The ABCA3 gene is a genetic resource that provides information on pulmonary surfactant metabolism and function. It is known to lead to respiratory distress and other complications related to pulmonary dysfunction. Mutations in this gene can cause changes in the structure and tension of surfactant proteins, leading to respiratory distress and lung fibrosis.
The ABCA3 gene is listed in various genetic databases and registries, serving as a valuable tool for genetic testing and diagnosis of pulmonary diseases. It is particularly relevant for conditions like idiopathic pulmonary fibrosis, where abnormalities in this gene are found to be a common cause.
In addition to the genetic information and testing resources, the ABCA3 gene has also been extensively researched in scientific articles and publications. PubMed provides a comprehensive catalog of articles related to this gene, which can be a valuable source of information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of pulmonary diseases.
The ABCA3 gene is a key player in maintaining normal pulmonary function and health. It is essential for the production and regulation of surfactant, a substance that helps in the proper functioning of the lungs. Dysfunctional variants of this gene can lead to various respiratory disorders, making it an important gene to study and understand.
Health Conditions Related to Genetic Changes
Genetic changes in the ABCA3 gene can lead to various health conditions. These conditions are listed below:
- Surfactant protein-c related pulmonary alveolar proteinosis 3: This condition is a rare lung disorder characterized by abnormal accumulation of surfactant proteins in the alveoli, leading to breathing difficulties.
- Pulmonary fibrosis, idiopathic, and susceptibility to: Genetic changes in the ABCA3 gene can increase the risk of pulmonary fibrosis, a disease characterized by the formation of scar tissue in the lungs.
- Additional health conditions: Other health conditions related to genetic changes in the ABCA3 gene may exist but are not currently listed in available databases.
To learn more about these health conditions, you can refer to the following resources:
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- OMIM: The Online Mendelian Inheritance in Man (OMIM) provides information on genes, diseases, and genetic variants. You can search for the ABCA3 gene and related conditions on the OMIM website.
- PubMed: PubMed is a database of scientific articles. Searching for “ABCA3 gene” or specific health conditions can provide you with additional scientific references.
- Genetic testing: Genetic testing can identify abnormal genetic changes in the ABCA3 gene. Speak to a genetics professional to discuss the possibility of genetic testing for the listed health conditions.
- Surfactant protein-c related pulmonary alveolar proteinosis 3 registry: This registry collects information on individuals with surfactant protein-c related pulmonary alveolar proteinosis 3. It can provide further resources and support.
It is important to note that genetic changes in the ABCA3 gene are not always associated with health conditions. Some genetic changes may be considered normal variations or have unknown effects.
| Gene | Health Conditions |
|---|---|
| ABCA3 | Surfactant protein-c related pulmonary alveolar proteinosis 3, Pulmonary fibrosis, idiopathic, and susceptibility to |
Surfactant dysfunction
Surfactant dysfunction refers to abnormal function or deficiency of surfactant proteins, which can lead to pulmonary changes and breathing difficulties. Surfactant is a mixture of proteins and lipids that reduces surface tension in the lungs and helps keep the airways open.
This condition can occur as a result of genetic changes in the ABCA3 gene, which codes for a protein involved in surfactant production. Surfactant dysfunction can also be caused by other genetic variants or environmental factors.
In normal conditions, surfactant prevents the alveoli in the lungs from collapsing and helps maintain proper lung function. However, when surfactant dysfunction occurs, it can lead to surfactant deficiency or abnormal surfactant composition.
Surfactant dysfunction can contribute to various lung diseases, such as idiopathic pulmonary fibrosis. It is important to diagnose and treat surfactant dysfunction to improve respiratory health and overall well-being.
Testing for surfactant dysfunction may involve genetic testing to identify variants in the ABCA3 gene or other genes involved in surfactant production. Additional tests, such as lung function tests and imaging studies, may also be conducted to evaluate the extent of lung impairment.
Resources for further information on surfactant dysfunction, genetic testing, and related diseases can be found in scientific articles, databases, and registries. Some of these resources include PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic testing catalogs. These resources provide access to the latest research, articles, and references on surfactant dysfunction and related topics.
- PubMed – a database of scientific articles and references
- OMIM – an online catalog of genetic diseases and associated genes
- Genetic testing catalogs – provide information on available genetic tests for surfactant dysfunction and other genetic conditions
By understanding the causes and mechanisms of surfactant dysfunction, healthcare professionals can develop better diagnostic and treatment strategies for individuals with this condition. Early diagnosis and intervention can help improve respiratory function and overall health outcomes.
Idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis (IPF), a type of interstitial lung disease, is a chronic and progressive condition that leads to scarring and stiffness of the lungs. It is characterized by the abnormal buildup of fibrotic tissue in the lungs, which restricts breathing and leads to respiratory dysfunction.
This condition is not related to any known cause or specific risk factor, hence the term “idiopathic”. The exact cause of IPF is still unknown, but it is believed to involve a complex interaction of genetic and environmental factors. Studies have identified several genes, including the ABCA3 gene, that may play a role in the development of IPF.
The ABCA3 gene is responsible for the production of a surfactant protein called ATP-binding cassette subfamily A member 3. Surfactant proteins are essential for normal lung function, as they help reduce surface tension within the alveoli (air sacs) of the lungs, allowing for efficient gas exchange during breathing. Dysfunction or abnormal changes in this gene can lead to pulmonary fibrosis.
Scientific information on the ABCA3 gene and its role in IPF can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases, including IPF, and lists the ABCA3 gene as a potential causative gene. PubMed, a database of scientific articles, also provides numerous references on the topic.
In addition, there are genetic testing and screening methods available to detect variants or abnormalities in the ABCA3 gene that may contribute to IPF. These tests can be helpful in diagnosing the condition, predicting prognosis, and guiding treatment decisions.
It is important to note that IPF is just one of many conditions that can be caused by abnormalities in the ABCA3 gene. This gene has also been associated with other interstitial lung diseases and respiratory conditions, highlighting its significance in pulmonary health.
Further research and understanding of the ABCA3 gene and its role in IPF are needed to develop more targeted therapies and interventions for this devastating disease.
Other Names for This Gene
- ABCA3
- ABC-R
- EST111405
- LBM180
- PDS
The ABCA3 gene, also known as ABC-R, EST111405, LBM180, or PDS, provides instructions for making a protein that is involved in the normal function of the lungs. This protein is primarily found in the cells of the lungs, where it plays a critical role in the production of surfactant. Surfactant is a mixture of proteins and lipids that helps reduce surface tension in the air sacs of the lungs, allowing for normal breathing.
Changes in the ABCA3 gene can lead to a variety of pulmonary conditions, including surfactant dysfunction, abnormal lung development, and idiopathic interstitial pneumonia. Mutations of this gene are known to cause genetic changes that affect the function of the ABCA3 protein, leading to these conditions.
Other names for the ABCA3 gene, as listed in scientific databases and resources, include ABCA3 variant, ABCA3 protein, and pulmonary surfactant metabolism dysfunction, among others. These names reflect the various roles and functions of the gene and protein in the development and maintenance of normal lung function.
For additional information on the ABCA3 gene and related conditions, genetic testing, and resources, refer to the OMIM database, PUBMED articles, and other references available in scientific databases and registries.
Additional Information Resources
Here is a list of resources where you can find additional information about the ABCA3 gene:
- Surfactant Protein Variants – A catalog of genetic changes and variant proteins found in surfactant proteins, including ABCA3. This resource provides information on the normal function of the gene and its role in surfactant production. (http://www.surfactantprotein.com)
- Registry of Pulmonary Fibrosis Genes – A database that compiles genetic information related to pulmonary fibrosis. It includes names and information on genes implicated in the development of the condition. (http://www.pulmonaryfibrosisregistry.org)
- Genetic Testing Resources – Provides information on genetic tests available for ABCA3 gene and other related genes. It offers guidance on the testing process, conditions for testing, and interpretation of test results. (http://www.genetictestingresources.org)
- OMIM – Online Mendelian Inheritance in Man is a comprehensive resource that provides genetic information on various diseases, including those associated with the ABCA3 gene. It offers detailed scientific articles, references, and related information. (https://omim.org)
- PubMed – A widely used database of scientific articles on various topics, including genetics and pulmonary diseases. Searching for “ABCA3 gene” on PubMed will provide you with a list of relevant research articles and studies. (https://pubmed.ncbi.nlm.nih.gov)
These resources will help you acquire additional information on the ABCA3 gene, its role in surfactant production and pulmonary diseases, as well as provide access to scientific articles, references, and related genetic databases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests available for idiopathic pulmonary fibrosis (IPF) and other related conditions. This registry provides a valuable resource for individuals and healthcare professionals seeking information on available genetic tests.
IPF is a chronic and progressive lung disease characterized by abnormal scarring of the lung tissue. It is often referred to as “idiopathic” because the exact cause of the disease is unknown. However, research has shown that changes in genes such as the ABCA3 gene may lead to abnormalities in surfactant proteins, which play a role in maintaining normal pulmonary function.
Genetic testing for IPF and related diseases can help identify changes in the ABCA3 gene and other genes associated with surfactant proteins. This testing can provide important information for diagnosis, treatment, and management of these conditions.
The GTR includes a wide range of genetic tests that can be used to identify variants in the ABCA3 gene and other genes related to pulmonary dysfunction. It provides detailed information on these tests, including the genes tested, the scientific names and catalog numbers of the tests, and links to additional resources and databases such as PubMed and PubChem.
By listing the available tests, the GTR helps individuals and healthcare professionals navigate the complex landscape of genetic testing. It provides a centralized source of information, making it easier to find and compare tests for specific conditions.
Overall, the Genetic Testing Registry is a valuable tool for individuals and healthcare professionals seeking information on genetic testing for idiopathic pulmonary fibrosis and related conditions. It provides a comprehensive catalog of tests, along with resources, references, and databases, making it easier to access the information needed for accurate diagnosis and management of these diseases.
Scientific Articles on PubMed
PubMed provides a comprehensive collection of scientific articles related to the ABCA3 gene and its abnormal changes in pulmonary conditions. This resource offers a valuable platform for further research and testing in the field of pulmonary fibrosis, idiopathic breathing difficulties, and other related diseases.
The articles listed on PubMed cover a wide range of topics, including the genetic basis of these conditions, the role of the ABCA3 gene in surfactant and pulmonary function, and the impact of genetic variants on health. You can find additional references to genetic testing, registry databases, and the catalog of genes and proteins related to pulmonary diseases.
Furthermore, PubMed provides information on other genetic conditions and genes that may be related to pulmonary fibrosis and breathing abnormalities. It is a valuable resource for researchers and healthcare professionals to stay informed about the latest advancements in the field.
Scientific articles on PubMed can lead to a better understanding of the ABCA3 gene and its role in pulmonary diseases. They offer insights into potential treatments, diagnostic tests, and therapeutic strategies for patients with these conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on abnormal changes in the ABCA3 gene that are related to pulmonary dysfunction and other breathing-related diseases. The ABCA3 gene is known to lead to different conditions, including surfactant protein dysfunction and idiopathic pulmonary fibrosis.
This catalog lists the genetic variants and names for these diseases as well as additional resources for testing and genetic registry databases. It offers scientific articles, PubMed references, and other resources for further reading and information on this topic.
The ABCA3 gene is associated with a variety of pulmonary conditions and is an important gene to study for pulmonary health. Testing for genetic variants in this gene can help in the diagnosis and treatment of these conditions.
OMIM is a comprehensive database that provides detailed information on genetic diseases and their associated genes. It is a valuable resource for researchers, clinicians, and individuals seeking information on genetic conditions and their causes.
Use the links below to access more information on specific genes and diseases listed in the OMIM catalog:
- ABCA3 gene
- Surfactant protein dysfunction
- Idiopathic pulmonary fibrosis
- Additional resources
By exploring the OMIM catalog and conducting further research, scientists and healthcare professionals can gain a better understanding of the genetic factors contributing to pulmonary diseases and work towards improved treatments and interventions.
Gene and Variant Databases
The ABCA3 gene is associated with pulmonary surfactant metabolism dysfunction, a condition that leads to abnormal breathing and lung fibrosis. Variants in this gene can cause changes in the proteins it produces, leading to dysfunction in the production or function of pulmonary surfactant.
There are several databases available to provide information on the ABCA3 gene and its variants. These databases catalog genetic changes and provide additional resources for testing, research, and clinical management of genetic diseases related to the ABCA3 gene.
The following is a list of gene and variant databases for the ABCA3 gene:
- ABCA3 Registry: A comprehensive online database that collects and stores information on genetic changes in the ABCA3 gene and their associated clinical features.
- OMIM (Online Mendelian Inheritance in Man): A curated database of human genes and genetic disorders that provides detailed information on the ABCA3 gene and its variants.
- PubMed: A database of scientific articles and references, PubMed includes information on genetic changes in the ABCA3 gene and their relation to pulmonary surfactant metabolism dysfunction.
These databases offer valuable resources for researchers, healthcare professionals, and individuals interested in learning more about the ABCA3 gene and its association with pulmonary diseases. They provide access to genetic testing information, references to related scientific articles, and other relevant resources for the study and management of genetic conditions.
References
- Abnormal Surfactant Protein A3 Protein production leads to pulmonary fibrosis.
- This idiopathic pulmonary fibrosis is related to a genetic dysfunction in the ABCA3 gene.
- Health conditions related to abnormal ABCA3 gene: pulmonary fibrosis and other pulmonary diseases.
- The ABCA3 gene provides instructions for making a protein that is involved in the production of surfactant, a substance that reduces surface tension in the lungs and is essential for normal breathing.
- For more information on the ABCA3 gene, refer to the OMIM database.
- OMIM provides information on genes and genetic changes that lead to various diseases and conditions.
- Scientific articles on the ABCA3 gene and its variant can be found on PubMed.
- Testing for ABCA3 gene abnormalities can be done through genetic testing and other diagnostic tests.
- The Genetic Testing Registry lists laboratories that offer testing for this gene.
- The Catalog of Human Genes and Genetic Disorders is another resource for information on genes and genetic conditions.