARS2 gene and related conditions, the following resources may be helpful:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and genetic diseases. The OMIM entry for the LARS2 gene (OMIM ID: *604544) contains information on the gene, associated diseases, and mutations.
  • PubMed: PubMed is a scientific database that provides access to a vast collection of articles on various topics. Searching for “LARS2 gene” or “LARS2 syndrome” in PubMed can lead to scientific articles on the gene, its functions, and related diseases.
  • Genetic Testing Databases: Genetic testing databases, such as the Genetic Testing Registry (GTR), provide information on available genetic tests for specific genes. The GTR entry for the LARS2 gene includes details on testing options and laboratories offering these tests.
  • Specific Disease Registries: Some diseases associated with mutations in the LARS2 gene, such as Perrault syndrome, may have their own disease-specific registries. These registries often provide information on the disease, available resources, and support networks for affected individuals and families.
See also  Cleidocranial dysplasia

Additionally, changes or mutations in the LARS2 gene may lead to changes in the synthesis of specific proteins or ligase enzymes. Health professionals and researchers may find it useful to refer to the scientific literature and databases for more in-depth information on these specific changes and their effects on protein function.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific resource that provides information about genetic tests for this gene. The GTR is a comprehensive catalog of available genetic tests and their associated information. It includes information on gene names and symbols, specific variant changes, genetic conditions, and additional resources such as articles and references.

Tests listed in the GTR for the LARS2 gene include:

  • Lead syndromes genetic testing
  • Perrault syndrome genetic testing
  • Genetic testing for other related genes and genetic conditions

The GTR provides detailed information about the tests, including test names, test types, laboratory names, and the conditions they are intended to diagnose or predict. The GTR also provides links to other databases such as OMIM, PubMed, and Genet, which offer additional scientific information about the gene and related conditions.

Genetic tests for the LARS2 gene specifically look for mutations or changes in the LARS2 gene, which codes for a ligase enzyme called leucyl-tRNA synthetase. These tests can help diagnose lead syndromes, Perrault syndrome, and other related genetic conditions.

Overall, the GTR is a valuable resource for healthcare providers and researchers seeking information on genetic tests for the LARS2 gene and related conditions. It provides a comprehensive catalog of available tests, along with scientific references and additional resources.

Scientific Articles on PubMed

PubMed is a database of scientific articles that provides valuable information on genetic changes, genes, and proteins. It serves as a registry for the names of genes and offers references to additional resources.

For the LARS2 gene, PubMed lists articles on specific conditions like Perrault syndrome and the catalog of mutations. These articles provide information on the genetic changes and lead to a better understanding of the syndrome.

Publications on LARS2 also include scientific research on the function of the gene and the role of synthetases, ligases, and other proteins. These articles contribute to the knowledge of genetic testing, health information, and the diagnosis of related diseases.

  • Articles indexed by PubMed can be accessed through online databases and other resources.
  • OMIM, the Online Mendelian Inheritance in Man, offers a comprehensive collection of articles related to genetic conditions.
  • Testing for LARS2 gene mutations can be performed using laboratory tests that examine the specific changes in the gene.

In conclusion, PubMed is an essential tool for scientists and researchers to access scientific articles that provide valuable information on the LARS2 gene, genetic changes, and associated diseases. It serves as a comprehensive resource for understanding specific conditions and leads to advancements in the field of genetics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions, providing information on the relationships between genes and diseases. It is an invaluable resource for researchers, clinicians, and patients alike.

This catalog contains information on genes and genetic conditions in various formats like text, references, articles, and databases. OMIM provides detailed information on genes associated with specific diseases, including gene variants, mutations, and changes in protein function.

See also  SLC4A1-associated distal renal tubular acidosis

The LARS2 gene is one of the genes listed in the OMIM catalog. LARS2 encodes the enzyme leucyl-tRNA synthetase, which is involved in protein synthesis. Mutations in the LARS2 gene are associated with Perrault syndrome, a rare genetic disorder characterized by hearing loss and ovarian dysfunction.

For individuals with symptoms suggestive of Perrault syndrome, genetic testing can be performed to identify mutations in the LARS2 gene. This can provide a definitive diagnosis and guide appropriate management and treatment strategies.

The OMIM catalog provides additional information on genes and diseases related to Perrault syndrome and other conditions. It also includes references to relevant scientific literature published in PubMed, allowing users to explore the scientific basis of the associations between genes and diseases.

In addition to OMIM, there are other resources and databases available for genetic testing and information on specific conditions. These resources can help healthcare providers and individuals access the most up-to-date information on genes, diseases, and available tests.

By leveraging the wealth of information available in OMIM and other resources, researchers and clinicians can lead the way in understanding the genetic basis of diseases, improving diagnosis and treatment, and ultimately improving the health outcomes of affected individuals.

Gene and Variant Databases

Gene and variant databases are an essential resource for understanding genetic diseases and the genes and mutations that cause them. These databases provide information on the function, structure, and clinical significance of genes and variants, helping researchers and clinicians in their efforts to diagnose and treat genetic conditions. They are invaluable tools that allow scientists to catalog and analyze genetic changes associated with specific diseases and syndromes.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic diseases, their associated genes, and the phenotypic effects of gene mutations. OMIM includes detailed descriptions, references to scientific articles, and links to other databases and resources. It is a widely used reference in the field of medical genetics.

Another important database is the Human Gene Mutation Database (HGMD), which focuses specifically on disease-causing mutations in human genes. HGMD provides a curated catalog of genetic changes associated with various diseases and conditions, including the LARS2 gene. It includes information on the clinical significance of mutations and their impact on protein function.

In addition to these general gene databases, there are also specialized databases for specific genes or diseases. For example, the Perrault Syndrome Gene Registry is a database specifically dedicated to mutations in genes associated with Perrault Syndrome, a rare genetic condition characterized by hearing loss and ovarian dysfunction.

Examples of Gene and Variant Databases
Database Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive database of genetic diseases, associated genes, and phenotypic effects
Human Gene Mutation Database (HGMD) A catalog of disease-causing mutations in human genes
Perrault Syndrome Gene Registry A database focusing on mutations in genes associated with Perrault Syndrome

These gene and variant databases provide a wealth of information that is crucial for understanding the genetic basis of diseases and developing targeted genetic tests. They serve as valuable resources for researchers, clinicians, and individuals interested in learning more about the genetic underpinnings of various health conditions.

References

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