CLIC2

Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 2 is a member of the p64 family; the protein is detected in fetal liver and adult skeletal muscle tissue. This gene maps to the candidate region on chromosome X for incontinentia pigmenti. [provided by RefSeq]

chloride intracellular channel 2

Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.

Chloride transmembrane transport Source: InterPro
Glutathione metabolic process Source: InterPro
Negative regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
Positive regulation of binding Source: BHF-UCL
Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
Signal transduction Source: UniProtKB

Cytoplasm; Membrane. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.

Mental retardation, X-linked, syndromic, 32 (MRXS32):
A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Helical: 32-52