SOST gene

Published Categorized as Genetics
SOST gene

The SOST gene, also known as sclerostin-related gene, is responsible for producing a protein called sclerostin. Mutations in the SOST gene can lead to a variety of bone disorders, including sclerosteosis and van Buchem disease.

Sclerostin is an important regulator of bone formation and density. It functions by inhibiting the action of osteoblasts, the cells responsible for building new bone. In people with mutations in the SOST gene, there is a shortage or absence of functional sclerostin, leading to excessive bone growth and density.

Scientists have identified several mutations in the SOST gene that are associated with different bone disorders. These mutations can cause changes in the structure or function of the sclerostin protein, leading to abnormal bone formation and growth.

For more information on the SOST gene and related conditions, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic diseases, including those related to the SOST gene. Other databases and registry resources provide additional information on testing, genetic variants, and scientific articles related to SOST gene conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the SOST gene region can lead to various health conditions and diseases. One of the main conditions associated with these genetic changes is SOST-related sclerosing bone dysplasia. This condition is characterized by abnormal bone growth and density.

Diagnostic tests and genetic testing can be used to identify variants in the SOST gene and determine if someone has SOST-related sclerosing bone dysplasia. These tests can provide valuable information for healthcare professionals to diagnose and manage the condition.

There are several resources available for additional information on SOST-related health conditions and genetic changes. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are scientific databases that provide articles and references related to SOST gene changes and associated health conditions.

The ClinicalTrials.gov website is another resource that lists ongoing clinical trials related to SOST-related conditions. This can provide information on new treatments and therapies being studied for these conditions.

The Genetic Testing Registry is a database that provides information on genetic tests available for SOST-related conditions. This can help individuals and healthcare professionals find testing options and laboratories that offer these tests.

In addition to these resources, there are other scientific articles and research papers available that discuss the functional and genetic changes in the SOST gene and their impact on bone health and related conditions.

It is important for individuals with SOST-related conditions to work closely with healthcare professionals and genetic counselors to understand the implications of these genetic changes and to explore appropriate treatment options.

SOST-related sclerosing bone dysplasia

SOST-related sclerosing bone dysplasia is a genetic disorder characterized by functional changes in the SOST gene, leading to sclerosing bone dysplasia. This condition affects the bones, causing abnormal density and structure.

The SOST gene is listed in various genetic databases, including OMIM and PubMed. It is associated with other conditions and diseases related to bone abnormalities.

Testing for genetic variants in the SOST gene can be done through scientific testing and is available in health registries and genetic testing resources. Information on this gene and related conditions can be found in articles and references listed in these databases.

Patients with SOST-related sclerosing bone dysplasia may experience a shortage of SOST-related genes, which leads to the development of abnormal bone density and structure.

Further research on this gene and its role in bone development is necessary to fully understand its functional significance and its implications in bone diseases.

See also  KCNB1 encephalopathy

References:

This information on SOST-related sclerosing bone dysplasia and tests for SOST-related genes is based on scientific research and resources available in the field of genetics and bone diseases.

Other Names for This Gene

The SOST gene is also known by other names, which include:

  • Sclerostin
  • DICKKOPF-related protein 1 (DKKRP-1)
  • Von Braun-Brushart syndrome 2 (BV-2)
  • SW-induced clone related to antagonist of FGF and BMP signaling (SFRP-4)
  • CCAAT enhancer binding protein epsilon (C/EBP-epsilon)
  • Banded bone disease 2 (BBD2)

These additional names reflect the different functional and related roles of this gene and can be found on various resources and databases.

In scientific articles and genetic testing, the SOST gene may be listed under these alternative names for efficient identification and testing.

Information on the region, changes, and catalog of variations in the SOST gene can be found in resources such as OMIM, PubMed, and other health databases.

The SOST gene is associated with various conditions and diseases related to bone health, such as sclerosing bone dysplasia and related disorders.

Specialized tests and genetic variant testing for SOST-related conditions may be available, and information on these tests can be found through resources, such as the SOST-related testing registry.

Additional Information Resources

  • Scientific Names: SOST gene, sclerosteosis, van Buchem disease, CDD, CDDY, CDD, sclerosteosis 1

  • Related Genes: SOST-related genes, genes associated with bone dysplasia

  • Genetic Tests: Genetic tests for SOST gene shortage are listed in the Registry of

    SOST-related Genetic Tests

  • Articles: Articles related to this gene can be found in PubMed

  • Other Resources:

    • OMIM: Provides information on genetic conditions and genes, including SOST

    • Databases: Access databases with information on changes in the SOST gene and other related

      genes

    • Resources on Bone Health: Find information on bone health, diseases, and testing

    • References: Find references and additional resources related to the SOST gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a wide range of health conditions. Below is a list of tests related to the SOST gene and its related genes.

Gene Conditions Test OMIM Other Resources
SOST Sclerosing bone dysplasia Variant analysis 614592
Gene sequencing 612265
Other genes related to bone changes
Other genes related to SOST-related conditions

Please note that the above list is not exhaustive and there may be additional tests available. For more information on specific tests and related genes, you can refer to the Genetic Testing Registry and other scientific databases.

Scientific Articles on PubMed

SOST gene:

  • For genetic testing of SOST gene, due to shortage of resources, it is recommended to refer to PubMed articles.

Articles on PubMed:

  • Several scientific articles are available on PubMed related to SOST gene.
  • These articles provide information on genetic tests, sclerosing bone dysplasia, and other genes in the SOST-related region.
  • Scientific names of genes and proteins, as well as variant changes and functional information, can be found in these articles.
  • References from OMIM and other databases are listed in these articles, providing additional information on related diseases and conditions.

Health Registry:

  • This information is useful in maintaining a health registry for patients with conditions related to the SOST gene.

Available Tests:

  • Genetic tests are available for the SOST gene and other genes associated with bone dysplasia.
  • These tests can help diagnose and identify variant changes in these genes.
  • However, due to the shortage of resources, it is important to prioritize testing based on clinical indications.
Genes Diseases/Conditions
SOST Sclerosing bone dysplasia
Other genes in the SOST-related region Various bone dysplasia conditions
See also  RPS6KA3 gene

References:

  1. PubMed articles
  2. OMIM database
  3. Other relevant scientific databases

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is an extensive collection of genetic information on various health conditions and the genes associated with them. It provides a comprehensive resource for scientists, healthcare professionals, and individuals interested in understanding genetic diseases.

OMIM, short for Online Mendelian Inheritance in Man, is a database that catalogues genes and genetic disorders. It provides detailed information on the genetic basis of various diseases, including the SOST gene.

SOST Gene and Sclerosing Bone Dysplasia

The SOST gene, also known as sclerostin-related gene, is associated with a condition called sclerosing bone dysplasia. Changes in this gene can lead to a shortage of sclerostin, a protein that plays a crucial role in bone health.

Scientific studies have identified various genetic changes in the SOST gene that are linked to sclerosing bone dysplasia. These changes can affect the functional properties of the gene and ultimately impact bone development and maintenance.

OMIM and Additional Resources

OMIM serves as a valuable resource for researchers and healthcare professionals, providing a comprehensive catalog of genes and diseases. It includes references to scientific studies, databases, and other resources that offer further information on various genetic conditions.

Healthcare professionals can use OMIM to access information on genetic testing for SOST-related diseases and to stay up-to-date with the latest scientific findings regarding the SOST gene and its associated conditions.

The catalog of genes and diseases from OMIM is an indispensable tool in understanding genetic disorders and can aid in the diagnosis, treatment, and management of these conditions.

Gene and Variant Databases

There are several gene and variant databases that provide information related to the SOST gene and its associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in studying or diagnosing sclerosing bone dysplasia and other related conditions.

One of the most widely used databases is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SOST gene and its associated diseases, including sclerosteosis and van Buchem disease. OMIM lists the genetic changes and functional effects of variations in the SOST gene, as well as additional references to scientific articles and other resources.

Another important resource is the Human Gene Mutation Database (HGMD), which is a comprehensive collection of germline mutations in human genes. HGMD provides information on known disease-causing mutations in the SOST gene and their associated conditions. This database is particularly useful for genetic testing laboratories and clinicians who are interested in identifying disease-causing variants in their patients.

In addition to these general gene and variant databases, there are specific databases that focus on bone-related conditions and genes. The Skeletal Dysplasia Molecular Testing and Registry database, for example, provides information on genetic testing for skeletal dysplasia disorders, including those related to the SOST gene. This database includes information on the region of the gene that is tested, as well as references to scientific articles and other resources.

Other resources include the PubMed database, which provides access to a wide range of scientific articles on the SOST gene and its associated diseases. This database is particularly useful for researchers interested in exploring the latest findings and developments in the field.

Overall, gene and variant databases play a crucial role in providing information on the SOST gene, its variant changes, and their functional effects. They serve as valuable resources for researchers, clinicians, and individuals interested in studying or diagnosing sclerosing bone dysplasia and other related conditions.

References

  • OMIM: A database of genes and genetic disorders. Provides detailed information on SOST gene variants and related diseases.
    https://omim.org/entry/605740
  • PubMed: A scientific database for biomedical literature. Contains articles on SOST gene testing, functional changes, and related conditions.
    https://pubmed.ncbi.nlm.nih.gov
  • GeneTests: A comprehensive testing resource for genetic disorders. Offers information on SOST-related conditions and testing options.
    https://gene-tests.org
  • SOST-Related Diseases Registry: A registry for individuals with SOST-related conditions. Provides additional resources and support.
    https://sost-registry.org
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.