TRPM6


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TRPM6

A gene on chromosome 9q21.13 that encodes an essential ion channel and serine/threonine-protein kinase, which is required for magnesium homeostasis—both for epithelial magnesium transport and in the active magnesium absorption in the GI tract and re-absorption in the kidney.
References in periodicals archive ?
Verkaart et al., "Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy," Proceedings of the National Academy of Sciences of the United States of America, vol.
van der Wijst et al., "Methionine sulfoxide reductase B1 (MsrB1) recovers TRPM6 channel activity during oxidative stress," The Journal of Biological Chemistry, vol.
This mutation led to a truncated TRPM6 protein causing a complete loss of function.
Active transport of [Mg.sup.2+] via TRPM6 channels situated within the apical membrane of enterocytes prevails when the intestinal [Mg.sup.2+] concentration is low (18).
To the best of our knowledge, to date, fewer than 80 cases with TRPM6 gene mutation and 48 different mutations have been reported worldwide (7,8,9,10,11,12,13,14,15,16, 17,19).
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
Clinical and molecular characterization of Turkish patients with familial hypomagnesemia: novel mutations in TRPM6 and CLDN16 genes.
En el tubulo distal, el magnesio es reabsorbido a traves de un mecanismo activo, que involucra el canal de magnesio TRPM6 (8).
La acidosis metabolica cronica disminuye la expresion del canal de magnesio TRPM6 en el tubulo distal, disminuyendo la reabsorcion de magnesio a ese nivel.
Recientemente, mutaciones en el gen TRPM6, que expresa el canal de magnesio TRPM6, han sido identificadas como el desorden genetico subyacente (8).
Recientemente, algunos estudios apuntan a que la perdida de magnesio se deberia a la disminucion en la expresion del canal de magnesio TRPM6 en el tubulo distal (17).
Consecuentemente, la entrada de potasio a la celula se reduce, despolarizando a la celula y cerrando el canal de magnesio TRPM6, produciendo perdida urinaria de magnesio (21).