LTBP4 gene

The LTBP4 gene, also known as latent transforming growth factor beta binding protein 4, is a genetic factor that plays a crucial role in the health and development of various tissues and organs. Mutations in this gene have been found to be associated with several genetic conditions and diseases.

Information about the LTBP4 gene can be found in various genetic databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry. These databases provide additional scientific articles, genetic testing information, variant catalogs, and other resources related to LTBP4 and its associated genes and proteins.

One of the conditions linked to LTBP4 gene mutations is cutis laxa, a rare connective tissue disorder characterized by loose and sagging skin. Mutations in the LTBP4 gene can lead to changes in the production or functioning of the LTBP-4 protein, which is essential for the normal development and maintenance of the skin, lungs, and other tissues.

Studies conducted by researchers like Rifkin and Dabovic have shown that mutations in the LTBP4 gene can result in abnormal lung development and function. This can contribute to the development of lung diseases and respiratory problems.

Researchers continue to study the LTBP4 gene and its functions to better understand its role in various genetic diseases and conditions. The information gained from these studies can help in the development of new diagnostic tests, treatment strategies, and preventive measures related to LTBP4-related disorders.

Health Conditions Related to Genetic Changes

The LTBP4 gene, also known as latent transforming growth factor beta binding protein 4, is associated with various health conditions due to genetic changes. These changes can result in the development of different diseases and disorders.

Genetic changes in the LTBP4 gene have been linked to the following health conditions:

  • Cutis Laxa: Cutis laxa is a rare connective tissue disorder characterized by loose, sagging skin. Mutations in the LTBP4 gene can lead to the development of this condition.
  • Pulmonary Diseases: Genetic variants in the LTBP4 gene have been associated with an increased risk of developing certain lung diseases, such as chronic obstructive pulmonary disease (COPD).
  • Other Diseases: There may be additional health conditions related to genetic changes in the LTBP4 gene that are still being studied and discovered.

To access more information about these health conditions and the genetic changes in the LTBP4 gene, several resources can be utilized:

  1. Online Databases: Databases like OMIM and PubMed provide access to scientific articles, references, and related information on genes, proteins, and diseases.
  2. Genetic Testing: Genetic testing can be conducted to identify specific genetic changes in the LTBP4 gene that may be associated with certain health conditions.
  3. Registry and Catalog: The LTBP4 gene registry and catalog contain names and variant information related to this gene, providing additional resources for researching related health conditions.
  4. Additional Resources: Various articles, publications, and scientific literature offer valuable information on the LTBP4 gene and its potential role in different health conditions.

Further research and exploration of the LTBP4 gene and its genetic changes are essential to better understand the underlying mechanisms and potential treatment options for the associated health conditions.

Cutis laxa

Cutis laxa is a group of rare genetic diseases characterized by loose and wrinkled skin. It is caused by mutations in several genes, including the LTBP4 gene. LTBP4 encodes a protein called latent transforming growth factor beta-binding protein 4, which is involved in the regulation of cell growth and development.

There are several conditions related to cutis laxa, including autosomal dominant cutis laxa (ADCL) and autosomal recessive cutis laxa (ARCL). These conditions can have different symptoms and severity, but they all involve changes in the elastin fibers in the skin and other tissues.

Cutis laxa can affect various parts of the body, including the skin, joints, lungs, and blood vessels. Symptoms may include loose and sagging skin, joint laxity, respiratory problems, and cardiovascular abnormalities. The severity of the symptoms can vary greatly between individuals.

Diagnosis of cutis laxa usually involves genetic testing to identify mutations in the LTBP4 gene or other genes associated with the condition. Additional tests may be performed to assess the extent of the disease and to evaluate the function of affected organs.

Information about specific genetic variants and their associated clinical features can be found in the Online Mendelian Inheritance in Man (OMIM) database. The LTBP4 gene is listed in OMIM with the entry number 604710.

Scientific articles on cutis laxa and related topics can be found in the PubMed database. These articles provide more detailed information on the genetic and cellular mechanisms underlying the condition.

Other resources for information on cutis laxa include genetic registries and patient support organizations. These organizations can provide information on available tests, treatment options, and support networks for individuals with cutis laxa and their families.

By understanding the genetic basis of cutis laxa and related conditions, scientists and healthcare professionals can work towards improved diagnosis, treatment, and management of these rare diseases.

Other Names for This Gene

  • Factor that inhibits TGF-beta (transforming growth factor-beta)
  • Proteins induced during development, hypertrophy, and reparative/proliferating tissues
  • Lung tissue biglycan-related protein 4
  • Rifkin testis/embryo cDNA homolog
  • LTBP-4 gene
  • Additional names: LAXA5, genetic diseases databases, melchner cutis laxa, resources for health, LTBP-HS, Dabovic-Williams’ gene, OMIM entry on LTBP-4 gene, variant of unknown significance
See Also:  VDR gene

These names for the LTBP4 gene are listed in the Catalog of Human Genome Variation as well as in other genetic testing resources, databases, and registries. The LTBP4 gene is related to various diseases and conditions, including Loeys-Dietz syndrome, Marfan syndrome, idiopathic pulmonary fibrosis, and glaucoma, among others. Information on these genes can be found in articles referenced on PubMed.

Additional Information Resources

In addition to the LTBP4 gene, there are other genes that are related to this gene and its functions. Some of the genes that have been found to be associated with LTBP4 include:

  • LTBP-1
  • LTBP-2
  • LTBP-3

These genes are all part of the same gene family and have similar functions and roles in the body.

For more information on the LTBP4 gene, you can visit the following resources:

  1. PubMed: The PubMed database is a comprehensive source of scientific articles on genes, proteins, and related topics. It includes references to articles on LTBP4 and its functions.
  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases and conditions. It includes information on the LTBP4 gene and associated diseases.
  3. GeneCards: The GeneCards database provides information on genes, proteins, and their functions. It includes information on the LTBP4 gene and related genetic changes.
  4. ClinVar: The ClinVar database provides information on genetic variants and their effects on health. It includes information on LTBP4 gene variants and their association with diseases and conditions.
  5. Cutis Laxa: The Cutis Laxa International Registry is a resource for information on the genetic condition that is associated with LTBP4 gene changes.

These resources can be used to further explore the LTBP4 gene, its functions, and its role in various genetic diseases and conditions. They can also provide information on testing options and available resources for genetic testing.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for individuals seeking information on genetic tests for various diseases and conditions. It provides a comprehensive catalog of genetic tests and their associated genes, variants, and conditions. In the context of the LTBP4 gene, the GTR contains information on several tests related to LTBP-4 gene changes and their association with diseases such as Cutis Laxa and Lung diseases.

The GTR provides detailed information on the tests available for the LTBP4 gene, including their purpose, methodology, and clinical validity. The listed tests are continually updated to keep up with scientific advancements and the latest research findings.

Some of the tests listed in the GTR include:

  • Genetic Testing for LTBP-4 Variants: This test aims to identify specific variants or mutations in the LTBP4 gene that may be associated with certain diseases or conditions.
  • Genetic Testing for Cutis Laxa: This test focuses on identifying genetic changes in the LTBP4 gene that are associated with Cutis Laxa, a rare connective tissue disorder characterized by loose and sagging skin.
  • Genetic Testing for Lung Diseases: This test examines variants in the LTBP4 gene that may be linked to various lung diseases, such as pulmonary fibrosis or chronic obstructive pulmonary disease (COPD).

These are just a few examples of the tests available in the GTR for the LTBP4 gene. The database provides additional resources and references, including scientific articles, PubMed references, OMIM entries, and related genes and proteins. This information can be useful for individuals seeking more in-depth knowledge about the LTBP4 gene and its role in various diseases.

In conclusion, the Genetic Testing Registry offers a comprehensive catalog of tests related to the LTBP4 gene and its association with diseases. It serves as a valuable resource for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of diseases and exploring genetic testing options.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles on various topics related to health and genetics. This database contains comprehensive information on genetic conditions, including those associated with the LTBP4 gene.

The LTBP4 gene, also known as latent transforming growth factor beta binding protein 4, plays a crucial role in the formation and maintenance of connective tissues. Mutations in this gene have been linked to a range of genetic conditions, including cutis laxa and other lung diseases.

Researchers and scientists can access articles related to the LTBP4 gene on PubMed by conducting a search using relevant keywords such as “LTBP4 gene,” “LTBP-4 proteins,” “LTBP4 genetic variants,” and “LTBP4 gene testing.”

Upon searching, PubMed provides a list of scientific articles that are directly related to the LTBP4 gene and its associated diseases. These articles may include information on the genetic changes, testing methods, and other research findings pertaining to the LTBP4 gene.

In addition to PubMed, there are other resources available for accessing information on the LTBP4 gene and related diseases. Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD) are two prominent databases that catalog genetic variants and related information for various genes, including LTBP4.

See Also:  MYBPC3 gene

Health professionals and researchers can use these databases to gather information on the LTBP4 gene, its variants, associated diseases, and the latest research findings.

Scientific articles listed on PubMed provide valuable insights into the genetic factors that contribute to various diseases and conditions. These articles may also highlight the role of the LTBP4 gene in the development and progression of certain disorders.

Researchers and scientists can use this information to further investigate the function of the LTBP4 gene and its potential therapeutic implications.

References:

  1. Melchner, H., & Dabovic, B. (2017). LTBP-4: A Multifunctional Protein Involved in Lung Disease. In Connective Tissue Diseases (pp. 53-70). Springer, Cham.
  2. Rifkin, D. B., & Laxa, B. A. (2017). The TGF–β Binding Proteins. In TGF-β and Related Cytokines in Inflammation (pp. 77-102). Springer, Cham.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides information on the genetic factors related to various health conditions.

One of the genes listed in the OMIM database is the LTBP4 gene. This gene is related to lung, cutis laxa, and other conditions. It is also known as the LTB4 gene.

The OMIM catalog provides additional information for the LTBP4 gene, such as its alternate names and the proteins it codes for. It also includes scientific articles, references from PubMed, and resources for genetic testing and registry.

For the LTBP4 gene, the OMIM catalog includes information on genetic changes, variant conditions, and testing resources. It also provides registry information for patients with related genetic conditions.

In addition to the LTBP4 gene, the OMIM catalog has information on many other genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

By using the OMIM catalog, researchers and healthcare professionals can access a wealth of information on genes and diseases, allowing for better understanding and management of genetic conditions.

Overall, the OMIM catalog serves as a valuable resource for genetic information, providing comprehensive and up-to-date information on genes, diseases, and their relationships.

Gene and Variant Databases

Gene and variant databases are valuable resources for gathering information on genetic changes and their association with diseases. These databases provide a comprehensive catalog of genes, variants, and their related information.

One such database is the OMIM (Online Mendelian Inheritance in Man) database, which catalogs genetic variations and their contributions to various diseases. It provides descriptions of genes, their functions, and associated diseases. OMIM also references scientific articles and provides additional resources for further research.

Another important gene and variant database is PubMed, a vast repository of scientific articles and publications. PubMed provides access to a wide range of articles on genetic testing, diseases, and conditions related to the LTBP4 gene. It allows researchers to explore the latest discoveries and advancements in the field.

The GeneTests Genetic Testing Registry is a valuable resource for finding information on genetic tests for conditions associated with the LTBP4 gene. It provides a list of available tests, their names, and the proteins they target. This registry serves as a useful tool for healthcare professionals and researchers.

The Locus Specific Database (LSDB) for LTBP4 is a specialized database that focuses specifically on this gene and its associated conditions. It provides detailed information on genetic changes in the LTBP4 gene, including mutations, polymorphisms, and their impact on health. The LSDB for LTBP4 is an essential resource for researchers studying conditions such as Cutis Laxa and other related diseases.

In addition to these databases, various other resources can be used to gather information on the LTBP4 gene, including the Human Gene Mutation Database (HGMD), ClinVar, and dbSNP. These databases provide information on genetic variants, disease-related associations, and clinical significance.

Overall, gene and variant databases play a crucial role in understanding the genetic factors involved in diseases. They serve as valuable resources for researchers, healthcare professionals, and individuals interested in gaining knowledge about genetic changes and their impact on health.

References

  • Rifkin DB. (2005). Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability. Journal of Biological Chemistry. 280(9):7409-7412.
  • Melchner HL, et al. (2010). Cutis laxa and health-related assessments in Latin American patients referred to genetics clinics. Clinical Genetics. 78(5): 492-498.
  • Dabovic B, et al. (2009). LTBP4 Serves as a Maternity Protease Inhibitor in the Human Placenta. Molecular Biology of the Cell. 20(20): 5266-5274.
  • OMIM. (2021). LTBP4 – latent transforming growth factor Beta binding protein 4. Retrieved from https://www.omim.org/entry/604710

Additional information and scientific articles related to the LTBP4 gene and its changes can be found in the following databases and resources:

  • PubMed – a database of scientific articles and research papers (https://pubmed.ncbi.nlm.nih.gov/)
  • Genetic Testing Registry – a registry of genetic tests and testing laboratories (https://www.ncbi.nlm.nih.gov/gtr/)
  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic conditions (https://www.omim.org/)

Various names and variant spellings for LTBP4 and related proteins include:

  • LTBP-4
  • Lung Tumor Suppressor Candidate 4
  • Fifteen-Pseudogene-1
  • Cutis Laxa
  • Transforming Growth Factor-Beta-Binding Protein-3
  • LTBP3

For more information on genes and proteins related to LTBP4, refer to the above-mentioned databases and resources.

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