Gene Symbol | CLCN2 |
Entrez Gene ID | 1181 |
Full Name | chloride voltage-gated channel 2 |
Synonyms | CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8,LKPAT,clC-2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3); {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3); {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3); Leukoencephalopathy with ataxia, 615651 (3) |