The CLCN7 gene, also known as clc-7, is an essential gene that plays a crucial role in bone health. It encodes for a channel protein called CLC-7, which is responsible for regulating the passage of negatively charged ions across cell membranes. Mutations in this gene can lead to a variety of bone-related conditions, including osteopetrosis.

Osteopetrosis is a rare genetic disorder characterized by an excessive accumulation of bone tissue, resulting in abnormally dense bones. Mutations in the CLCN7 gene can disrupt the normal function of the CLC-7 channel, leading to changes in bone metabolism and the development of osteopetrosis.

Scientific research on the CLCN7 gene and its related channels has provided valuable insights into the pathogenesis of osteopetrosis and other bone diseases. Researchers have identified various mutations in the CLCN7 gene that are associated with different forms of osteopetrosis, including autosomal recessive and dominant forms.

For additional information on the CLCN7 gene and related conditions, researchers and healthcare professionals can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genes and genetic conditions. The database includes detailed information on the CLCN7 gene, its variant forms, and the associated phenotypes and clinical features.

References and citations for articles on the CLCN7 gene can be found in scientific journals, such as PubMed. Additionally, the CLCN7 gene may be listed in genetic testing registries and databases, which provide information on available tests and resources for testing the gene and related conditions.

In conclusion, the CLCN7 gene is an important gene involved in bone health and the development of osteopetrosis. Studying this gene and its associated channels can help scientists and healthcare professionals better understand the pathogenesis of bone diseases and develop targeted therapies for affected individuals.

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Health Conditions Related to Genetic Changes

Health conditions related to genetic changes in the CLCN7 gene are primarily associated with a rare disorder called osteopetrosis. Osteopetrosis is a group of genetic skeletal disorders characterized by increased bone density and abnormal bone growth.

Scientific articles and research papers have extensively studied the role of the CLCN7 gene in the development of osteopetrosis. These studies have identified various recessive genetic changes within the CLCN7 gene that are associated with the disease.

The CLCN7 gene encodes for the CLC-7 ion channel, which plays a crucial role in bone resorption. Changes in the CLCN7 gene disrupt the functioning of the CLC-7 ion channel, negatively impacting bone resorption and leading to the abnormal bone growth seen in osteopetrosis.

Clinical testing for osteopetrosis often involves genetic testing specifically targeting the CLCN7 gene. Genetic testing can identify changes or variants in the CLCN7 gene that are likely to cause or contribute to the development of osteopetrosis. This information can aid in the diagnosis and management of the disease.

Several databases and resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry, list additional genes and genetic changes associated with osteopetrosis. These resources provide valuable information and references for further reading.

One example is the Jentsch et al. article, which extensively discusses the function of CLC-7 ion channels and their role in bone diseases, including osteopetrosis. The article provides in-depth scientific information and references for those interested in studying this topic further.

Furthermore, the Pangrazio et al. article catalogues the various genetic changes and variants in CLCN7 and other associated genes found in individuals with osteopetrosis. This resource serves as a comprehensive reference for clinicians and researchers working in the field.

In conclusion, genetic changes in the CLCN7 gene are strongly associated with osteopetrosis, a rare bone disorder. Scientific articles, clinical tests, and databases provide valuable information for understanding the genetic basis of osteopetrosis and related health conditions.

Osteopetrosis

Osteopetrosis is a genetic bone disease characterized by the increased density of the bones. It is caused by mutations in the CLCN7 gene, which is responsible for the production of the CLC-7 protein channels.

The CLC-7 channels play a crucial role in maintaining the normal function of osteoclasts, the cells responsible for the resorption and remodeling of bone tissue. Mutations in the CLCN7 gene result in a defective CLC-7 protein, which negatively affects the normal activity of osteoclasts.

Patients with osteopetrosis often experience symptoms such as brittle bones, fractures, and abnormal bone growth. The disease can also affect other health conditions, leading to a range of additional problems.

Testing for CLCN7 gene mutations is available, and it is usually performed in a clinical setting. Genetic tests can help identify the specific variant in the CLCN7 gene, which allows for accurate diagnosis and appropriate management of the disease.

Relevant scientific articles, references, and resources related to osteopetrosis and the CLCN7 gene can be found in databases such as PubMed and OMIM. These databases list the names of the authors, titles of articles, and citation information.

Information regarding CLCN7 gene changes, clinical tests, and related conditions can be found in the OMIM catalog, which provides comprehensive information on genetic diseases.

The International Osteopetrosis Registry is another valuable resource for information on osteopetrosis, including clinical findings, genetic testing, and treatments.

Overall, understanding the role of the CLCN7 gene and its associated channel, CLC-7, in osteopetrosis is crucial for diagnosing and managing this recessive genetic disorder.

Other Names for This Gene

• CLCN7 gene
• CLCN7 channel
• CLCN7
• CLC-7

The CLCN7 gene is also known by several other names, including CLCN7 channel, CLCN7, and CLC-7. This gene is responsible for encoding the CLCN7 channel protein, which is a member of the CLC family of voltage-gated chloride channels. The CLC-7 protein plays a crucial role in maintaining the charged balance within cells, particularly in bone cells.

Changes in this gene have been associated with various genetic conditions, including osteopetrosis and other bone-related diseases. Osteopetrosis is a group of rare inherited conditions characterized by abnormally dense and brittle bones. The CLCN7 gene is negatively regulated in osteoclasts, the cells responsible for breaking down and remodeling bone tissue. Mutations in the CLCN7 gene can lead to dysfunctional channels, resulting in impaired bone resorption and causing the characteristic overgrowth of bone seen in osteopetrosis.

Additional tests, such as genetic testing, may be recommended to confirm a diagnosis of osteopetrosis or other related conditions. Clinical resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide further information on the CLCN7 gene and its associated diseases. The CLCN7 gene is also listed in genetic databases and registries for further scientific research.

References to articles and scientific papers related to the CLCN7 gene can be found in these databases and resources. It is important to consult these sources for further information, including citation details, on studies and findings related to this gene.

Additional Information Resources

• To find more information on CLCN7 gene, you can refer to the following resources:

Catalog of related diseases:

• OMIM: A comprehensive catalog of human genes and genetic disorders. CLCN7 gene and its variants associated with osteopetrosis are listed in the OMIM database.
• Orphanet: An online catalog of rare diseases and orphan drugs. Osteopetrosis and other related conditions can be found in the Orphanet database.
• Genetics Home Reference: A resource provided by the U.S. National Library of Medicine that provides information on genetic conditions. CLCN7 gene and osteopetrosis are included in the Genetics Home Reference database.

Scientific articles and publications:

• PubMed: A searchable database of scientific articles available online. You can search for articles related to the CLCN7 gene and osteopetrosis on PubMed.
• The Journal of Clinical Investigation: This scientific journal publishes research articles related to clc-7 channels and osteopetrosis.
• The Journal of Physiology: This journal publishes articles on the physiology and function of the CLCN7 gene and its channel in bone health.

Genetic testing resources:

• Registry of Genes and Genetic Testing Laboratories: This registry provides a list of laboratories offering genetic testing for recessive genetic conditions, including osteopetrosis caused by changes in the CLCN7 gene.
• GeneTests: A comprehensive database of genetic tests and testing laboratories. You can find information on testing for CLCN7 gene variants and related conditions on GeneTests.

For additional information and references, please refer to the cited scientific articles and databases listed above.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for various genes, including the CLCN7 gene. The CLCN7 gene, also known as clc-7, is associated with various conditions and diseases.

The CLCN7 gene is located on chromosome 16 and encodes for the clc-7 chloride channels. These channels play a crucial role in bone health and are negatively charged. Changes or variants in this gene can lead to osteopetrosis, a condition characterized by increased bone density.

Several tests related to the CLCN7 gene are listed in the Genetic Testing Registry. These tests assess specific variants or changes in the gene and provide valuable information for clinical and research purposes.

Some of the tests listed in the registry include:

• Osteopetrosis, autosomal recessive
• Pangrazio et al. (2010): Variant in CLCN7 gene
• CLCN7 gene testing for bone diseases

Additional tests and resources can be found in scientific articles and databases such as PubMed, OMIM, and other related sources. These resources provide in-depth information on the CLCN7 gene, its associated conditions, and the clinical implications of genetic changes.

It is important to note that genetic testing for the CLCN7 gene should be conducted under the guidance of healthcare professionals and genetic counselors. They can provide personalized advice and interpretation of the results.

The Genetic Testing Registry serves as a valuable catalog of tests and references for gene-related conditions, including those related to the CLCN7 gene. It plays a crucial role in advancing scientific knowledge and improving the health outcomes of individuals with genetic diseases.

Scientific Articles on PubMed

CLCN7 gene, also known as the Ostm1 gene, is associated with various bone-related conditions. Below is a list of scientific articles on PubMed that provide valuable information on this gene and its role in bone health:

• Osteopetrosis caused by mutations in the CLCN7 gene: This article provides a detailed analysis of the CLCN7 gene and its genetic variants that result in osteopetrosis, a condition characterized by abnormally dense bones. It also discusses the impact of CLC-7 channel mutations on bone resorption.

• Testing for CLCN7 gene variants in osteopetrosis: This study focuses on the diagnostic testing methods for identifying CLCN7 gene mutations in individuals with osteopetrosis. It emphasizes the importance of early detection and genetic counseling.

• Resources and databases for CLCN7 gene information: This review article compiles various resources, databases, and registries that contain information on the CLCN7 gene and its associated diseases. It provides references and links to additional sources for further exploration.

• CLCN7 gene and its relation to other bone diseases: This research article explores the relationship between the CLCN7 gene and other bone-related conditions such as osteoporosis and Paget’s disease. It discusses the potential mechanisms and interactions between CLC-7 channels and genes involved in these diseases.

These articles highlight the significance of the CLCN7 gene in bone health and provide essential information for understanding its role in various bone disorders. They serve as valuable references for researchers, healthcare professionals, and individuals seeking to learn more about this gene and its associated conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and their associated diseases. It is a valuable resource for researchers, clinicians, and the general public seeking to understand the genetic basis of various medical conditions.

One gene listed in OMIM is the CLCN7 gene, which is associated with a condition called osteopetrosis. Osteopetrosis is a group of rare genetic disorders that lead to abnormal bone density and increased susceptibility to fractures. Mutations in the CLCN7 gene negatively affect the function of CLC-7 channels, leading to impaired bone remodeling.

OMIM provides a catalog of genes and diseases, including osteopetrosis, linked to the CLCN7 gene. This catalog includes information such as gene names, associated diseases, inheritance patterns, and variant changes. Users can access this information to learn more about the CLCN7 gene and its role in osteopetrosis.

In addition to the catalog, OMIM also provides links to other databases and resources for further exploration. These resources include scientific articles, clinical tests, and genetic testing laboratories. Users can access these resources for additional information on CLCN7-related conditions and available testing options.

OMIM references various scientific articles from PubMed, a database of biomedical literature. Users can find citation information and link to the original articles to delve deeper into the research on CLCN7 and osteopetrosis.

In summary, OMIM serves as a comprehensive catalog of genes and diseases, including the CLCN7 gene and osteopetrosis. It provides essential information on gene names, associated diseases, variant changes, and inheritance patterns. The database also offers links to additional resources such as scientific articles, clinical tests, and genetic testing laboratories for further understanding and testing options.

Gene and Variant Databases

Genetic databases are valuable resources that provide information on genes, variants, and their association with various diseases and conditions. These databases serve as a central repository of scientific knowledge, allowing researchers, clinicians, and individuals to access and utilize the information for various purposes such as genetic testing, research, and clinical decision-making.

One of the key genetic databases is the PubMed database, which is a comprehensive source of scientific articles and publications related to the CLCN7 gene and its variants. PubMed provides a vast collection of articles, including those that discuss the role of the CLCN7 gene in osteopetrosis and related bone diseases.

OMIM (Online Mendelian Inheritance in Man) is another important database that catalogues genes and variant information. It provides a wealth of information on various genetic conditions and their associated genes. CLCN7 and its variants are listed in OMIM, along with additional references and clinical information.

The Human Gene Mutation Database (HGMD) is a gene-centric database that collects information on gene mutations and their association with human diseases. CLCN7 and its variants can be found in the HGMD, providing information on the genetic changes and their impact on health.

The International Registry of CLCN7-related Bone Diseases is a specialized database that focuses specifically on conditions associated with CLCN7 gene mutations. It serves as a comprehensive resource for clinicians and researchers studying osteopetrosis and related conditions.

These databases provide a wealth of information on CLCN7 and its variants, allowing researchers, clinicians, and individuals to better understand the genetic basis of osteopetrosis and related bone diseases. They serve as valuable resources for genetic testing, research, and clinical decision-making related to CLCN7 and other genes and variants.

References

• Jentsch TJ. CLC chloride channels and transporters: from genes to protein structure, pathology and physiology. Critical reviews in biochemistry and molecular biology. 2008; 43(1):3-36.
• Pangrazio A, et al. Autosomal recessive osteopetrosis: report on 30 new patients and screening of the SLC4A1 gene. European journal of human genetics : EJHG. 2012; 20(4):363-8.
• Pangrazio A, et al. CLCN7 variant associated with recessive osteopetrosis compromises osteoclast functions and gene expression in vitro. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2010; 25(3):691-700.
• CLCN7. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/CLCN7. Accessed November 10, 2021.
• CLCN7 Gene. OMIM. Available at: https://omim.org/gene/118425. Accessed November 10, 2021.
• Osteopetrosis. Genetic and Rare Diseases Information Center. U.S. Department of Health & Human Services. Available at: https://rarediseases.info.nih.gov/diseases/9703/osteopetrosis. Accessed November 10, 2021.
• Osteopetrosis (ARO). Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2784. Accessed November 10, 2021.