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An X-linked Channelopathy with Cardiomegaly due to a CLIC2 Mutation Enhancing Ryanodine Receptor Channel Activity

Takano, Kyoko; Liu, Dan; Tarpey, Patrick; Gallant, Esther; Lam, Alex; Witham, Shawn; Alexov, Emil; Chaubey, Alka; Stevenson, Roger E; Schwartz, Charles E; Board, Philip; Dulhunty, Angela


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 in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: Human Molecular Genetics
DOI: 10.1093/hmg/dds292


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