Ontology highlight
ABSTRACT:
SUBMITTER: Walder RY
PROVIDER: S-EPMC2766295 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Walder Roxanne Y RY Yang Baoli B Stokes John B JB Kirby Patricia A PA Cao Xiao X Shi Peijun P Searby Charles C CC Husted Russell F RF Sheffield Val C VC
Human molecular genetics 20090818 22
The syndrome of hypomagnesemia with secondary hypocalcemia is caused by defective TRPM6. This protein is an ion channel that also contains a kinase in its C-terminus. It is usually diagnosed in childhood and, without treatment with supplemental Mg, affected children suffer from mental retardation, seizures and retarded development. We developed a mouse lacking Trpm6 in order to understand in greater detail the function of this protein. In contrast to our expectations, Trpm6(-/-) mice almost neve ...[more]