Protein-coding gene in the species Homo sapiens
CLCN2 |
---|
|
Identifiers |
---|
Aliases | CLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2 |
---|
External IDs | OMIM: 600570 MGI: 105061 HomoloGene: 3213 GeneCards: CLCN2 |
---|
|
|
|
|
|
Wikidata |
|
Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[5][6] Mutations of this gene have been found to cause leukoencephalopathy[7] and Idiopathic generalised epilepsy (OMIM: 600699),[8] although the latter claim has been disputed.[9] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.