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The SFTPB gene is responsible for the production of surfactant protein-B (SP-B), a protein that plays a crucial role in maintaining the health and function of the pulmonary surfactant. Mutations in this gene are associated with various genetic conditions and diseases, leading to the loss of SP-B and causing surfactant dysfunction.

Testing for variants in the SFTPB gene is essential for the diagnosis and management of surfactant-associated disorders. These tests can help to identify the specific changes in the gene that are causing the dysfunction and provide valuable information for genetic counseling. The SFTPB gene is listed in the OMIM catalog, which provides detailed information on genes and genetic conditions.

Scientific articles and references on the SFTPB gene can be found in databases such as PubMed. Additional resources, such as the Genetic Testing Registry, provide information on available tests for SFTPB gene variants and their associated diseases. This registry can help healthcare professionals and individuals seeking information about surfactant dysfunction and related genetic conditions.

In conclusion, the SFTPB gene is a key player in surfactant-associated diseases, and testing for variants in this gene is crucial for the diagnosis, management, and genetic counseling of affected individuals. The loss of surfactant protein-B due to mutations in the SFTPB gene can lead to surfactant dysfunction, causing various pulmonary conditions. Therefore, understanding the function and genetic changes in the SFTPB gene is essential for advancing our knowledge and improving healthcare in this field.

Genetic changes in the SFTPB gene have been found to be related to various health conditions. These changes can cause loss or dysfunction of the SP-B protein, leading to surfactant-associated pulmonary diseases. The following resources provide more information on these conditions:

  • Pulmonary Surfactant Dysfunction: This condition is caused by genetic changes in the SFTPB gene. It leads to a malfunction in the production of pulmonary surfactant, which is essential for proper lung function.
  • Surfactant-Associated Pulmonary Diseases: These are a group of diseases caused by genetic changes in surfactant-associated genes, including the SFTPB gene. These conditions can affect the lungs and cause respiratory difficulties.

The following resources can provide more information and research articles on these conditions:

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  • OMIM: This is a catalog of human genes and genetic disorders. It provides detailed information on the SFTPB gene and its associated diseases.
  • PubMed: This is a database of scientific articles. Searching for the SFTPB gene or the specific health conditions related to its genetic changes can provide additional information and references.

If you suspect that you or someone you know may have a genetic variant in the SFTPB gene, genetic testing can provide more information. It is recommended to consult with healthcare professionals for further guidance and to access appropriate resources.

Surfactant dysfunction

Surfactant dysfunction is a condition that is caused by changes in the SFTPB gene. This gene provides instructions for making a protein called SP-B, which is essential for proper surfactant function. Surfactant is a substance that helps to lower the surface tension in the lungs, allowing them to expand and contract with ease during breathing.

See also  Stickler syndrome

Testing for surfactant dysfunction involves a series of steps. Genetic testing can be done to identify any changes in the SFTPB gene that may be causing the dysfunction. Other tests, such as pulmonary function tests, may also be done to assess lung health and function.

Surfactant dysfunction can lead to a variety of pulmonary conditions, including surfactant-associated respiratory distress syndrome (SARDS) and other surfactant-related diseases. These conditions can cause difficulty breathing, lung infections, and other respiratory symptoms.

Additional information on surfactant dysfunction and related conditions can be found in scientific articles and resources. The OMIM database and PubMed are valuable sources for finding articles and references on this topic.

Surfactant dysfunction is not limited to genetic changes in the SFTPB gene. Other genetic changes in other surfactant-associated genes, such as the SP-C gene variant, can also contribute to surfactant dysfunction and related diseases.

For more information on surfactant dysfunction and genetic changes related to surfactant dysfunction, consult the OMIM database and PubMed registry. These resources provide additional information and references on this topic.

References:

  • Gene Catalog – SFTPB Gene
  • OMIM – Surfactant Dysfunction
  • PubMed – Surfactant Dysfunction and Related Conditions

Other Names for This Gene

The SFTPB gene is also known by other names:

  • Surfactant Associated 1 (SFTPA1), Surfactant Associated 2 (SFTPA2), Surfactant Associated 3 (SFTPA3): These are other surfactant-associated genes that are related to SFTPB and play a role in pulmonary surfactant dysfunction.
  • Surfactant Protein B: This is the protein encoded by the SFTPB gene. It is involved in the formation and maintenance of the lung’s surfactant, which is crucial for preventing the alveoli in the lungs from collapsing during breathing.
  • Surfactant-Associated Protein B: This is another name for the surfactant protein B encoded by the SFTPB gene.
  • SP-B: This is the abbreviated form of Surfactant Protein B.
  • Genes Related to Pulmonary Surfactant Dysfunction: SFTPB is one of several genes associated with pulmonary surfactant dysfunction, which can lead to various respiratory diseases and disorders.
  • SP-B Deficiency: Mutations in the SFTPB gene can cause SP-B deficiency, a genetic disorder characterized by the loss or reduction of functional SP-B protein.
  • Surfactant Dysfunction, Pulmonary, 1, Autosomal Recessive: This is a specific type of surfactant dysfunction caused by mutations in the SFTPB gene. It is characterized by severe respiratory distress and lung abnormalities.

These are the various names and related terms for the SFTPB gene, which can be referred to in scientific articles, references, databases, and resources related to the genetic testing, function, and disorders associated with this gene.

Additional Information Resources

Additional information on the SFTPB gene and genetic conditions related to surfactant production and function can be found in the following resources:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SFTPB gene, as well as other genes involved in surfactant-associated diseases. OMIM also includes references to scientific articles and other resources for further reading.
  • PubMed: PubMed is a database of scientific articles in the field of health and biology. Searching for “SFTPB gene” or “surfactant protein B” on PubMed can provide access to relevant research articles and studies on this topic.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for surfactant dysfunction and other genetic conditions. It includes details on the steps involved in testing, as well as references to scientific publications related to the genetic tests.
  • Surfactant Registry: The Surfactant Registry is a resource for patients and healthcare providers seeking information on surfactant dysfunction and related conditions. It provides information on changes in surfactant proteins and genes, variant names, and associated diseases.
See also  PEX1 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of genetic tests for various diseases and conditions. The tests listed in the GTR are from scientific research and medical databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These tests are designed to identify changes or variations in specific genes that are known to be associated with certain genetic conditions.

For the SFTPB gene, which is involved in surfactant-associated protein B production, the GTR lists several tests. These tests are aimed at diagnosing surfactant dysfunction and related respiratory conditions caused by changes in the SFTPB gene.

Here is a summary of the tests listed in the GTR for SFTPB:

  • Surfactant-associated protein B (SP-B) deficiency testing
  • Surfactant-associated protein C (SP-C) deficiency testing
  • Surfactant gene panel testing
  • And other related tests

The GTR provides additional information for each test, such as the specific changes or variants in the SFTPB gene that are tested, the associated diseases or conditions, and references to scientific articles and resources for further information.

Healthcare professionals and individuals interested in genetic testing for surfactant dysfunction or related conditions can refer to the GTR for a comprehensive catalog of available tests. The GTR serves as a valuable resource for understanding the genetic basis of pulmonary surfactant dysfunction and for accessing relevant genetic testing options.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SFTPB gene and surfactant-associated proteins. It contains a vast catalog of articles on various topics, including genetic testing, genetic changes, and related diseases and conditions.

When searching for articles on PubMed related to the SFTPB gene, surfactant-associated proteins, or surfactant dysfunction, it’s important to use relevant keywords and search terms. Some of the keywords you can use are “SFTPB gene,” “SP-B genetic variant,” “surfactant-associated proteins,” and “surfactant dysfunction.”

The articles listed in PubMed provide crucial information on genetic changes and the molecular mechanisms underlying surfactant dysfunction. They also discuss the steps involved in genetic testing and the identification of genetic variants associated with pulmonary diseases and other health conditions.

The PubMed database is regularly updated with new scientific articles, making it an excellent resource for staying up-to-date with the latest research on the SFTPB gene and surfactant-related conditions.

References to other databases, such as OMIM (Online Mendelian Inheritance in Man), may be provided in the articles listed on PubMed. These references can provide additional information on specific genetic variants, their impact on protein function, and the diseases they are associated with.

Overall, PubMed is a comprehensive source of scientific articles on SFTPB gene-related surfactant dysfunction and its associated proteins. It serves as a valuable tool for researchers and healthcare professionals alike, providing up-to-date information on the genetic basis of surfactant dysfunction and its implications for human health.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a continuously updated catalog of human genes and genetic disorders. It provides a comprehensive resource for researchers, clinicians, and individuals interested in genetic diseases.

The SFTPB gene, also known as surfactant protein B, is listed on OMIM as a genetic cause of pulmonary surfactant dysfunction. Surfactant is a complex mixture of proteins and lipids that lines the alveoli, promoting lung function and preventing collapse. Mutations in the SFTPB gene can lead to surfactant malfunction, causing various pulmonary conditions.

OMIM provides a registry of diseases caused by genetic changes in the SFTPB gene, including surfactant protein B deficiency. These conditions are listed with references to scientific articles and other resources, such as Pubmed, for further reading and information.

See also  Triosephosphate isomerase deficiency

In addition to SFTPB, other genes associated with surfactant dysfunction, such as SFTPC, are also cataloged on OMIM. These genes play a crucial role in surfactant production, and mutations in them can lead to various lung disorders.

  • Testing for genetic variants in surfactant-associated genes can be done through genetic testing services and laboratories.
  • OMIM provides a list of recommended genes to test for in patients with suspected surfactant dysfunction, including SFTPB and SFTPC.
  • Healthcare professionals can use this catalog of genes and diseases to guide diagnostic steps and identify potential causes of pulmonary issues.

OMIM serves as a valuable resource for understanding the genetic basis of pulmonary surfactant dysfunction and related conditions. By providing information on genes, genetic variants, diseases, and references to scientific articles, OMIM helps advance research and improve medical care for individuals with surfactant-related disorders.

Gene and Variant Databases

A catalog of genes and variants related to the SFTPB gene and its associated protein, surfactant protein-B (SP-B), can be found in various genetic databases. These databases provide valuable information on genetic changes causing surfactant-associated pulmonary diseases and other related conditions.

One of the primary resources for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM lists the SFTPB gene and provides references to scientific articles and resources related to genetic changes in this gene. It also includes information on diseases and conditions associated with dysfunctions of SP-B.

Another commonly used database is PubMed, which allows users to search for articles and references on various topics, including the SFTPB gene and surfactant proteins. This database provides a comprehensive collection of scientific literature on genetic testing, loss-of-function variants, and other changes in the SFTPB gene.

In addition to these databases, there are other resources available for finding information on the SFTPB gene and surfactant proteins. These include gene registries, which collect and store genetic and clinical information on specific genes, and variant databases, which catalog specific genetic variants and their associated phenotypes.

Database Description
OMIM Online Mendelian Inheritance in Man. Provides comprehensive information on genetic disorders.
PubMed Database of scientific articles and references.
Gene registries Collect and store genetic and clinical information on specific genes.
Variant databases Catalog genetic variants and their associated phenotypes.

These databases and resources are essential for researchers, clinicians, and individuals interested in studying or understanding the SFTPB gene, surfactant proteins, and their role in health and disease.

It is important to note that the SFTPB gene may also be referred to by other names, such as surfactant protein-B (SP-B) gene. These alternative names can be used when searching for information in the databases and resources mentioned above.

References

  • Surfactant Proteins Gene (SFTPB) – Genetics Home Reference – NIH.
    In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2021 Dec 13]. Available from: https://ghr.nlm.nih.gov/gene/SFTPB
  • Surfactant Proteins Gene (SFTPB) – OMIM Gene – NIH.
    In: OMIM [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2021 Dec 13]. Available from: https://www.omim.org/gene/178640
  • Surfactant Proteins Gene (SFTPB) – Genecards.
    In: Genecards [Internet]. Tel Aviv (Israel): Weizmann Institute of Science; [cited 2021 Dec 13]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPB
  • Surfactant Proteins Gene (SFTPB) – NCBI Gene – NIH.
    In: NCBI Gene [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2021 Dec 13]. Available from: https://www.ncbi.nlm.nih.gov/gene/6439
  • Surfactant proteins, pulmonary-related disease – PubMed – NCBI.
    In: PubMed [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2021 Dec 13]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=surfactant+proteins+pulmonary-related+disease

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