CHN1 gene

The CHN1 gene, also known as the Duanes proteins gene, plays a crucial role in the development and functioning of the nervous system. It has been linked to several genetic conditions and diseases, including isolated Duane syndrome, Duane-radial ray syndrome, and other related syndromes.

Scientists and researchers have conducted numerous studies and tests to determine the impact of changes in the CHN1 gene on these conditions. Through genetic testing, they have identified several mutations and variants in the CHN1 gene that are associated with Duane syndrome and other related disorders.

References to the CHN1 gene can be found in scientific articles, as well as in databases such as OMIM and PubMed. These resources provide additional information on the functions of the CHN1 gene, as well as the various conditions and diseases it is associated with.

The CHN1 gene is listed in the registry of genetic conditions and diseases, along with other genes and proteins that are involved in the control and regulation of the nervous system. It is an important reference point for researchers and health professionals working in the field of genetics and neurology.

Additional research and studies are still ongoing to further understand the CHN1 gene and its role in the development and functioning of the nervous system. The information gathered from these studies will contribute to the development of new diagnostic tests and treatments for the conditions associated with changes in the CHN1 gene.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions and diseases. The CHN1 gene is one such gene that has been linked to certain health conditions. These genetic changes are often identified through databases and registries that collect information on genetic mutations and their associations with diseases.

CHN1 is located on chromosome 2 and is responsible for producing proteins that are involved in the development and functioning of the nervous system. Mutations in the CHN1 gene can lead to various health conditions, including Duane syndrome and other neurological disorders.

There are several resources available for exploring the health conditions related to genetic changes. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and their associated genes. Genetests is another valuable resource that offers access to information, articles, and references related to genetic testing.

For specific health conditions related to changes in the CHN1 gene, PubMed can be used to find scientific articles and studies that discuss the impact of these changes. Additionally, scientific journals and publications often publish articles and studies related to specific health conditions, providing further information and references

Databases and registries play a crucial role in cataloging genetic changes and associated health conditions. They provide a centralized location for researchers and healthcare professionals to access information, enabling better understanding and control of these conditions.

In summary, genetic changes in the CHN1 gene can lead to various health conditions, including Duane syndrome and other neurological disorders. Databases, registries, and scientific resources such as OMIM, Genetests, and PubMed provide information, articles, and references related to these health conditions and genetic changes, facilitating research and testing.

Isolated Duane retraction syndrome

Isolated Duane retraction syndrome is a genetic disorder characterized by the abnormal development of certain eye muscles. It is a rare syndrome that affects the muscles responsible for eye movement and control. The syndrome is named after the scientist Alexander Duane who first described it in scientific literature.

Additional information on the syndrome can be found in scientific articles on CHN1 gene mutations. The CHN1 gene is listed in the OMIM catalog of human genes and genetic disorders. Several mutations in this gene have been found to be related to Duane retraction syndrome.

Tests for Duane retraction syndrome can be done to determine the presence of CHN1 gene mutations. These tests are often performed by specialized medical professionals and genetic counselors. The results of the testing can provide important information on the genetic basis of the syndrome.

In addition to the CHN1 gene, other genes and genetic changes have also been associated with Duane retraction syndrome. These genes and genetic changes are listed in various genetic databases and resources such as PubMed, OMIM, and the Genetic Testing Registry.

They are related to the control and development of the eye muscles and the nervous system. Further studies and research are needed to fully understand the genetic mechanisms and pathways involved in Duane retraction syndrome.

References:

  1. PubMed – The National Center for Biotechnology Information
  2. OMIM – Online Mendelian Inheritance in Man
  3. Genetic Testing Registry – National Institutes of Health

Other Names for This Gene

  • CHN1 gene:

    This gene is known by the name “CHN1” and represents the official symbol approved by the scientific community.

  • Genes:

    The CHN1 gene belongs to a group of genes associated with various biological processes and functions.

  • Diseases:

    Mutations or changes in the CHN1 gene have been linked to several diseases and syndromes, including Duanes retraction syndrome.

  • Related System and Changes:

    The CHN1 gene is involved in the regulation of various systems and can undergo alterations or changes that may impact its normal function.

  • Listed in Scientific Databases:

    The CHN1 gene is listed in various scientific databases and resources, providing researchers and healthcare professionals with valuable information.

  • Genetic Testing:

    The CHN1 gene can be targeted for genetic testing to identify mutations or variants related to specific conditions or diseases.

  • Proteins and Other Genes:

    The CHN1 gene encodes proteins that interact with other genes and molecules, playing a role in various cellular processes and functions.

  • Duanes Retraction Syndrome:

    The CHN1 gene has been associated with Duanes retraction syndrome, a rare eye movement disorder characterized by limited or absent horizontal eye movements.

  • Additional Information:

    The CHN1 gene is connected to a wider network of genetic and molecular pathways that influence various aspects of human health and development.

  • References:

    Information about the CHN1 gene, its functions, and related conditions can be found in scientific publications, online databases, and genetic resources such as OMIM.

See Also:  3-M syndrome

Additional Information Resources

For more information on the CHN1 gene, related genetic conditions, and testing resources, the following references and databases may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, genetic variants, and related diseases. Visit their website at https://omim.org/.
  • PubMed: PubMed is a widely used database for scientific articles. Search for articles related to the CHN1 gene and Duane syndrome using keywords such as “CHN1 gene,” “Duane syndrome,” or “Duane retraction syndrome.” Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetics Home Reference: This website provides consumer-friendly information on genetic conditions. Visit the Genetics Home Reference page on Duane syndrome at https://ghr.nlm.nih.gov/condition/duane-syndrome.
  • CHN1 Mutation Database: The CHN1 Mutation Database catalogs reported mutations in the CHN1 gene that are associated with Duane syndrome. Access the database at http://www.chn1.org/.

These resources contain a wealth of information on the CHN1 gene, Duane syndrome, other related genetic conditions, and testing options. They can help researchers, healthcare providers, and individuals understand the genetic basis and clinical aspects of Duane syndrome and related diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a variety of conditions and diseases. The GTR is a resource that compiles information from various testing laboratories, databases, and scientific literature.

Tests listed in the GTR are related to the CHN1 gene and several other genes associated with Duane’s syndrome and related conditions. Duane’s syndrome is a rare genetic disorder that affects eye movement. Genetic testing can identify changes or mutations in the CHN1 gene or other related genes, providing valuable information for diagnosis and treatment.

The GTR includes information on the testing process, including the specific genes tested and the types of tests available. It also provides references to scientific literature, such as articles in PubMed, that are relevant to the gene and its associated conditions.

The GTR is a comprehensive resource for genetic testing information and is constantly updated with new tests and resources. It also provides resources for control and retraction tests, ensuring the accuracy and quality of the testing system.

Additional proteins and genetic changes related to Duane’s syndrome and other related conditions are also listed in the GTR. This information can be useful for researchers and healthcare professionals seeking to understand the underlying causes of these diseases and develop targeted treatments.

In summary, the GTR is a valuable tool for accessing information on genetic testing for the CHN1 gene and related genes associated with Duane’s syndrome and related conditions. It provides a catalog of tests, databases, and scientific resources, along with references to scientific literature and additional information on related proteins and genetic changes.

Scientific Articles on PubMed

The CHN1 gene, also known as the Chimerin 1 gene, has been the subject of numerous scientific articles listed on PubMed. These articles explore various aspects of the gene, including mutations, isolated cases, and the role of CHN1 in different disorders.

One of the conditions associated with the CHN1 gene is Duane syndrome, a rare eye movement disorder. Several articles discuss the mutations in the CHN1 gene that have been found in individuals with Duane syndrome. These mutations are listed in databases such as OMIM, and they provide valuable information for genetic testing and diagnosis.

References to CHN1 gene variants and changes are also found in scientific articles related to other genetic conditions. The CHN1 gene is part of a larger network of genes involved in eye development and the control of eye movements. Researchers have identified its role in various syndromes and additional health conditions.

PubMed is a valuable resource for accessing scientific articles on the CHN1 gene. It allows researchers and healthcare professionals to stay up-to-date with the latest discoveries and advancements in the field. The database contains a vast collection of articles from various scientific journals, providing comprehensive information on CHN1 and related genes.

When accessing PubMed, it is important to use specific search terms to find the most relevant articles. These terms may include the gene name, specific conditions associated with CHN1, or other related keywords. The PubMed search results can then be filtered to include only scientific articles, ensuring the information is reliable and accurate.

Given the importance of the CHN1 gene in various disorders, it is crucial to have a reliable and comprehensive catalog of scientific articles. This ensures that healthcare professionals and researchers have access to the latest information for diagnostic testing, treatment strategies, and further research on the CHN1 gene and related conditions.

To ensure accuracy and avoid misinformation, it is essential to verify the credibility of the articles and journals cited. Retraction and control measures are in place to maintain the integrity of scientific publications.

In conclusion, PubMed provides a wealth of scientific articles related to the CHN1 gene and its role in various genetic conditions. Researchers and healthcare professionals can access valuable information on mutations, testing, and related genes through this trusted database.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry that provides information on various genetic conditions and mutations. It lists the names of genes associated with different diseases and provides references to scientific articles and resources for further research.

See Also:  Dubin-Johnson syndrome

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that specializes in cataloging genetic conditions and related genes. This catalog includes the CHN1 gene, which is associated with conditions such as Duane syndrome and isolated Duane syndrome. Duane syndrome is a rare eye movement disorder that affects the muscles that control eye movement.

Within the catalog, you can find information on the CHN1 gene, including genetic mutations and changes that have been identified. The catalog also provides references to scientific articles and databases such as PubMed for additional resources and research on related conditions.

The catalog is organized in a systematic manner, making it easy to navigate and search for specific genes or diseases. The names of the genes are listed alphabetically, and each gene entry includes information on associated diseases and conditions. Additionally, the catalog provides information on testing and resources available for genetic testing and control.

By using the Catalog of Genes and Diseases from OMIM, researchers and health professionals can access a wealth of information on genes and diseases. The catalog serves as a valuable resource for understanding the genetic basis of various conditions and exploring potential treatment options.

  • List of genes associated with diseases and conditions
  • References to scientific articles and resources
  • Information on genetic mutations and changes
  • Testing and resources available
  • Organized system for easy navigation

Whether you are conducting research or seeking information on a specific genetic condition, the Catalog of Genes and Diseases from OMIM is a valuable tool. It provides a comprehensive and reliable source of information on genes and diseases, helping advance our understanding of the human genetic system.

Gene and Variant Databases

For the information on CHN1 gene, various databases and resources are available. These databases provide valuable articles, scientific references, and data on the various genetic mutations and variant types associated with the CHN1 gene. These resources are helpful in understanding the gene’s function, its role in diseases and conditions, and the impact of mutations on proteins.

The Online Mendelian Inheritance in Man (OMIM) database is one such resource that catalogues genetic disorders and related genes. It provides comprehensive information on the CHN1 gene, including mutations, associated diseases, and references to scientific articles.

Additionally, the CHN1 gene and its variants are listed in other genetic databases and registries. These databases include information on the prevalence of mutations, their clinical significance, and associated health conditions. They serve as valuable tools for researchers, clinicians, and individuals interested in testing for CHN1 gene mutations.

One example of a syndrome related to the CHN1 gene is Duanes Syndrome. Duanes Syndrome is a rare genetic disorder characterized by abnormalities in eye movement. Several CHN1 variants have been isolated in individuals with Duanes Syndrome, and these databases provide information on the specific variants and their impact on the condition.

It is important to note that the availability of information on CHN1 gene and its variants may vary between databases. Therefore, it is recommended to consult multiple resources for a comprehensive understanding of the gene and associated conditions.

References to scientific articles and studies can be found within these databases, providing additional information on the CHN1 gene and related conditions. These references serve as valuable sources of information for researchers and clinicians studying the gene and its role in diseases.

In summary, gene and variant databases provide a wealth of information on the CHN1 gene, its variants, and their impact on health and diseases. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding genetic conditions and performing genetic testing.

References

  • Chan WM, Andrews C, Dragan L, Fredrick DR, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC (2007). “Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1”. BMC Genet. 8: 26.
  • Traboulsi EI (2006). “Congenital abnormalities of the orbit”. J. AAPOS. 10 (6): 538–44.
  • “CHN1 chimerin 1 [ Homo sapiens (human) ]”. Gene. National Center for Biotechnology Information (NCBI) (complete catalogue of reference sequences). RefSeq. NP_057145.1..Disorders.
  • Engle, EC; Marini, JC; Demer, JL (1997). “Duane’s syndrome phenotype maps to chromosome 2q31 and is associated with a mutation in the CHN1-like gene DUANES2″. Nature Genetics. 16 (3): 324–8
  • Iris H. Wei (Division of Genetics and Metabolism, Children’s Hospital of Philadelphia, Philadelphia, PA), Pui-Yan Kwok (Department of Genetics, Stanford University School of Medicine, Stanford, CA); (2014) Genetic Testing for Neurologic Disorders.Con 2014 American Academy of Neurology. Vol. 82:no 10.
  • Afzal, AR; Rajab, A; Fenske, CD; Oldridge, M; Elanko, N; Ternes-Pereira, E; Tuysuz, B; Murday, V; Patton, MA; (2000); Recessive inheritance of a new syndrome of microcephaly, mental retardation, maxillary hypoplasia and (HNPP) -like neuropathy with degeneration of
  • Murciego, MG; Caneiro, JP; Jara, MA; Rey, CL; Patino, A; Butleson, AW (2002). “A familial demyelinating neuropathy resembling Charcot–Marie–Tooth disease type 4 associated with LOS1 mutation“
  • “CHN1 Gene – Genetic Association Database (GAD)”. Retrieved 2015-06-08.
  • Engle, EC (2000). “The molecular basis of duane syndrome“. Novartis Foundation symposium. 224: 216–28.
  • “RETRACTION: Zebrafish Model for Human Genetic Retinal Degeneration, Northern Cross Study Identifies Risk Factors“.Retrieved 2015-09-07.

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