CALM2
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Calmodulin 2 is a protein that in humans is encoded by the CALM2 gene.[3][4] A member of the calmodulin family of signaling molecules, it is an intermediary between calcium ions, which act as a second messenger, and many intracellular processes, such as the contraction of cardiac muscle.[5]
Clinical significance
Mutations in CALM2 are associated with cardiac arrhythmias.[6] In particular, several single-nucleotide polymorphisms of CALM2 have been reported as potential causes of sudden infant death syndrome. Due to their heritability, CALM2 mutations can affect multiple children in a family,[7] and the discovery of the deadly consequences of these mutations has led to challenges against the murder convictions of mothers of multiple deceased infants, as in the case of Kathleen Folbigg, acquitted after more than 20 years imprisonment, in Australia.[8]