Informazioni sul prodotto
The SLC12 family consists of nine member proteins, SLCA1 through to SLC12A9. Solute Carrier Family 12 Member 2 (SLC12A2) encodes a protein used in mediating the cotransport and reabsorption of Na+, K+ and 2Cl- ions (NKCC), it is a membrane-bound symporter channel needed for both epithelial absorption and secretion of ions. SLC12A2 spans the membrane and is necessary in maintaining ionic balance, cell volume and overall homeostasis of a cell._x000D_
_x000D_
SLC12A2 is shown to be involved in neurodevelopment, specifically in the cortex, and is associated with neurodevelopmental disorders, with SLC12A2 mutation rate being significantly higher in individuals with neurodevelopmental issues. Additionally, mutations in SLC12A2 have been shown to cause issues with sensorineural pathways, causing hearing loss and deafness. Research into SLC12A2 and the SLC12 family as a whole could be beneficial in finding treatments for these complex neuronal issues.