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CLIC2 gene

Known as: CHLORIDE INTRACELLULAR CHANNEL 2, CLIC2, XAP121 
National Institutes of Health

Papers overview

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2014
2014
Xq28 duplication overlapping the int22h‐1/int22h‐2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability
Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X… 
Highly Cited
2013
Highly Cited
2013
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Highly Cited
2012
Highly Cited
2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Chloride intracellular channel 2 (CLIC2) protein is a member of the glutathione transferase class of proteins. Its' only known… 
Highly Cited
2011
Highly Cited
2011
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics
Large‐scale next generation resequencing of X chromosome genes identified a missense mutation in the CLIC2 gene on Xq28 in a male… 
Highly Cited
2011
Highly Cited
2011
Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis
Primary biliary cirrhosis (PBC) is an autoimmune chronic cholestatic liver disease with a strong genetic susceptibility due to… 
Review
2011
Review
2011
Regulation of the cardiac muscle ryanodine receptor by glutathione transferases
Glutathione transferases (GSTs) are generally recognized for their role in phase II detoxification reactions. However, it is… 
2009
2009
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy.
Highly Cited
2007
Highly Cited
2007
Structure of the Janus protein human CLIC2.
Highly Cited
2000
Highly Cited
2000
Identification of a novel member of the chloride intracellular channel gene family (CLIC5) that associates with the actin cytoskeleton of placental microvilli.
The chloride intracellular channel (CLIC) gene family has been implicated in chloride ion transport within various subcellular… 
Highly Cited
1997
Highly Cited
1997
Genomic structure of a novel chloride channel gene, CLIC2, in Xq28.
A transcript map was previously constructed in the 1200-kb telomeric region of Xq28. One of the cDNAs, XAP121, displayed homology… 
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