XB-FEAT-960698

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slc12a6

This is the community wiki page for the gene slc12a6 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

04/22/ 2016

Human name has changed for Entrez Gene: 9990. From solute carrier family 12 (potassium/chloride transporter), member 6 to solute carrier family 12 member 6

functional notes from PMID: 31439721

"Potassium chloride cotransporters (KCC1, KCC2, KCC3 and KCC4) are encoded by the SLC12A gene family (SLC12A4, SLC12A5, SLC12A6 and SLC12A7) and are involved in regulation of the intracellular ionic milieu by mediating electroneutral potassium and chloride efflux in response to osmotic changes.[8] By modulating intracellular chloride concentrations, KCC plays an important role in the maintenance of cell volume, neural excitability and epithelial transport.[9] KCC3, which is encoded by SLC12A6, is predominantly expressed in the brain and spinal cord (neurons and glial cells) of the central nervous system and in the dorsal root ganglion of the peripheral nervous system.[10 11] Dysregulation of chloride concentrations in neurons may influence the neuronal activity and their response to GABA."

references

[8] Rinehart J, Maksimova YD, Tanis JE, Stone KL, Hodson CA, Zhang J, Risinger M, Pan W, Wu D, Colangelo CM, Forbush B, Joiner CH, Gulcicek EE, Gallagher PG, Lifton RP. Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell2009;138:525–36.doi:10.1016/j.cell.2009.05.031

[9] Gagnon KB, Delpire E. Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts. Am J Physiol Cell Physiol2013;304:C693–C714.doi:10.1152/ajpcell.00350.2012

[10] Pearson MM, Lu J, Mount DB, Delpire E. Localization of the K+–Cl− cotransporter, KCC3, in the central and peripheral nervous systems: expression in the choroid plexus, large neurons and white matter tracts. Neuroscience2001;103:481–91.doi:10.1016/S0306-4522(00)00567-4

[11] Shekarabi M, Salin-Cantegrel A, Laganière J, Gaudet R, Dion P, Rouleau GA. Cellular expression of the K+–Cl− cotransporter KCC3 in the central nervous system of mouse. Brain Res2011;1374:15–26.doi:10.1016/j.brainres.2010.12.010