The SLC34A2 gene, also known as sodium-dependent phosphate cotransporter 2A, is a protein-coding gene that is involved in the transport of phosphate ions across cellular membranes. Mutations in this gene have been linked to pulmonary alveolar microlithiasis (PAM), a rare genetic disorder characterized by the formation of calcium phosphate microliths in the alveoli of the lungs.
Scientific information for the SLC34A2 gene can be found in various genetic resources and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Genetic Testing Registry. These resources provide detailed information on the gene, its variants, and their association with pulmonary diseases and other conditions.
Genetic testing for mutations in the SLC34A2 gene can be performed to diagnose pulmonary alveolar microlithiasis and to identify individuals who may be at risk for developing the disease. The SLC34A2 gene is listed in the Genetic Testing Registry, which catalogs genetic tests and the associated health conditions.
In addition to genetic testing, further research and studies are being conducted to understand the changes in the SLC34A2 gene and its variants, and their role in the development and progression of pulmonary alveolar microlithiasis and related diseases. The scientific literature provides valuable insights into the genetics of pulmonary alveolar microlithiasis and serves as a reference for further research and clinical studies.
Overall, the SLC34A2 gene plays a crucial role in the transport of phosphate ions and has been associated with the development of pulmonary alveolar microlithiasis. The availability of genetic resources and databases, along with ongoing research, provides valuable information for understanding the genetic basis and clinical management of this rare genetic disorder.
Health Conditions Related to Genetic Changes
The SLC34A2 gene, which encodes for the sodium-dependent phosphate cotransporter 2B (NPT2b) protein, has been associated with various health conditions. Specifically, genetic changes in this gene have been linked to pulmonary alveolar microlithiasis (PAM).
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Pulmonary alveolar microlithiasis is a rare autosomal recessive disease characterized by the formation of microliths in the alveoli of the lungs. These microliths are small calcium phosphate deposits that can lead to progressive fibrosis and impaired respiratory function.
Genetic testing for mutations in the SLC34A2 gene can be used to confirm a diagnosis of pulmonary alveolar microlithiasis. Several scientific resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide information on the genetic variant names, registry numbers, and protein changes associated with this condition.
Additional health conditions related to genetic changes in the SLC34A2 gene may also exist. For a comprehensive review of diseases associated with genetic changes in specific genes, catalog and family databases can be consulted, which list the crit articles and references on these diseases.
It is important for clinicians and researchers to stay updated on the latest scientific findings and health resources related to genetic changes in the SLC34A2 gene and its impact on respiratory conditions.
Pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by the formation and accumulation of small calcium deposits, known as microliths, in the alveoli (air sacs) of the lungs. These microliths can impair the normal functioning of the lungs and lead to various respiratory symptoms and complications.
The SLC34A2 gene, also known as the sodium-dependent phosphate cotransporter 2B (NPT2B) gene, is associated with pulmonary alveolar microlithiasis. Mutations in this gene can cause dysfunction of the protein encoded by SLC34A2, leading to the abnormal accumulation of calcium in the lungs.
The genetic basis of pulmonary alveolar microlithiasis has been extensively studied, and several mutations in the SLC34A2 gene have been identified in affected individuals. These mutations can be detected through genetic testing, which can help with the diagnosis and genetic counseling of affected individuals and their families.
Information about pulmonary alveolar microlithiasis and the SLC34A2 gene can be found in scientific databases and resources, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other related health and genetic databases. These resources provide references to articles, reviews, and other sources of information about the condition, its genetic basis, testing, and associated conditions.
In addition to genetic testing, pulmonary alveolar microlithiasis is diagnosed through imaging tests, such as X-rays, CT scans, and lung biopsies. These tests can reveal the presence of microliths in the lungs and help confirm the diagnosis.
Currently, there is no specific treatment for pulmonary alveolar microlithiasis. Management of the condition focuses on symptomatic relief and preventing complications associated with impaired lung function. Regular monitoring and follow-up are important to assess disease progression and manage any changes in respiratory function.
In conclusion, pulmonary alveolar microlithiasis is a rare lung disease caused by mutations in the SLC34A2 gene. It is characterized by the accumulation of microliths in the alveoli of the lungs, leading to respiratory symptoms and complications. Genetic testing and diagnostic imaging are used to diagnose the condition. While there is no cure, management strategies aim to alleviate symptoms and prevent complications.
Other Names for This Gene
The SLC34A2 gene is also known by other names:
- Pulmonary Microlithiasis 1
- Pulmonary Alveolar Microlithiasis 1
- Phosphate Transporter, Sodium-Dependent, Type IIA
- SLC34A2-Related Diseases
- Pulmonary Alveolar Microlithiasis
- SLC34A2-Related Genetic Changes
- PAM
- Pulmonary Microlithiasis
- PAM 1
- SLC34A2-Related Variant
- Pulmonary Alveolar Microlithiasis 1, Autosomal Recessive
These names are listed in various scientific articles, genetic databases, and medical resources such as OMIM, PubMed, and the Catalog of Human Genes and Genetic Disorders. They provide additional information and references to related diseases, changes in the SLC34A2 gene, and other genes from the sodium-dependent phosphate cotransporter family.
Additional Information Resources
For additional information on testing for SLC34A2 gene mutations and other cotransporter genes, the following resources can be helpful:
- GeneReviews: This online resource provides comprehensive scientific information on genetic diseases, including pulmonary alveolar microlithiasis.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders, including information on SLC34A2 gene mutations.
- PubMed: This online database contains scientific articles and reviews on various topics, including pulmonary alveolar microlithiasis.
Health-related registries and databases may also provide additional information on SLC34A2 gene mutations and related genetic conditions:
- The Pulmonary Alveolar Microlithiasis Registry: This registry collects information on individuals with pulmonary alveolar microlithiasis for research purposes.
- The Human Gene Mutation Database: This database provides information on gene mutations associated with various genetic disorders, including pulmonary alveolar microlithiasis.
For specific information on SLC34A2 gene mutations and related diseases, the following articles may be of interest:
- “Sodium-dependent phosphate cotransporters and pulmonary alveoli: Role in pulmonary alveolar microlithiasis” – This scientific review discusses the role of sodium-dependent phosphate cotransporters, including SLC34A2, in the formation of pulmonary alveolar microliths.
- “Genetic changes in pulmonary alveolar microlithiasis” – This article provides an overview of genetic changes associated with pulmonary alveolar microlithiasis, including mutations in the SLC34A2 gene.
- “Variant SLC34A2 Alleles in Pulmonary Alveolar Microlithiasis and Nephrolithiasis: Review and Update” – This review article summarizes the current understanding of variant SLC34A2 alleles in both pulmonary alveolar microlithiasis and nephrolithiasis.
Tests Listed in the Genetic Testing Registry
The SLC34A2 gene, also known as the sodium-dependent phosphate cotransporter 2B (NaPi2b) gene, encodes a protein that plays a crucial role in the regulation of phosphate transport in the body. Mutations in this gene can lead to a rare genetic condition called pulmonary alveolar microlithiasis (PAM), characterized by the formation of microliths in the alveolar spaces of the lungs.
Genetic testing for mutations in the SLC34A2 gene can help diagnose individuals with pulmonary alveolar microlithiasis. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for this gene. These tests include:
- Pulmonary alveolar microlithiasis: This test specifically detects mutations in the SLC34A2 gene that are associated with pulmonary alveolar microlithiasis.
- Other genetic conditions: Genetic testing for SLC34A2 gene mutations may also be used to diagnose other rare genetic conditions.
In addition to the specific tests listed above, the GTR also provides references to scientific articles, databases, and other resources that contain information related to the SLC34A2 gene. This includes information on related diseases, additional testing options, and health conditions associated with mutations in this gene.
For more information on the SLC34A2 gene and its role in pulmonary alveolar microlithiasis, please refer to the Online Mendelian Inheritance in Man (OMIM) database, OMIM ID: 615711. Further scientific names and resources can be found on PubMed.
It is important to note that the availability and scope of genetic testing may vary. A thorough review of the GTR catalog can provide more detailed information on the specific tests and resources available for the SLC34A2 gene.
Scientific Articles on PubMed
References to scientific articles on PubMed provide valuable information on the SLC34A2 gene, testing, and reviews of tests conducted on this gene. SLC34A2 gene is responsible for encoding the sodium-dependent phosphate cotransporter 2B protein. Changes in this gene have been linked to various pulmonary conditions, including alveolar microlithiasis.
Family studies listed in PubMed have demonstrated the presence of SLC34A2 gene changes resulting in alveolar microliths and other related diseases. These articles provide critical information on the genetic variant and its role in the development of pulmonary diseases. Additional resources, such as OMIM (Online Mendelian Inheritance in Man) and genetic registries, can further assist in understanding the health implications of SLC34A2 gene changes.
Pulmonary microlithiasis is a rare disease characterized by the accumulation of calcium phosphate microliths in the alveoli, affecting respiratory function. PubMed offers a wealth of scientific articles that explore the relationship between the SLC34A2 gene and microlithiasis.
By searching PubMed, researchers can access studies on other genes involved in alveolar microlithiasis and related conditions. These articles contribute to the collective knowledge on the molecular mechanisms underlying these diseases.
PubMed is a valuable database for researchers and healthcare professionals seeking up-to-date scientific information on the SLC34A2 gene and related topics. It provides a comprehensive collection of articles, allowing users to stay informed about the latest discoveries and advancements in the field of genetics and pulmonary diseases.
| SLC34A2 gene: | Encodes sodium-dependent phosphate cotransporter 2B protein |
| Alveolar microlithiasis: | Affects respiratory function due to accumulation of microliths in the alveoli |
| PubMed: | A scientific database containing articles on genetics, pulmonary diseases, and other related fields |
By utilizing the information available on PubMed, researchers and healthcare professionals can gain insights into the genetic factors contributing to pulmonary conditions and further study the SLC34A2 gene and its role in alveolar microlithiasis.
Catalog of Genes and Diseases from OMIM
The SLC34A2 gene is responsible for encoding the sodium-dependent phosphate cotransporter 2b protein. Mutations in this gene have been associated with a range of pulmonary conditions, including pulmonary alveolar microlithiasis.
OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and patients.
OMIM lists the SLC34A2 gene as associated with the following diseases:
- Pulmonary alveolar microlithiasis
- Other pulmonary conditions related to SLC34A2 gene changes
In addition to genetic testing and scientific articles, OMIM provides information on the clinical features, inheritance patterns, and other related genes for these diseases. The database also includes references to relevant articles and resources.
Patients and healthcare professionals can use this catalog to access the most up-to-date information on genetic conditions related to the SLC34A2 gene. It serves as a valuable tool for genetic counseling, diagnosis, and management of these conditions.
For more information on the SLC34A2 gene and pulmonary diseases associated with it, please refer to the OMIM catalog.
Gene and Variant Databases
The SLC34A2 gene is associated with various health conditions, including pulmonary alveolar microlithiasis. There are several resources available online that provide information about this gene and its variants.
Here are some useful databases and other resources:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the SLC34A2 gene and its variants.
- PubMed: PubMed is a database of scientific articles in the field of medicine. You can find research articles, reviews, and other references related to the SLC34A2 gene and its role in pulmonary alveolar microlithiasis.
- Genetic Testing Registry: This database provides information about genetic tests for various conditions, including those associated with the SLC34A2 gene.
- GeneReviews: GeneReviews is a resource for clinicians and researchers that provides in-depth reviews of genes and the associated diseases. It contains comprehensive information about the SLC34A2 gene and its role in pulmonary alveolar microlithiasis.
- Additional Genetic Databases: There are several other genetic databases that contain information about the SLC34A2 gene and its variants, such as the Human Gene Mutation Database (HGMD) and the ClinVar database.
These resources provide valuable information about the SLC34A2 gene and its variants, and can be helpful for researchers, healthcare professionals, and individuals interested in genetic testing and understanding pulmonary alveolar microlithiasis.
References
- Names and genes: SLC34A2 gene, sodium-dependent phosphate transport protein 2B.
- Pulmonary alveolar microlithiasis: genetic testing on SLC34A2 gene, genetic changes associated with the disease, information from the Online Mendelian Inheritance in Man (OMIM) database.
- Additional information on pulmonary alveolar microlithiasis: related articles in PubMed, genetic variants of the SLC34A2 gene.
- Cotransporter family: genetic testing on SLC34A2 gene, protein changes associated with the disease.
- Other genetic conditions affecting the pulmonary alveoli: genetic testing on SLC34A2 gene, information from genetic databases.
- Resources for genetic testing: pulmonary alveolar microlithiasis testing in the genetics resources directory, genetic testing information in the Genetic and Rare Diseases Information Center (GARD).
- Conditions listed in the Online Mendelian Inheritance in Man (OMIM) database: pulmonary alveolar microlithiasis, genetic testing information for related genes.
- Review articles on pulmonary alveolar microlithiasis: articles in the Respiratory Care journal, critical review articles on genetic testing.