Gene Symbol | CLIC2 |
Entrez Gene ID | 1193 |
Full Name | chloride intracellular channel 2 |
Synonyms | CLIC2b,MRXS32,XAP121 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a chloride intracellular channel protein. 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. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | ?Mental retardation, X-linked, syndromic 32, 300886 (3) |