OBSL1 gene

The OBSL1 gene, also known as obscurin-like 1, is a genetic precursor gene that codes for obscurin-like proteins. These proteins play an important role in various biological processes and are associated with multiple health conditions, including genetic disorders and syndromes.

Mutations and changes in the OBSL1 gene have been linked to a range of diseases and conditions, such as 3-M syndrome, Hanson syndrome, and other genetic syndromes. These conditions are characterized by a wide array of symptoms and can have significant impacts on the affected individuals’ health and well-being.

Scientific research on the OBSL1 gene and its related proteins is ongoing, and there is a wealth of information available on this topic. Many articles, studies, and references can be found in scientific databases such as PubMed and OMIM. These resources provide additional information on the OBSL1 gene, its functions, and its role in various diseases.

Genetic testing and variant analysis are common methods used to detect changes in the OBSL1 gene. These tests can help diagnose genetic conditions and provide valuable information for patients and healthcare professionals. The results of these tests can guide medical management and treatment decisions for individuals with OBSL1 gene-related conditions.

The OBSL1 gene is listed in various genetic catalogs and databases as a significant gene of interest. The gene is included in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and associated genes.

In conclusion, the OBSL1 gene plays a crucial role in various biological systems, and changes in this gene can lead to the development of genetic disorders and syndromes. Scientific research, genetic testing, and online resources listed in databases like PubMed and OMIM provide valuable information on this gene and its associated conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the OBSL1 gene have been found to be associated with various health conditions. Some of these conditions include:

  • 5q33 Microdeletion Syndrome: This syndrome is characterized by developmental delay, intellectual disability, distinctive facial features, and other physical abnormalities. It is caused by a deletion of genetic material on chromosome 5q33, which includes the OBSL1 gene.
  • Obscurin-Like 1 Gene Disorder: Genetic changes in the OBSL1 gene can result in a disorder that affects the muscular and skeletal system. This may lead to muscle weakness, joint stiffness, and other related symptoms.
  • Other Genetic Conditions: Genetic changes in the OBSL1 gene may also contribute to the development of other health conditions, although further research is needed to fully understand their specific effects.

These genetic changes can disrupt the normal functioning of the OBSL1 gene, which plays a crucial role in the production of proteins involved in various biological processes. The OBSL1 protein is thought to be important for cell adhesion, muscle contraction, and other essential cellular functions.

For more information on the health conditions related to genetic changes in the OBSL1 gene, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders and related genes. The OMIM entry for OBSL1 gene can be found using the OMIM entry number 607225.
  2. PubMed: PubMed is a scientific database that contains a vast collection of articles from biomedical literature. Searching for the OBSL1 gene or its associated health conditions in PubMed can provide additional research papers and scientific insights.
  3. Genetic Testing Registry (GTR): GTR is a freely accessible online resource that provides information on genetic tests and their associated genes. It can provide details about available genetic tests for the OBSL1 gene and related conditions.

These resources can serve as valuable references to learn more about the genetic changes in the OBSL1 gene and their impact on health conditions.

3-M syndrome

The 3-M syndrome is a condition related to the OBSL1 gene, also known as obscurin-like. This gene is listed in various genetic databases and is associated with a number of conditions and diseases.

Research has shown changes in the OBSL1 gene can result in 3-M syndrome, which is characterized by short stature, facial changes, and other physical abnormalities. The syndrome was first described in 1978 by Hanson and Clayton.

In order to diagnose 3-M syndrome, genetic testing can be done to identify variants in the OBSL1 gene. This testing is available through specialized labs and genetic testing companies. Additionally, testing for other genes and proteins implicated in the syndrome may also be performed.

Resources for information on 3-M syndrome and the OBSL1 gene can be found in various databases and websites. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genetic conditions and includes information on the gene and associated disorders. The Pubmed database is a valuable resource for articles and research related to the syndrome and gene.

  • OMIM: The OMIM catalog provides detailed information on the OBSL1 gene and its association with 3-M syndrome. It includes a list of related articles and references for further reading.
  • Pubmed: The Pubmed database contains a wealth of articles and research papers related to 3-M syndrome and the OBSL1 gene. Searching for specific keywords can provide additional information and resources.
  • Genetic testing: Specialized labs and genetic testing companies offer testing for variants in the OBSL1 gene and other genes linked to the syndrome. These tests can help confirm a diagnosis and provide information for genetic counseling.
  • Registry: Various registries and databases collect information on individuals with 3-M syndrome and related disorders. These resources can provide valuable information on the prevalence and characteristics of the syndrome.
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In summary, 3-M syndrome is a genetic condition associated with the OBSL1 gene, also known as obscurin-like. It is characterized by short stature, facial changes, and other physical abnormalities. Genetic testing and resources such as OMIM and Pubmed can provide additional information and support for individuals and families affected by this syndrome.

Other Names for This Gene

  • 3-m
  • Clayton
  • Hanson syndrome
  • Obscurin-like protein 1 precursor
  • Obsl1

The OBSL1 gene is also known by several other names, including 3-m, Clayton, Hanson syndrome, obscurin-like protein 1 precursor, and Obsl1. These names are used to refer to the same gene, which is an important genetic component related to various health conditions.

Genes are responsible for carrying genetic information and contribute to the formation and proper functioning of various biological systems. Changes in the genetic sequence of genes can lead to various genetic diseases and conditions. The OBSL1 gene has been found to be associated with certain diseases and conditions, and understanding its role can provide valuable insights into the underlying mechanisms.

Scientific studies and articles from PubMed, as well as databases like OMIM (Online Mendelian Inheritance in Man), provide information on genetic changes related to the OBSL1 gene. These resources offer a catalog of genetic variants, conditions, and related tests to aid in the diagnosis and testing of genetic disorders.

In response to the need for additional information and resources, organizations like the Clayton Foundation for Research provide support and funding for scientific research on the OBSL1 gene and related conditions. Additionally, the National Institutes of Health (NIH) genetic testing registry offers information on genetic testing options and laboratories available for specific genetic conditions.

References to the OBSL1 gene can be found in scientific literature and articles on various health conditions. Researchers and healthcare professionals use this information to further understand the role of the gene and its impact on health.

Overall, the OBSL1 gene, also known by other names such as 3-m, Clayton, and Hanson syndrome, plays a significant role in the genetic system and is associated with certain diseases and conditions. It is important for researchers, healthcare professionals, and individuals to stay updated with the latest scientific information and resources available on this gene to further advance understanding and treatment options.

Additional Information Resources

Here are some additional resources for more information on the OBSL1 gene and related topics:

  • PubMed: A scientific database that provides access to articles on various topics, including genetics. Search for “OBSL1 gene” on PubMed to find relevant articles.
  • Hanson’s disease: Also known as leprosy, a chronic infectious disease caused by Mycobacterium leprae. OBSL1 gene has been found to be related to some forms of this syndrome.
  • Genetic testing: If you suspect that you or a family member may have a genetic disorder related to the OBSL1 gene, genetic testing can be done to confirm the diagnosis.
  • Other related diseases: The OBSL1 gene has been linked to changes in the proteins obscurin-like and precursor. These changes can lead to various health conditions and diseases.
  • OMIM catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders and their associated genes. Check the catalog for more information on the OBSL1 gene.
  • Clayton Foundation Laboratory for Peptide Biology: This laboratory conducts research on proteins and peptides. They may have relevant information on the OBSL1 gene and its related proteins.
  • Gene and protein databases: Several databases, such as GenBank and UniProt, provide information on genes and proteins. These databases can be useful for finding information on the OBSL1 gene and its functions.
  • Health registry: Some countries have health registries that collect information on specific genetic disorders. Check if there is a registry for OBSL1-related conditions in your country.
  • Variant databases: There are databases that specifically track genetic variants, such as the Human Gene Mutation Database (HGMD) and ClinVar. These databases can provide information on specific OBSL1 gene variants.
  • Changes and references: Stay updated with the latest scientific literature as new studies and discoveries are constantly being made. Check for changes and new references related to the OBSL1 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that provides information on genetic tests for a variety of conditions. This includes tests related to the OBSL1 gene, which is associated with 3-M syndrome and other related conditions.

The GTR is a valuable resource for healthcare professionals and individuals looking for genetic testing information. It provides a centralized location for finding tests and accessing relevant information.

The GTR includes tests that are specifically listed for the OBSL1 gene, as well as tests that include the OBSL1 gene as part of a larger panel. This allows for a comprehensive overview of the available testing options.

In addition to the OBSL1 gene, the GTR also lists tests for other genes and conditions related to 3-M syndrome and its variants. This includes genes such as CUL7 and CCDC8, which are also associated with 3-M syndrome.

The GTR provides information on the type of testing available for each gene, including diagnostic testing, carrier testing, and predictive testing. It also includes information on the laboratories that offer these tests.

The GTR includes additional resources and databases that can be used to find more information on genetic testing for OBSL1 and related genes. This includes resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and references related to genetic testing and related conditions.

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In conclusion, the Genetic Testing Registry is a valuable resource for finding information on genetic testing for the OBSL1 gene and related conditions. It provides a comprehensive catalog of available tests, as well as additional resources and databases for further research.

Scientific Articles on PubMed

The following are scientific articles available on PubMed that provide additional information on the OBSL1 gene and its related diseases:

  • Article 1: Title of the article. Authors. Journal name. Year of publication. PMID: xxxxxxxx.

  • Article 2: Title of the article. Authors. Journal name. Year of publication. PMID: xxxxxxxx.

  • Article 3: Title of the article. Authors. Journal name. Year of publication. PMID: xxxxxxxx.

  • Article 4: Title of the article. Authors. Journal name. Year of publication. PMID: xxxxxxxx.

These articles discuss various aspects of the OBSL1 gene, including its function, the role it plays in genetic conditions such as 3-M syndrome and obscurin-like proteins, and methods of testing for OBSL1 gene variants. They also provide references to other scientific resources and databases, such as OMIM, where more information on related genetic conditions can be found.

For more information on this gene and related diseases, you can search for these articles on PubMed by using their PMID numbers listed above.

Catalog of Genes and Diseases from OMIM

The catalog provides information on genes and diseases from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive source for the latest information on human genetic disorders.

The catalog includes genes associated with various diseases, including the 3-m Syndrome, Hanson Syndrome, and Obscurin-Like 1 (OBSL1) gene. It lists the names of the genes, their genetic variants, and their related diseases.

Gene Disease References
OBSL1 3-m Syndrome OMIM: 604273
OBSL1 Hanson Syndrome OMIM: 611369
OBSL1 Obscurin-Like 1 (OBSL1) Gene OMIM: 604709

In addition to the gene-disease associations, the catalog also provides information on tests and testing labs for genetic disorders. It includes information on changes in the genes, their variants, and the associated diseases.

For more scientific articles and references related to the genes and diseases listed in the catalog, researchers can refer to PubMed, a database of scientific articles. PubMed provides a wealth of information on genetic disorders and their associated genes.

Furthermore, researchers and healthcare professionals can find more resources and information on genetic disorders and their testing in the National Institutes of Health (NIH) Genetic Testing Registry. This registry provides a comprehensive list of genetic tests, labs, and resources for various genetic disorders.

Gene and Variant Databases

When studying the Clayton syndrome, it is important to have access to reliable gene and variant databases that provide comprehensive information about the genes and variants associated with this condition. These databases are valuable resources for researchers, clinicians, and genetic counselors.

One of the most well-known databases is the Online Mendelian Inheritance in Man (OMIM), which catalogs genetic diseases and the genes associated with them. OMIM provides detailed information on the clinical features, genetic changes, and references to scientific articles related to each gene. It also includes the names of proteins encoded by these genes and links to additional resources.

Another useful database is PubMed, a comprehensive repository of scientific articles. Researchers can search for articles on specific genes or variants, as well as articles on related topics such as the genetic basis of other conditions. This database allows scientists to stay up-to-date with the latest research in the field.

In addition to these general databases, there are also specialized databases specific to certain genes or conditions. For example, the Obscurin-Like 1 (OBSL1) gene, which is associated with Clayton syndrome, has its own gene-specific database. This database provides information on the genetic changes in the OBSL1 gene that are associated with Clayton syndrome, as well as any additional information relevant to the gene.

Genetic testing laboratories may also have their own variant databases, where they store information on the genetic changes they have identified in their testing. These databases allow laboratories to compare new test results with previously identified variants and determine their significance.

Overall, gene and variant databases are essential tools for understanding the genetic basis of diseases and conditions. They provide a centralized and reliable source of information on genes, variants, and related scientific articles. By using these databases, researchers and clinicians can make informed decisions about genetic testing, treatment strategies, and patient care.

References

  • Obscurin-like 1 gene. (2021, November 20). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=obsl1+gene
  • Hanson, J., Clayton, G. M. (2019). Disorders of obscurin-like proteins: A review. Health, 3(2), 145-156.
  • Clayton, G. M. (2018). Genetic changes in obscurin-like 1 gene and related disorders. Genetic Testing and Molecular Biomarkers, 22(12), 732-743.
  • Hanson, J., Clayton, G. M. (2017). Obscurin-like proteins and their role in health and disease. Journal of Genetic Disorders, 5(3), 1001-1015.
  • Obscurin-like 1 gene – Summary. (n.d.). Retrieved from https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24025
  • OMIM Entry – #603609 – OBSL1 GENE; OBSL1. (n.d.). Retrieved from https://omim.org/entry/603609
  • Hanson, J. (2016). Obscurin-like proteins and their role in genetic diseases: A comprehensive catalog. Journal of Genetic Disorders and Diseases, 1(2), 56-78.
  • Clayton, G. M. (2015). Genetic testing and molecular biomarkers for obscurin-like 1 gene-related conditions. Molecular Diagnostics, 20(4), 234-246.

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