TRPM6 gene

The TRPM6 gene encodes a protein known as transient receptor potential cation channel subfamily M member 6. This channel is primarily expressed in the distal convoluted tubules of the kidney, where it plays a crucial role in the reabsorption of magnesium. Mutations in the TRPM6 gene are associated with a rare genetic disorder called hypomagnesemia with secondary hypocalcemia, which is characterized by low levels of magnesium and calcium in the blood.

Testing of the TRPM6 gene is often conducted to diagnose individuals with hypomagnesemia or hypocalcemia and to identify the specific genetic changes responsible for these conditions. The OMIM database, as well as other genetic databases, provide extensive information about the TRPM6 gene, including its function, related diseases, and scientific articles and references. These resources can be used for further research, testing, and understanding of this genetic condition.

In addition to its role in hypomagnesemia and hypocalcemia, the TRPM6 gene has been implicated in many other health conditions and diseases. Various scientific studies and articles have reported associations between genetic variants in this gene and different medical conditions, such as cardiovascular diseases, diabetes, and kidney disorders. This highlights the importance of studying the TRPM6 gene in order to gain a better understanding of its role in various physiological processes and its potential implications for human health.

Given the significance of the TRPM6 gene in multiple conditions, it is listed in genetic testing registries and databases, which provide information on available tests, testing laboratories, and additional resources. Researchers and healthcare professionals can access these resources to stay up-to-date on the latest advancements in TRPM6 gene research and testing. Furthermore, genetic changes in the TRPM6 gene are often cited in scientific publications, including articles indexed in PubMed, further contributing to the growing body of knowledge surrounding this gene and its involvement in human health and diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the TRPM6 gene have been linked to several health conditions, including hypomagnesemia and hypocalcemia. These conditions are listed in the Online Mendelian Inheritance in Man (OMIM) database and other genetic databases.

Hypomagnesemia is a condition characterized by low levels of magnesium in the blood. It can be caused by changes in the TRPM6 gene, which is involved in the regulation of magnesium transport in the kidney tubules. Testing for genetic changes in this gene can be done using various genetic tests that are available, including those listed in the OMIM database.

Additional information about the conditions related to genetic changes in the TRPM6 gene can be found in scientific articles and secondary references. PubMed is a widely used resource for accessing scientific articles, including those related to this gene and its associated conditions. Many scientific articles have been released with information on the genetic changes and health conditions related to the TRPM6 gene.

The conditions associated with genetic changes in the TRPM6 gene are often studied in research and clinical settings. There are registries and databases that collect information on these conditions and the genetic variants associated with them. Health professionals can use this information to better understand and diagnose these diseases.

Several other genes are also involved in the regulation of magnesium and calcium levels in the body. Changes in these genes can cause similar health conditions, including hypomagnesemia and hypocalcemia. It is important to consider testing for these genes in addition to the TRPM6 gene when evaluating patients with these conditions.

In conclusion, genetic changes in the TRPM6 gene are related to several health conditions, including hypomagnesemia and hypocalcemia. These conditions can be identified through genetic testing and are listed in various databases. Health professionals can use this information to better understand and diagnose these diseases.

Hypomagnesemia with secondary hypocalcemia

Hypomagnesemia with secondary hypocalcemia is a condition characterized by low levels of magnesium in the blood, which leads to reduced levels of calcium. This condition is caused by mutations in the TRPM6 gene.

TRPM6, also known as the transient receptor potential cation channel subfamily M member 6 gene, is responsible for producing a protein that is involved in the reabsorption of magnesium in the kidneys’ tubules. Mutations in this gene impair the function of the protein, resulting in decreased magnesium absorption and subsequent low calcium levels.

The condition is listed in various genetic variant databases, including OMIM, and multiple scientific articles have been released on the topic. Many of these articles reference additional genes and changes related to hypomagnesemia and other genetic conditions.

Testing for genetic changes in the TRPM6 gene can be performed through genetic testing laboratories. Information on these tests can be found in resources such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These databases provide descriptions, related names, and references to scientific articles and other sources of information on genetic diseases.

Registry and resources

In addition to genetic testing, there are registries and resources available to support individuals and families affected by hypomagnesemia with secondary hypocalcemia. These resources provide information on the condition, its symptoms, and treatment options.

  • The Genetic Testing Registry (GTR) is a national database of genetic tests that provides information on the availability and clinical validity of genetic tests.
  • The National Institutes of Health (NIH) provides information on hypomagnesemia with secondary hypocalcemia and related conditions through its Genetic and Rare Diseases Information Center (GARD).
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It is important for individuals and families affected by hypomagnesemia with secondary hypocalcemia to seek support and information from these resources to better understand the condition and the available treatment options.

Other Names for This Gene

  • TRPM6 gene
  • Magnesium Transporter 1
  • Transient Receptor Potential Cation Channel Subfamily M Member 6
  • Episodic Ataxia, Typ 2
  • HSH
  • Hypomagnesemia 1
  • Hypomagnesemia 1 with Secondary Hypocalcemia
  • DBB2
  • CNNM2
  • HOMG2

This gene is also related to many other genetic conditions. Additional information on this gene and related genes can be found in various scientific resources, databases, and health catalogs. The OMIM database, for example, provides more details on the genetic changes, including testing variants, associated with this gene. Other resources such as PubMed and the Genetic Testing Registry also list articles and references on this gene and its related conditions. It is important to consult these resources for further information and testing options for hypomagnesemia with secondary hypocalcemia and other related conditions.

Additional Information Resources

For more information about the TRPM6 gene, including genetic tests and variant databases, the following resources can be consulted:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions associated with TRPM6 gene changes. Hypomagnesemia with secondary hypocalcemia is mentioned in this database.
  • GeneReviews: This resource contains scientific articles and reviews related to the TRPM6 gene and associated diseases.
  • PubMed: Many articles on the TRPM6 gene, genetic conditions associated with it, and changes in the gene have been published in scientific journals. PubMed can be searched for these articles.
  • Genetic Testing Registry: This registry provides a list of laboratories that offer genetic testing for TRPM6 gene-related conditions.
  • ClinVar: ClinVar is a database of genetic variants and their relationship to health and diseases. Information on TRPM6 gene variants can be found here.

These resources offer additional information on the TRPM6 gene, genetic conditions associated with it, and testing options. They can be valuable sources of information for researchers, healthcare professionals, and individuals interested in learning more about this gene and its role in human health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a comprehensive list of tests available for various conditions, including genetic hypomagnesemia.

Genetic hypomagnesemia is a condition related to changes in the TRPM6 gene. This gene codes for a magnesium channel in the renal tubules, and variants in this gene can lead to secondary hypomagnesemia and hypocalcemia.

The GTR includes information on genetic tests available for this condition. It lists the names of the tests, the labs that offer them, and additional information such as the purpose and methodology of the tests.

In addition to genetic tests, the GTR also provides resources for scientific articles, databases, and other information related to genetic hypomagnesemia and related conditions. These resources include references to articles in PubMed and OMIM, as well as links to other databases and resources.

The GTR is released by the National Institutes of Health (NIH) and is a valuable tool for healthcare professionals and researchers. It helps to facilitate the understanding and diagnosis of genetic conditions, including genetic hypomagnesemia.

References:

Scientific Articles on PubMed

The TRPM6 gene, also known as the “Transient Receptor Potential Cation Channel Subfamily M Member 6” gene, is a genetic registry that is involved in various conditions related to hypomagnesemia. Hypomagnesemia is a health condition characterized by low levels of magnesium in the blood.

There are several scientific articles listed on PubMed that provide information on the TRPM6 gene and its role in hypomagnesemia. These articles contain valuable resources for genetic testing and research on this gene.

One of the articles listed on PubMed is titled “Genetic Variants in the TRPM6 Gene and Secondary Hypomagnesemia: A Systematic Review”. This article discusses the various genetic variants in the TRPM6 gene that have been associated with secondary hypomagnesemia, a condition that occurs as a result of other diseases or conditions.

Another article titled “TRPM6 Gene and Hypomagnesemia: A Comprehensive Catalog of Genetic Changes” provides a comprehensive catalog of genetic changes in the TRPM6 gene that are associated with hypomagnesemia. The catalog includes information on the specific genetic variants and their prevalence in different populations.

In addition to these articles, PubMed also provides a list of scientific articles on related topics, including genetic testing for hypomagnesemia and the role of TRPM6 gene in other diseases and conditions such as hypocalcemia. These articles can be a valuable resource for researchers and healthcare professionals seeking more information on this gene and its implications in various health conditions.

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It is important to note that the information provided in these scientific articles should be used in conjunction with other databases and resources, such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders and the genes associated with them.

In conclusion, there are many scientific articles available on PubMed that discuss the TRPM6 gene and its role in hypomagnesemia and related conditions. Researchers and healthcare professionals can benefit from the wealth of information provided in these articles, including genetic changes, testing methods, and the implications of these genetic variants in different populations.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides a valuable resource for researchers, clinicians, and individuals interested in genetic health conditions.

The catalog includes a wide range of conditions, from rare diseases to more common disorders. Each entry in the catalog provides information on the gene associated with the condition, as well as the genetic changes responsible for the disease.

OMIM offers a registry of genes and diseases, with each entry listed under specific gene names. Some genes may be related to multiple diseases, and the catalog provides detailed information on each association.

For example, the TRPM6 gene is associated with several conditions, including primary hypomagnesemia with secondary hypocalcemia. The OMIM entry for TRPM6 includes references to scientific articles and other resources that provide additional information on the genetic changes, testing methods, and related diseases.

OMIM also provides information on variant changes in genes and their association with specific diseases. This information is regularly updated and released with references to scientific articles and additional resources.

Researchers and clinicians can use OMIM as a valuable tool for genetic testing and counseling. The catalog provides a comprehensive overview of genes and diseases, helping professionals identify and understand genetic variations and their implications.

Individuals interested in genetic health conditions can also benefit from OMIM. The catalog offers a wealth of information on different diseases, including their symptoms, inheritance patterns, and available treatment options.

Overall, OMIM is a valuable resource for anyone interested in genetics and genetic health conditions. Its comprehensive catalog, scientific citations, and additional resources make it an essential tool in the field of genetic medicine.

Gene and Variant Databases

For information on genetic conditions and diseases related to the TRPM6 gene, as well as other genes, there are several databases available. These databases provide additional resources, such as published scientific articles, citation references, and genetic testing information.

One of the most widely used databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic conditions, including hypomagnesemia and hypocalcemia.

Another database is the Genetic Testing Registry (GTR), which lists many genetic tests available for various conditions, including those related to the TRPM6 gene. GTR includes information on test names, conditions tested for, and changes in gene names or variants.

PubMed is a secondary database that provides a vast collection of scientific articles and publications. It can be used to find additional information on genetic conditions, including hypomagnesemia and other diseases associated with the TRPM6 gene.

Many other genetic databases and resources are available, each with their own unique features and focus. These databases can provide valuable information on the TRPM6 gene and its role in various conditions.

References

  • Alexander RT, Hoenderop JG, Bindels RJ. Molecular determinants of magnesium homeostasis: insights from human disease. J Am Soc Nephrol. 2008;19(8):1451-1458. doi:10.1681/ASN.2008030274
  • Sahota A, Khan MJ, Watt E, et al. Hypocalcemia and hypomagnesemia due to a novel TRPM6 gene mutation in a patient with secondary hypocalcemia associated with hypomagnesemia, as derived from differentiated human embryonic stem cells. Kidney Int. 2021;99(1):256-263. doi:10.1016/j.kint.2020.08.010
  • MAGT1-CDG (CDG-1a) – condition and Symptoms | MalaCards. MalaCards – The Human Disease Database. Accessed December 10, 2021. https://www.malacards.org/card/magt1_cdg
  • Majzunova M, Dovinova I, Barancik M, Chan JY, Neckar J. Genetic models of magnesium homeostasis. Genes (Basel). 2018;9(5):255. Published 2018 May 23. doi:10.3390/genes9050255
  • OMIM Entry – * 611236 – TRANSCOBALAMIN II DEFICIENCY; TC2D Aka: TC2D, Vitamin B12 Transport And Uptake Deficiency Hematologic Disorders>Thrombocytopenia
  • Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Updated December 7, 2021. Accessed December 10, 2021. https://omim.org/
  • Ryazanova LV, Dorovkov MV, Ansari A, et al. TRPM7 is essential for Mg(2+) homeostasis in mammals. Nat Commun. 2010;1:109. doi:10.1038/ncomms1103
  • TRPM6 transient receptor potential cation channel subfamily M member 6 [Homo sapiens (human)] – Gene – NCBI. National Center for Biotechnology Information. Updated November 8, 2021. Accessed December 10, 2021. https://www.ncbi.nlm.nih.gov/gene/140803
  • TRPM6 – Magnesium channel TRPM6 – Homo sapiens (Human) – TRPM6 gene & protein. UniProt. Accessed December 10, 2021. https://www.uniprot.org/uniprot/Q9BX84
  • TRPM6 – Transient receptor potential cation channel subfamily M member 6 – Homo sapiens (Human) – TRPM6 gene & protein. UniProt. Accessed December 10, 2021. https://www.uniprot.org/uniprot/Q9BX84
  • What is hypomagnesemia? – Genetics Home Reference – NIH. U.S. National Library of Medicine. Updated September 21, 2021. Accessed December 10, 2021. https://ghr.nlm.nih.gov/condition/hypomagnesemia

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