An X-linked Channelopathy with Cardiomegaly due to a CLIC2 Mutation Enhancing Ryanodine Receptor Channel Activity
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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
Description
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]
Collections | ANU Research Publications |
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Date published: | 2012 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/54857 |
Source: | Human Molecular Genetics |
DOI: | 10.1093/hmg/dds292 |
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