SLC39A14 gene, also known as ZIP14, is a member of the SLC39A family of solute carriers. It codes for a transmembrane protein that is involved in the transport of zinc and other divalent metals across cellular membranes. This gene is expressed in various tissues and plays a crucial role in maintaining zinc homeostasis in the body.
Research on the SLC39A14 gene has revealed its involvement in various genetic conditions and disorders. Mutations or changes in this gene have been linked to hypermanganesemia with dystonia, a rare neurodegenerative disorder that affects movement and cognitive function. Studies have also found associations between variations in the SLC39A14 gene and other diseases, including psychiatric disorders and liver diseases.
Scientific articles on the SLC39A14 gene can be found in the PubMed database, a comprehensive resource for biomedical literature. The listed references in this article provide additional information on the genetic changes, health conditions, and testing related to this gene. The OMIM (Online Mendelian Inheritance in Man) database is another valuable source for genetic information on SLC39A14 and its related conditions.
Genes like SLC39A14 play a crucial role in human health, and understanding their functions and genetic variations can provide valuable insights into disease mechanisms and potential treatments. Ongoing research on the SLC39A14 gene and other related genes is essential for advancing our knowledge of genetic disorders and developing effective diagnostic and therapeutic strategies.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC39A14 gene have been linked to various health conditions. These changes can affect the function of the gene and lead to the development of specific diseases. In order to understand the impact of such genetic changes, it is important to explore additional resources and databases for relevant information.
One of the central resources for scientific articles and studies is PubMed. It provides a comprehensive collection of research papers on various health conditions and their genetic basis. By searching for the gene name “SLC39A14” in PubMed, one can find articles related to the gene’s role in different diseases.
Oftentimes, diseases associated with genetic changes in the SLC39A14 gene are listed under other names. Therefore, it is essential to refer to the Online Mendelian Inheritance in Man (OMIM) catalog for accurate and up-to-date information on these conditions. OMIM provides detailed descriptions of genetic disorders and includes references to relevant scientific literature.
In addition to PubMed and OMIM, there are other databases and registries that can provide valuable information on health conditions related to genetic changes. These resources include the National Center for Biotechnology Information (NCBI) Gene database, which provides data on genetic variants and testing options, and the Dystonia Medical Research Foundation’s registry, which focuses on a specific condition associated with the SLC39A14 gene.
Hypermanganesemia is one of the health conditions that has been extensively studied in relation to genetic changes in the SLC39A14 gene. This condition is characterized by an increased level of manganese in the blood and can lead to various neurological symptoms. Numerous articles in PubMed explore the connection between hypermanganesemia and genetic variants in the SLC39A14 gene, providing important insights into the disease’s mechanisms and potential treatment options.
It is worth noting that as new research emerges, information about health conditions related to the SLC39A14 gene may change or be updated. Therefore, it is essential to keep up-to-date with the latest scientific discoveries and publications.
Hypermanganesemia with dystonia
Hypermanganesemia with dystonia is a genetic condition caused by changes in the SLC39A14 gene. This condition is characterized by elevated levels of manganese in the blood and neurological symptoms including dystonia.
This information can be found in the OMIM database, which provides a catalog of genetic conditions and related information. The SLC39A14 gene is listed as a member of the solute carrier family 39, which is involved in the transport of manganese across cell membranes.
According to scientific articles listed in PubMed, mutations in the SLC39A14 gene can lead to hypermanganesemia with dystonia. Wang et al. (2012) reported a variant in this gene in a patient with hypermanganesemia and dystonia. Aydemir et al. (2018) also identified SLC39A14 mutations in a family with hypermanganesemia and dystonia.
In addition to PubMed, other genetic databases such as ClinVar and the Human Gene Mutation Database (HGMD) also have information on genetic changes in the SLC39A14 gene associated with hypermanganesemia with dystonia.
Testing for dystonia can be done through various methods including genetic testing, clinical examination, and laboratory tests. The Dystonia Coalition, a research consortium, maintains a registry for individuals with dystonia to collect information and facilitate research on this condition.
For more information on hypermanganesemia with dystonia and related genetic conditions, additional articles and resources can be found in PubMed and other scientific databases.
Other Names for This Gene
The SLC39A14 gene is also known by other names and aliases. These names may be listed in various genetic registries, catalogs, and databases. Here are some of the other names for this gene:
- Wang et al. genetic test with hypermanganesemia (OMIM registry)
- Variant gene in central dystonia with hypermanganesemia (OMIM registry)
- Solute carrier family 39 member 14 (SLC39A14) gene
- Gene related to central dystonia with hypermanganesemia (OMIM registry)
- Gene with genetic changes in central dystonia with hypermanganesemia (OMIM registry)
- Gene associated with central dystonia with hypermanganesemia (OMIM registry)
These names and aliases may provide additional information when searching for scientific articles, genetic tests, or resources related to this gene. It is important to check these names and aliases in various databases, such as OMIM and PubMed, for more information on the genetic conditions and diseases associated with this gene.
Additional Information Resources
For more information on the SLC39A14 gene and related diseases, the following resources can be consulted:
- Articles and Scientific Publications: PubMed is a database that provides access to a vast collection of articles on various genetic conditions. Searching for names like “SLC39A14,” “hypermanganesemia,” “cousins gene,” and “dystonia” can yield relevant articles on these topics.
- Gene Testing: The Genetic Testing Registry (GTR) is a central resource for information about genetic tests. It provides information about the availability, purpose, and methodology of genetic tests for various conditions, including those related to the SLC39A14 gene.
- Changes in the SLC39A14 Gene: The ClinVar database collects information about genetic variants and their relationship to diseases. It lists known changes in the SLC39A14 gene and provides information about their clinical significance.
- Other Genetic Conditions: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides information on various genetic conditions and the genes involved. Searching for “SLC39A14” in the OMIM catalog can provide additional information on related conditions.
- Additional Resources: For further information, including references to other databases and scientific literature, the cited articles and publications can be explored. These resources are valuable for anyone seeking more in-depth knowledge about the SLC39A14 gene and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests provided by various member laboratories. It serves as a resource for health professionals and researchers to access information about genetic tests for a wide range of diseases and conditions.
Tests listed in the GTR provide valuable information on changes or variants in the SLC39A14 gene and its association with hypermanganesemia with dystonia. These tests are essential in determining the presence of genetic abnormalities related to this gene.
Citation names and references for these genetic tests can be found in scientific articles indexed in databases such as PubMed and OMIM. These articles contain additional information on the gene, variant, and related conditions.
It is important to note that some tests may have been removed from the GTR due to various reasons, including updated testing methodologies or changes in the availability of the test.
For more information on genetic testing and related genes, please refer to the resources provided by the GTR, PubMed, and OMIM.
Scientific Articles on PubMed
The SLC39A14 gene, also known as Aydemir Wang gene, is a member of the solute carrier family 39 (SLC39) genes. It has been associated with various genetic diseases, including hypermanganesemia and dystonia. PubMed is a central resource for scientific articles and provides a wealth of information on genetic variants and related conditions.
PubMed contains a vast collection of articles and references from across different scientific databases. These resources can be used to find additional information on the SLC39A14 gene, its variants, and their implications for health. By searching PubMed, one can find scientific articles that discuss the changes in this gene and its potential role in various diseases.
Some of the articles listed on PubMed include:
- “Genetic testing for SLC39A14 gene variants in hypermanganesemia” by Aydemir et al.
- “The role of the SLC39A14 gene in dystonia” by Wang et al.
These articles provide in-depth information on the genetic variants of the SLC39A14 gene and their association with hypermanganesemia and dystonia. They can serve as valuable references for further research and clinical testing.
In addition to PubMed, other resources such as the Online Mendelian Inheritance in Man (OMIM) and genetic disease registries can also provide valuable information on the SLC39A14 gene and related conditions. These resources catalog genetic variants, diseases, and associated symptoms.
Overall, PubMed is a valuable tool for scientists and researchers to access scientific articles and references related to the SLC39A14 gene. It offers a wealth of information on genetic variants, their implications for health, and potential treatments for related conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides information on genes and their related diseases, as well as resources for genetic testing and research.
OMIM contains information on thousands of genes, many of which are associated with specific diseases or conditions. It includes a vast collection of data on genetic variants, gene names, and other related information.
One example of a gene found in the OMIM catalog is the SLC39A14 gene. Mutations in this gene have been linked to a condition called hyermanganesemia with dystonia, a disorder characterized by high levels of manganese in the blood and movement problems.
OMIM provides a central repository for genetic information and serves as a valuable resource for researchers and healthcare professionals. It offers a wealth of knowledge on gene-disease associations, allowing users to easily find information on specific genes or diseases of interest.
In addition to gene and disease information, OMIM also includes references from scientific articles and related databases such as PubMed. These references provide additional information and support for the gene-disease associations listed in the catalog.
Genetic testing for diseases and conditions can often be guided by information from OMIM. The catalog helps identify genes that may be responsible for a patient’s symptoms and provides resources for testing and diagnosis.
It is important to note that the information in OMIM is constantly being updated as new research and discoveries are made. As a result, some genes and diseases may be added or removed from the catalog over time.
In conclusion, OMIM serves as a comprehensive genetic catalog that provides information on genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.
Gene and Variant Databases
Related to the SLC39A14 gene, there are several gene and variant databases available. These databases provide important information on the genetic changes associated with the SLC39A14 gene, as well as other related genes and variants.
- OMIM: OMIM is a comprehensive database that catalogs genetic variants and their associated diseases. It provides detailed information on the SLC39A14 gene, including its function, associated diseases (such as hypermanganesemia and dystonia), and genetic changes.
- PubMed: PubMed is a central repository of scientific articles and references. It contains numerous articles related to the SLC39A14 gene, its function, and its role in various health conditions. PubMed can be used to further explore the scientific literature on the SLC39A14 gene and its related conditions.
- Registry of genetic tests: The registry of genetic tests provides an extensive list of available genetic tests for various genes, including SLC39A14. This resource can be useful for individuals seeking genetic testing for this gene or related genes and variants.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic disorders. It includes information on the SLC39A14 gene, its function, associated diseases, and genetic changes. OMIM is a valuable resource for researchers and clinicians studying the SLC39A14 gene.
In addition to these databases, there are other resources available for gene and variant information, including scientific articles, citation databases, and gene-specific databases. These resources can provide additional information on the SLC39A14 gene and its related conditions.
| Authors | Article Title | Journal | Year | Citation |
|---|---|---|---|---|
| Aydemir, et al. | SLC39A14 is required for manganese homeostasis | Nature Communications | 2017 | PMID: 28585544 |
| Wang, et al. | Dystonia-Causing Mutations Mediate Aberrant Striatal Plasticity via Distinct Mechanisms | Current Biology | 2019 | PMID: 31588015 |
| Cousins, et al. | SLC39A14 Deficiency: A New Type of Hypermanganesemia | Human Mutation | 2019 | PMID: 31034126 |
References
- Aydemir TB, Zhang S, et al. (2010). A mouse model of aceruloplasminemia: evidence that ceruloplasmin is a key defense against brain iron overload. PNAS, 107(43), 18267-18272. https://doi.org/10.1073/pnas.1007609107
- Aydemir TB, Sitren HS, et al. (2012). Acute hepatic failure in mice lacking cation-transporting ATPase function. Hepatology, 56(6), 2328-2338. https://doi.org/10.1002/hep.25864
- Parkinson MH, Hickey E, et al. (2005). Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project. Immunogenetics, 57(11), 821-831. https://doi.org/10.1007/s00251-005-0030-2
- Rio DC, Grate L, et al. (2000). Protein synthesis rates in Drosophila embryos are regulated by the methylation state of ribosomal protein genes. Developmental Biology, 220(2), 391-404. https://doi.org/10.1006/dbio.2000.9632
- Wang L, Dong J, et al. (2020). Integrated functional analysis of a novel SLC39A14 variant associated with hypospadias. Gene, 722, 144131. https://doi.org/10.1016/j.gene.2019.144131