Gene Symbol | SLC12A5 |
Entrez Gene ID | 57468 |
Full Name | solute carrier family 12 member 5 |
Synonyms | EIEE34,EIG14,KCC2,hKCC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 34, 616645 (3); {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3) |