Schlingmann, Karl P. and Weber, Stefanie and Peters, Melanie and Niemann Nejsum, Lene and Vitzthum, Helga and Klingel, Karin and Kratz, Markus and Haddad, Elie and Ristoff, Ellinor and Dinour, Dganit and Syrrou, Maria and Nielsen, Soren and Sassen, Martin and Waldegger, Siegfried and Seyberth, Hannsjörg W. and Konrad, Martin (2002) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. NATURE GENETICS, 31 (2). pp. 166-170. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)Abstract
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)(1,2), previously mapped to chromosome 9q22 (ref. 3). The TRPM6 protein is a new member of the long transient receptor potential channel (TRPM) family 4 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(5-7). 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MAGNESIUM; EXPRESSION; PROTEIN; CHANNELS; KINASE; PARACELLIN-1; ABSORPTION; RESORPTION; TRANSPORT; CDNA; |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Physiologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 25 Oct 2021 14:19 |
| Last Modified: | 25 Oct 2021 14:19 |
| URI: | https://pred.uni-regensburg.de/id/eprint/40212 |
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