The HARS2 gene encodes for a protein called histidyl-tRNA synthetase 2. This gene is involved in the process of protein synthesis, specifically in attaching the amino acid histidine to its corresponding transfer RNA molecule.
Changes or mutations in the HARS2 gene have been linked to a rare genetic disorder known as Perrault syndrome. This syndrome is characterized by hearing loss, changes in ovarian function, and sometimes other neurological problems.
Scientists have conducted research on the HARS2 gene to better understand its function and its role in health and disease. Numerous articles and references on this gene can be found in scientific databases such as PubMed and OMIM. In addition, there are genetic testing resources and registries that list the HARS2 gene as a target for testing in cases of suspected Perrault syndrome or related conditions.
This putative disease-causing gene has been identified as a potential candidate for testing and further scientific investigation. Genetic testing for mutations in the HARS2 gene can provide additional information for individuals and families at risk of developing Perrault syndrome or related conditions.
Resources and additional information
– Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the HARS2 gene and its associated diseases.
– PubMed: PubMed is a database of scientific articles and references. It contains numerous articles on the HARS2 gene and its involvement in various diseases.
– Genetic testing: Genetic testing laboratories offer tests specifically designed to detect mutations in the HARS2 gene. These tests can provide diagnostic information for individuals with suspected Perrault syndrome or related conditions.
– Perrault syndrome: Perrault syndrome is a rare genetic disorder characterized by hearing loss and ovarian dysfunction, among other symptoms. The HARS2 gene is one of the genes associated with this syndrome.
– Proteins and synthetases: Histidyl-tRNA synthetase 2, encoded by the HARS2 gene, is an enzyme involved in protein synthesis. It plays a crucial role in attaching the amino acid histidine to its corresponding tRNA molecule.
Health Conditions Related to Genetic Changes
Genetic changes in the HARS2 gene have been found to be associated with various health conditions. The HARS2 gene encodes a putative mitochondrial protein, and mutations in this gene have been linked to Perrault syndrome, a genetic disorder characterized by hearing loss and ovarian dysfunction.
Additional health conditions related to genetic changes in the HARS2 gene include:
- Loss of hearing
- Diseases of the nervous system
Scientific articles and databases such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD) provide references and information on these genetic changes. Genetic testing can be done to identify mutations in the HARS2 gene and to diagnose these health conditions.
The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders, including information on the HARS2 gene and related conditions.
Health professionals can use this information for diagnostic purposes and to guide treatment decisions. Genetic testing can help determine the specific variants and changes in the HARS2 gene that are associated with these health conditions, allowing for personalized and targeted interventions.
It is important to consult with healthcare professionals and to use reliable resources when seeking information on health conditions related to genetic changes. Services and resources such as genetic counseling and support groups can provide assistance and guidance in understanding and managing these conditions.
Perrault syndrome
Perrault syndrome is a rare genetic disorder that affects both males and females. It is characterized by the presence of hearing loss and reproductive abnormalities. The syndrome was first described in 1951 by the French geneticist Christian Perrault.
The HARS2 gene is one of the genes associated with Perrault syndrome. Variants in this gene have been found in individuals with the syndrome. The HARS2 gene provides instructions for making a protein that is involved in the production of mitochondrial synthetases, which are enzymes that help in the synthesis of proteins.
In addition to the HARS2 gene, other genes have also been implicated in Perrault syndrome. Mutations in these genes can result in the development of the syndrome. These genes include CLPP, LARS2, and TWNK, among others.
Information on Perrault syndrome, including genetic testing resources, can be found in various scientific databases. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions that provides information on the genetic changes associated with Perrault syndrome. PubMed is a database of scientific articles and references, where additional information on the syndrome can be found.
Testing for Perrault syndrome involves genetic tests that identify mutations in the genes associated with the condition. These tests can help diagnose the syndrome and provide information on its genetic cause.
Resources for Perrault syndrome
- OMIM: https://www.omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
References
- Perrault Syndrome. GeneReviews. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1194/
- Roediger FC, et al. Perrault syndrome: report of a Turkish family with a novel HARS2 mutation and literature review. eNeurologicalSci. 2019;15:100193.
- Shaikh TH, et al. Perrault syndrome: challenges in making a diagnosis at the exome sequencing era. Am J Med Genet A. 2018;176(2):395-399.
Other Names for This Gene
The HARS2 gene is also known by other names, including:
- HAS2
- HARSL1
- HumARS
- Lysyl-tRNA synthetase, mitochondrial
- Putative aminoacyl-tRNA synthetase HAS2
- Histidyl-tRNA synthetase-like 1
These names are used to refer to the same genetic variant in scientific literature, genetic testing, and related resources. The HARS2 gene has been studied in various conditions and related syndromes, such as Perrault syndrome, hearing loss, and other genetic diseases.
More information about the HARS2 gene and its related conditions can be found in the following resources:
- The HARS2 gene catalog on OMIM
- PubMed articles on genetic testing and changes in HARS2
- Databases and registries for genes and genetic conditions
- Health information articles on HARS2 and related proteins
- References and resources on HARS2 and related diseases
Further research is needed to fully understand the role of HARS2 gene mutations and their impact on human health.
Additional Information Resources
- OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive list of genes, mutations, and conditions related to the HARS2 gene and Perrault syndrome. This database includes information on gene functions, associated diseases, and references to scientific articles and other resources.
- PubMed: PubMed is a comprehensive database of scientific articles, including those related to the HARS2 gene and Perrault syndrome. It is a valuable resource for accessing the latest research and studies on these topics.
- Genetic Testing: Genetic testing can be conducted to identify variants or changes in the HARS2 gene. This testing can help diagnose Perrault syndrome and other related genetic conditions. Consult with a healthcare professional or genetic counselor for more information on genetic testing options.
- Human Gene Mutation Database (HGMD): HGMD is a curated database that collects information on genetic mutations implicated in human inherited diseases. It provides information on gene mutations in the HARS2 gene and their associated diseases.
- Protein Synthetases: The HARS2 gene encodes for histidyl-tRNA synthetase, an enzyme involved in protein synthesis. Additional information on the role of synthetases and their importance in various cellular processes can be found in scientific articles and research papers.
- Perrault Syndrome Registry: The Perrault Syndrome Registry is a database that collects information on individuals diagnosed with Perrault syndrome. It may contain valuable resources such as patient registries, support groups, and information on clinical trials.
- Health Databases: There are several health databases and resources that provide information on Perrault syndrome and related conditions. These databases may include information on symptoms, diagnosis, treatment, and ongoing research for these conditions.
- Putative Loss-of-Function Variants: Putative loss-of-function variants in the HARS2 gene are genetic changes that are expected to partially or completely impair the function of the encoded protein. Studies and research articles may provide further information on the impact of these variants.
- Genes and Hearing Loss: The HARS2 gene is associated with hearing loss in individuals with Perrault syndrome. Further investigation into the genetics of hearing loss may provide additional insights and resources for this condition.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for the HARS2 gene. These tests can be used to diagnose and identify mutations in the HARS2 gene that are associated with various conditions.
The HARS2 gene, also known as Histidyl-tRNA Synthetase 2 (mitochondrial), is responsible for encoding an enzyme that plays a critical role in the synthesis of proteins. Mutations in this gene can lead to a range of conditions, including hearing loss and Perrault syndrome.
Tests listed in the GTR include:
-
HARS2 Gene Sequencing Test: This test analyzes the DNA sequence of the entire HARS2 gene to identify any variants or mutations that may be present. It can provide valuable information for the diagnosis of HARS2-related conditions.
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HARS2 Gene Deletion/Duplication Test: This test looks for larger genetic changes, such as deletions or duplications, within the HARS2 gene. These changes can disrupt the normal functioning of the gene and contribute to the development of certain diseases.
Additional tests may also be available, depending on the specific needs and requirements of the individual being tested.
The GTR provides comprehensive information on each listed test, including the laboratory offering the test, the methods used, and the conditions and mutations it can detect. It also includes links to relevant scientific articles, databases, and other resources for further information.
For more information on the HARS2 gene and related genetic testing, you can visit the GTR website and search for “HARS2” in the gene or condition search box. The GTR catalog includes references to scientific articles, OMIM entries, and other public health genetics resources that can provide additional information on HARS2-related diseases and putative genes.
Overall, the GTR is a valuable resource for healthcare providers, researchers, and individuals seeking information on genetic testing for the HARS2 gene and related conditions. It can help guide clinical decision-making and contribute to the understanding and management of HARS2 gene mutations and associated diseases.
Scientific Articles on PubMed
Scientific articles related to the HARS2 gene can be found on PubMed, a database of biomedical literature.
PubMed provides information about genetic testing, mutations, and the putative role of HARS2 in various syndromes and conditions. It also lists other genes and proteins that are related to HARS2 synthetases.
One notable condition associated with the HARS2 gene is Perrault syndrome, which is characterized by both hearing loss and ovarian dysfunction.
The OMIM database, a comprehensive catalog of human genes and genetic diseases, is one of the resources that can be consulted for additional information on the HARS2 gene and related conditions.
Scientific articles on PubMed can provide insights into the changes or mutations in the HARS2 gene that may contribute to hearing loss and other associated symptoms.
References and databases listing the names of the proteins encoded by the HARS2 gene are also available on PubMed.
Health professionals and researchers can rely on the scientific articles indexed on PubMed to stay up-to-date with the latest research on the HARS2 gene and its implications for human health.
- Testing of the HARS2 gene for genetic changes and mutations
- The role of HARS2 synthetases in hearing loss and other related conditions
- Information about the HARS2 gene and putative associated syndrome and diseases
- Databases and resources for additional information on the HARS2 gene and related proteins
- Scientific articles on PubMed related to the HARS2 gene and its variants
Overall, PubMed is a valuable tool for accessing scientific literature on the HARS2 gene and its significance in various disorders and diseases, particularly those related to hearing loss.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on genetic disorders and their associated genes. This catalog is a valuable resource for researchers, clinicians, and genetic counselors who are interested in understanding the genetic basis of diseases.
The OMIM catalog contains a wide range of information on genes and diseases, including gene names, protein names, and descriptions of the diseases. It also includes information on genetic mutations and variant changes that are associated with specific diseases.
The catalog lists over 15,000 genes and over 6,000 diseases, making it one of the most extensive resources for genetic information. It includes information on both well-known diseases, such as Perrault syndrome and hearing loss, as well as lesser-known conditions.
In addition to the catalog, OMIM provides other resources, such as a gene map and a registry of genetic tests. These resources can be helpful in identifying testing options for specific conditions and finding additional scientific articles and references related to a particular gene or disease.
OMIM is regularly updated with new information, including updates on gene names, mutations, and diseases. The database also includes links to related articles in PubMed, providing further information on the genetic basis of diseases.
Overall, the catalog of genes and diseases from OMIM is an invaluable tool for researchers and healthcare professionals interested in understanding the genetic basis of human health. It provides a comprehensive overview of genetic conditions and the genes that are associated with them, making it an essential resource for anyone working in the field of genetics.
Gene and Variant Databases
There are several gene and variant databases available that provide valuable information on genetic changes associated with the HARS2 gene and related conditions. These databases catalog the names of genes, proteins, and variants, as well as additional resources for testing, research, and clinical applications.
One commonly used database is the Online Mendelian Inheritance in Man (OMIM) which compiles information on human genes and genetic diseases. OMIM provides a comprehensive list of scientific articles, clinical tests, and mutations associated with the HARS2 gene and related syndromes.
Another helpful resource is the Human Gene Mutation Database (HGMD), which provides a curated collection of known disease-causing mutations in human genes. This database lists the putative pathogenic mutations in HARS2 and other genes associated with hearing loss and Perrault syndrome.
The NCBI Gene database provides detailed information on genes and their functions, including the HARS2 gene. It includes links to scientific articles, gene expression data, and protein sequences.
The Online Registry of Genetic Testing provides a comprehensive list of laboratories offering genetic tests for the HARS2 gene and related conditions. This resource can help individuals and healthcare professionals find laboratories that offer specific tests for this gene.
PubMed, a database of scientific articles, is also a valuable resource for finding additional references on the HARS2 gene and its related conditions. It can be used to search for articles on specific topics, such as the role of HARS2 mutations in hearing loss.
| Database | Description |
|---|---|
| OMIM | Provides information on genes, genetic diseases, and associated mutations |
| HGMD | Curates known disease-causing mutations in human genes |
| NCBI Gene | Provides detailed information on genes and their functions |
| Online Registry of Genetic Testing | Lists laboratories offering genetic tests for HARS2 and related conditions |
| PubMed | Database of scientific articles |
These gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in learning more about the HARS2 gene and its related syndromes. They provide access to comprehensive information, scientific articles, and testing resources to aid in understanding and diagnosing these genetic conditions.
References
- Perrault syndrome. (2021). Genetics Home Reference. Retrieved April 21, 2021, from https://ghr.nlm.nih.gov/condition/perrault-syndrome
- HARS2 gene. (2021). OMIM. Retrieved April 21, 2021, from https://omim.org/entry/600783
- HARS2. (2021). NCBI Gene. Retrieved April 21, 2021, from https://www.ncbi.nlm.nih.gov/gene/23436
- Putative HARS2 gene variant. (2021). ClinVar. Retrieved April 21, 2021, from https://www.ncbi.nlm.nih.gov/clinvar/?term=HARS2[gene]
- Perrault syndrome. (2021). Genetics and Rare Diseases Information Center. Retrieved April 21, 2021, from https://rarediseases.info.nih.gov/diseases/3917/perrault-syndrome
- HARS2 gene – Genetics Home Reference. (2021). U.S. National Library of Medicine. Retrieved April 21, 2021, from https://ghr.nlm.nih.gov/gene/HARS2
- Health Conditions (Hearing Loss). (2021). Office of Population Affairs. Retrieved April 21, 2021, from https://www.hhs.gov/opa/reproductive-health/fact-sheets/health-conditions/haring-loss/index.html
- Human HARS2 evidence on PubMed. (2021). National Center for Biotechnology Information. Retrieved April 21, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term=HARS2
- Genetic Testing Registry. (2021). National Center for Biotechnology Information. Retrieved April 21, 2021, from https://www.ncbi.nlm.nih.gov/gtr/tests/18262/
- Catalog of Genes and Diseases. (2021). National Center for Biotechnology Information. Retrieved April 21, 2021, from https://www.ncbi.nlm.nih.gov/ncbigene/