Description
Product Characteristics:
The four isoforms of potassium/chloride co-transport channels (KCC) belong to a superfamily of cation-chloride co-transporters involved in cell volume maintenance. Nitric oxide (NO) donors activate KCCs, while inhibitors of the cGMP pathway prevent NO donor activation. The ubiquitously expressed KCC1 contains 12 transmembrane domains with both cytoplasmic N and C terminal domains. KCC2 expression is limited to neuronal tissues by a restrictive element similar to the neuronal-restrictive silencing factor. In neurons, KCC2 expression is correlated with an inhibitory response to GABA, while the absence of KCC2 is necessary for an unusual excitatory response to GABA. Alterations of KCC2 expression in the inferior colliculus of rat brain may be related to seizure susceptibility. Conversely, KCC3 is not suspected to play a major role in epilepsy. The two splice variants of KCC3, KCC3a and KCC3b, are predominantly expressed in brain and kidney, respectively, while KCC4 is expressed in muscle, brain, lung, heart and kidney.
Subcellular location: Cell membrane
Synonyms: ACCPN, Furosemide sensitive KCl cotransporter 3, Gaxp, KCC 3, KCC 3A, KCC 3B, KCC3 A, KCC3, KCC3 B, KCC3A, KCC3B, Potassium chloride cotransporter 3, Potassium chloride cotransporter KCC3a S3, SLC12 A6, SLC12A 6, Solute carrier family 12 potassium/chloride transporters, member 6, Solute carrier family 12, member 6, S12A6_HUMAN.
Target Information: This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]