Article
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Human molecular genetics - 15 Oct 2012
Takano Kyoko, Liu Dan, Tarpey Patrick, Gallant Esther, Lam Alex, Witham Shawn, Alexov Emil, Chaubey Alka, Stevenson Roger E, Schwartz Charles E, Board Philip G, Dulhunty Angela F
Abstract excerpt
Chloride intracellular channel 2 (CLIC2) protein is a member of the glutathione transferase class of proteins. Its' only known function is the regulation of ryanodine receptor (RyR) intracellular Ca(2+) release channels. These RyR proteins play a major role in the regulation of Ca(2+) signaling in many cells. Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.