Recently, mutations in the cyclin M2 (CNNM2) gene were identified to be causative for
severe hypomagnesemia. In kidney, CNNM2 is a basolaterally expressed protein with
predominant expression in the distal convoluted tubule. Transcellular magnesium (Mg 2+)
reabsorption in the distal convoluted tubule represents the final step before Mg 2+ is
excreted into the urine, thus fine-tuning its final excretion via a tightly regulated mechanism.
The present study aims to get insight in the structure of CNNM2 and to characterize its post …