Human Calmodulin Mutations.

ABSTRACT: Fluxes of calcium (Ca²⁺) across cell membranes enable fast cellular responses. Calmodulin (CaM) senses local changes in Ca²⁺ concentration and relays the information to numerous interaction partners. The critical role of accurate Ca²⁺ signaling on cellular function is underscored by the fact that there are three independent CaM genes (CALM1-3) in the human genome. All three genes are functional and encode the exact same CaM protein. Moreover, CaM has a completely conserved amino acid sequence across all vertebrates. Given this degree of conservation, it was long thought that mutations in CaM were incompatible with life. It was therefore a big surprise when the first CaM mutations in humans were identified six years ago. Today, more than a dozen human

SUBMITTER: Jensen HH 

PROVIDER: S-EPMC6243062 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature