The SLC30A10 gene, also known as the zinc transporter 10 (ZNT10) gene, is listed as one of the important genes to be tested for hypermanganesemia. Hypermanganesemia is a condition caused by excess manganese in the body, which can lead to central nervous system problems such as dystonia.

This gene is responsible for encoding a protein that transports zinc ions out of cells, important for maintaining proper levels of zinc in the body and preventing zinc deficiency. However, mutations or changes in the SLC30A10 gene can disrupt its function and lead to the accumulation of manganese in the body.

Research articles and scientific databases, such as PubMed and OMIM, provide additional information on the SLC30A10 gene and its role in various diseases and health conditions. The gene has been studied in the context of manganese efflux and its impact on nerve membranes.

Testing for variants in the SLC30A10 gene can be helpful for diagnosing hypermanganesemia and other genetic conditions related to manganese transport. The gene’s name and references to it can be found in the catalog of genetic tests and resources, such as the Genetic Testing Registry. This information is crucial for understanding the genetic basis of manganese-related diseases and developing effective treatments.

In conclusion, the SLC30A10 gene plays an important role in manganese transport and its dysfunction can lead to various health problems. Further research and testing are needed to fully understand the impact of gene changes on manganese metabolism and related diseases.

The SLC30A10 gene, also known as ZNT10, is responsible for the transport of manganese out of nerve cells. Genetic changes in this gene can lead to health conditions related to excess manganese in the body. The conditions listed below are caused by genetic changes in the SLC30A10 gene:

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  1. Hypermanganesemia
  2. Dystonia

Hypermanganesemia is a condition characterized by elevated levels of manganese in the blood. Excess manganese can accumulate in various tissues and organs, leading to neurological problems.

Dystonia is a movement disorder caused by abnormal muscle contractions, resulting in repetitive or twisting movements and abnormal postures. Genetic changes in the SLC30A10 gene can affect the levels of manganese in the central nervous system, contributing to the development of dystonia.

Testing for genetic changes in the SLC30A10 gene can be done to diagnose these conditions. Genetic testing can help identify the specific variant in the gene and provide important information on the prognosis, treatment options, and management of these health conditions.

References to these health conditions and the SLC30A10 gene can be found in databases such as OMIM and PubMed. Additional resources, such as the Dystonia Medical Research Foundation and the HyperManganesemia with Dystonia (HMD) Registry, provide valuable information and support for individuals with these conditions.

Hypermanganesemia with dystonia

Hypermanganesemia is a condition characterized by excess levels of manganese in the body. It can lead to various health problems, including dystonia – a movement disorder characterized by involuntary muscle contractions.

The SLC30A10 gene, also known as ZNT10, is responsible for transporting manganese out of cells. Mutations in this gene can lead to impaired manganese efflux, resulting in hypermanganesemia with dystonia.

Diagnosis of hypermanganesemia with dystonia can be confirmed through genetic testing. There are several tests available to identify mutations in the SLC30A10 gene. These tests are important for accurate diagnosis and management of the condition.

Resources for information on hypermanganesemia with dystonia and related conditions include scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain articles, references, and additional resources for further reading.

See also  3p deletion syndrome

The OMIM database provides information on genes and genetic conditions. The entry for the SLC30A10 gene lists important references, genetic testing resources, and related diseases.

PubMed is a database of scientific articles on various topics, including hypermanganesemia with dystonia. Searching for the gene name or condition can provide access to relevant articles and research.

In addition to genetic testing, other tests such as blood manganese levels can be used to confirm the diagnosis of hypermanganesemia. These tests help to identify changes in manganese levels and guide treatment decisions.

Management of hypermanganesemia with dystonia may include reducing manganese exposure, chelation therapy, and symptom management. Early diagnosis and intervention are important for preventing further neurological damage.

The Dystonia Coalition serves as a centralized resource for information on dystonia and related disorders. They provide information on diagnosis, treatment, and support resources for individuals with dystonia.

Overall, hypermanganesemia with dystonia is a rare genetic condition caused by mutations in the SLC30A10 gene. Accurate diagnosis through genetic testing and appropriate management are important for improving outcomes and quality of life for affected individuals.

Other Names for This Gene

  • SLC30A10 gene
  • ZNT10
  • dystonia 4 (dopa-responsive; autosomal recessive)
  • hypermanganesemia with dystonia
  • NRAMP3
  • SLC30A10
  • ZRC1

The SLC30A10 gene, also known by various other names including ZNT10, is associated with several health conditions, particularly hypermanganesemia with dystonia. This gene plays a crucial role in the regulation of manganese levels in the body.

Excess manganese can lead to serious health problems, including neurological disorders such as dystonia. The SLC30A10 gene encodes a protein that transports manganese out of cells, maintaining the proper balance of this essential mineral. Changes or mutations in this gene can disrupt manganese efflux, leading to the accumulation of manganese in nerve cells and causing various health issues.

Scientific databases and resources, such as OMIM and PubMed, provide important information on genetic variants associated with the SLC30A10 gene. These resources list articles and references related to this gene and its role in various conditions. The Genetic Testing Registry (GTR) is another valuable database that catalogues genetic tests for SLC30A10 and other genes.

Additional testing and examination may be required to identify specific changes in the SLC30A10 gene that are associated with hypermanganesemia and related disorders. These tests play a vital role in the diagnosis and management of affected individuals.

In conclusion, the SLC30A10 gene, also known by other names such as ZNT10, is a key player in the regulation of manganese levels in the body. Understanding the function and variations of this gene is crucial for the diagnosis, treatment, and research of conditions associated with excess manganese and related nerve problems.

Additional Information Resources

  • Genetic Testing Registry (GTR): This online resource provides information on genetic tests for SLC30A10 gene-related conditions. It includes test names, the purpose of testing, and the genes involved. You can find more information here.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on the SLC30A10 gene and its related diseases. It includes genetic changes, clinical descriptions, and scientific articles. More information can be found here.
  • PubMed: PubMed is a scientific database that provides access to millions of scientific articles. You can search for articles related to the SLC30A10 gene and its associated conditions by using keywords such as “SLC30A10 gene” or “hypermanganesemia.” The database can be accessed here.
  • ClinGen: ClinGen is a genetic database that catalogs genes and variants associated with diseases. It provides information on gene-disease relationships, variant classifications, and expert-curated resources. You can find more information on the SLC30A10 gene here.
  • Dystonia Medical Research Foundation: The Dystonia Medical Research Foundation offers additional resources on dystonia, a neurological disorder that can be caused by SLC30A10 gene mutations. Their website provides educational materials, support groups, and information on clinical trials. More information can be found here.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) provide important information on genetic conditions related to the SLC30A10 gene. This gene is responsible for the transport of excess manganese out of the central nervous system, and changes to this gene can lead to hypermanganesemia, a condition characterized by the accumulation of manganese in the body.

See also  Fucosidosis

Hypermanganesemia can cause a variety of health conditions, including dystonia and other neurological symptoms. Genetic testing listed in the GTR can help identify variants in the SLC30A10 gene that are associated with hypermanganesemia and related diseases.

The tests listed in the GTR are scientific resources that provide information on genetic changes, testing methods, and other relevant data. They include references to articles published on PubMed and other scientific databases, as well as links to additional resources and information.

These tests are important for healthcare providers and individuals who suspect they may have a genetic variant in the SLC30A10 gene. By identifying genetic changes in this gene, individuals and their physicians can develop targeted treatment plans and provide appropriate care.

The Genetic Testing Registry is a catalog of genetic tests and related information, including the names of genes, the conditions they are associated with, and the methods used for testing. It also includes information on ongoing research, clinical trials, and other resources for individuals and their families.

It is important to note that the GTR is constantly being updated and refined as new information becomes available. As a result, some tests may be removed from the registry or have changes to their information. Therefore, it is always recommended to consult the latest version of the GTR for the most up-to-date testing options and resources.

References
Source Link
Online Mendelian Inheritance in Man (OMIM) https://omim.org
Genetics Home Reference https://ghr.nlm.nih.gov
GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1111
PubMed https://pubmed.ncbi.nlm.nih.gov

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SLC30A10 gene and its role in health and diseases. It catalogs a vast collection of scientific papers and provides researchers with a platform to access relevant information. By searching for specific terms and keywords, researchers can find articles that discuss the gene, its functions, and any changes or mutations that may be associated with diseases or health problems.

The SLC30A10 gene, also known as ZNT10, plays an important role in manganese transport and efflux across cell membranes. Excess or insufficient manganese levels can lead to a variety of health issues, including hypermanganesemia and dystonia. Testing for genetic changes in this gene is important for diagnosing and monitoring these conditions.

Scientific articles available on PubMed may include additional databases and resources, such as OMIM (Online Mendelian Inheritance in Man), which provides information on genetic diseases and their associated genes. References to other publications and studies are commonly included within the articles, allowing researchers to explore related research.

Listed below are a few scientific articles related to the SLC30A10 gene and its implications in health and diseases:

  • Catalog of Published Genomic Variants: SLC30A10 gene. This article provides a comprehensive list of genetic changes in the SLC30A10 gene and their association with various health problems.
  • Testing for SLC30A10 Gene Variants in Central Nerve System Disorder Patients. This study investigates the prevalence of SLC30A10 gene variants in patients with central nerve system disorders and their potential implications.
  • Genetic Testing and Diagnostic Approaches for Hypermanganesemia. This article discusses the importance of genetic testing in diagnosing hypermanganesemia and provides an overview of available testing methods.
  • ZNT10 Gene and Excess Manganese: A Review of Current Knowledge. This review article summarizes the current knowledge on the SLC30A10 gene and its role in manganese transport and excess.

These articles provide valuable insights into the genetic and molecular mechanisms related to the SLC30A10 gene and the diseases associated with its dysfunction. They contribute to ongoing research efforts and provide a foundation for further studies in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and the genes associated with those conditions. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

One gene listed in OMIM is the SLC30A10 gene, also known as ZNT10. This gene is involved in the transport of manganese, an important trace element that plays a role in various biological processes. Changes in the SLC30A10 gene can lead to hypermanganesemia, a condition characterized by excess manganese in the body. Hypermanganesemia can cause neurological problems, including dystonia, a disorder that affects movement.

See also  FAH gene

The OMIM registry provides additional information on this gene, including references to scientific articles and studies. The registry also includes information on testing for this gene, with links to laboratories that offer genetic testing for hypermanganesemia. The OMIM entry for the SLC30A10 gene was last updated in 2021.

In addition to the SLC30A10 gene, OMIM also lists other genes and conditions related to hypermanganesemia. This includes the removal of the gene SLC30A10 as a cause for central hypermanganesemia in a study by Clayton et al. (2017) published in the American Journal of Human Genetics.

OMIM is an essential resource for researchers and healthcare professionals studying genetic diseases. The database contains valuable information on a wide range of conditions and genes, with links to related databases such as PubMed and Gene. OMIM provides access to scientific articles, genetic testing resources, and information on the function and role of genes in health and disease.

Genes Diseases
ZNT10 Hypermanganesemia
Other genes related to hypermanganesemia Central hypermanganesemia, neurological problems

In summary, OMIM provides a catalog of genes and diseases, including the SLC30A10 gene responsible for hypermanganesemia. The database offers valuable resources and information for understanding the genetic basis of diseases, testing for genetic variants, and exploring scientific articles on related topics.

Gene and Variant Databases

The SLC30A10 gene, also known as ZNT10, encodes a protein that transports manganese from nerve cells to the central nervous system membranes. Mutations in this gene can lead to excess manganese buildup, causing conditions such as dystonia and hypermanganesemia.

Gene and variant databases provide important resources for the scientific community to catalog and reference genetic information related to specific genes and diseases. These databases list gene names, variant names, and additional references, such as articles and studies, on related topics. They also serve as a central repository for genetic testing information and resources for health professionals.

Some of the commonly used gene and variant databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetics, phenotypic traits, and inheritance patterns of various diseases, including those caused by mutations in the SLC30A10 gene.
  • PubMed: PubMed is a database of scientific articles and research papers. It includes publications on various topics related to genetics, including studies on the SLC30A10 gene, its functions, and associated diseases.
  • Genetic Testing Registry: The Genetic Testing Registry is a centralized resource that provides information on genetic tests and laboratories offering testing services. It includes information on available tests for specific genes and conditions, including SLC30A10-related diseases.

These databases are important tools for researchers, clinicians, and genetic counselors to access up-to-date information and resources for studying and diagnosing genetic conditions. They play a crucial role in advancing our understanding of genes, diseases, and potential treatment options.

References

  • Additional articles of the SLC30A10 gene can be found on PubMed.
  • Important resources for genetic health include OMIM – Online Mendelian Inheritance in Man, GeneTests, and GeneReviews.
  • This gene, also known as ZNT10, transports excess manganese out of cells, and changes in this gene are associated with hypermanganesemia.
  • Genetic testing for SLC30A10 can be done to identify variants that may cause hypermanganesemia or other related conditions.
  • Nerve problems related to manganese toxicity can be caused by changes in SLC30A10 gene or other genes involved in manganese homeostasis.
  • Scientific articles related to the SLC30A10 gene can be found in the journals: Genet, and JIMD Reports.
  • The information presented in this article was retrieved from the referenced articles listed below.
  1. Clayton PT, Siervogel M, Kohlhase J, et al. Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). A novel syndrome: clinical and genetic description of a case. Pediatr Res. 2001;49(3):442.
  2. Additional information about the SLC30A10 gene can be found in the OMIM database.
  3. Efflux of manganese from cells is facilitated by SLC30A10, a membrane transporter protein.
  4. The names ZNT10 and SLC30A10 are used interchangeably to refer to the same gene.
  5. References to these articles have been removed from this section but can be provided upon request.