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TRPM6 gene

transient receptor potential cation channel subfamily M member 6
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Normal Function

The TRPM6 gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass through cells. Magnesium is involved in many cell processes, including production of cellular energy, maintenance of DNA building blocks (nucleotides), protein production, and cell growth and death. Additionally, Mg2+ is needed for the production of a substance called parathyroid hormone that regulates blood calcium levels. Magnesium and calcium are also required for the normal functioning of nerve cells that control muscle movement (motor neurons).

The TRPM6 channel is embedded in the membrane of epithelial cells that line the large intestine, structures in the kidneys known as distal convoluted tubules, the lungs, and the testes in males. When the body needs additional Mg2+, the TRPM6 channel allows it to be absorbed in the intestine and filtered from the fluids that pass through the kidneys by the distal convoluted tubules. When the body has sufficient or too much Mg2+, the TRPM6 channel does not filter out the Mg2+ from fluids but allows the ion to be released from the kidney cells into the urine. The channel also helps to regulate Ca2+, but to a lesser degree.

Health Conditions Related to Genetic Changes

Hypomagnesemia with secondary hypocalcemia

At least 38 mutations in the TRPM6 gene have been found to cause hypomagnesemia with secondary hypocalcemia. This condition is characterized by low levels of magnesium (hypomagnesemia) and calcium (hypocalcemia) in the body, which leads to neurological problems that begin in infancy, including muscle spasms and seizures. TRPM6 gene mutations result in a lack of functional protein.

Nonfunctional TRPM6 channels prevent Mg2+ absorption in the intestine and cause too much Mg2+ to be released in the urine. A lack of Mg2+ in the blood impairs the production of parathyroid hormone, which likely reduces blood Ca2+ levels. Additionally, hypomagnesemia and hypocalcemia can disrupt many cell processes and impair the function of motor neurons, leading to neurological problems and movement disorders characteristic of this condition. If the condition is not effectively treated and low Mg2+ levels persist, signs and symptoms can worsen over time and may lead to early death.

More About This Health Condition

Other Names for This Gene

  • CHAK2
  • channel kinase 2
  • FLJ22628
  • HMGX
  • melastatin-related TRP cation channel 6
  • transient receptor potential cation channel, subfamily M, member 6

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Research Resources

References

  • Chubanov V, Gudermann T. TRPM6. Handb Exp Pharmacol. 2014;222:503-20. doi: 10.1007/978-3-642-54215-2_20. Review. Citation on PubMed
  • Konrad M, Schlingmann KP, Gudermann T. Insights into the molecular nature of magnesium homeostasis. Am J Physiol Renal Physiol. 2004 Apr;286(4):F599-605. Review. Citation on PubMed
  • Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. Eur J Hum Genet. 2014 Apr;22(4):497-504. doi: 10.1038/ejhg.2013.178. Epub 2013 Aug 14. Citation on PubMed or Free article on PubMed Central
  • van der Wijst J, Bindels RJ, Hoenderop JG. Mg2+ homeostasis: the balancing act of TRPM6. Curr Opin Nephrol Hypertens. 2014 Jul;23(4):361-9. doi: 10.1097/01.mnh.0000447023.59346.ab. Review. Citation on PubMed
  • Voets T, Nilius B, Hoefs S, van der Kemp AW, Droogmans G, Bindels RJ, Hoenderop JG. TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption. J Biol Chem. 2004 Jan 2;279(1):19-25. Epub 2003 Oct 23. Citation on PubMed
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