Hypomagnesemia with secondary hypocalcemia is caused by mutations in TPRM6, a new member of the TPRM gene family

Karl P. Schlingmann, Stefanie Weber, Melanie Peters, Lene Niemann Nejsum, Helga Vitzthum, Karin Klingel, Markus Kratz, Elie Haddad, Ellinor Ristoff, Dganit Dinour, Maria Syrrou, Søren Nielsen, Martin Sassen, Siegfried Waldegger, Hannsjörg W. Seyberth, Martin Konrad

Research output: Contribution to journalArticlepeer-review


Magnesium is an essential ion involved in many biochemical and physiological processes. Homeostasis of magnesium levels is tightly regulated and depends on the balance between intestinal absorption and renal excretion. However, little is known about specific proteins mediating transepithelial magnesium transport. Using a positional candidate gene approach, we identified mutations in TRPM6 (also known as CHAK2), encoding TRPM6, in autosomal-recessive hypomagnesemia with secondary hypocalcemia (HSH, OMIM 602014), previously mapped to chromosome 9q22 (ref. 3). The TRPM6 protein is a new member of the long transient receptor potential channel (TRPM) family and is highly similar to TRPM7 (also known as TRP-PLIK), a bifunctional protein that combines calcium- and magnesium-permeable cation channel properties with protein kinase activity. TRPM6 is expressed in intestinal epithelia and kidney tubules. These findings indicate that TRPM6 is crucial for magnesium homeostasis and implicate a TRPM family member in human disease.

Original languageEnglish
Pages (from-to)166-170
Number of pages5
JournalNature Genetics
Issue number2
StatePublished - Jun 2002
Externally publishedYes


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