University of Illinois Urbana-Champaign
Eric Delpire lab
The potassium chloride co-transporter 3 (KCC3) extrudes K+ and Cl- ions from cells under cell swelling conditions. KCC3 loss of function mutations have been shown to cause the disease Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN). Global KCC3 knock-out and neuron specific KCC3 knock-out mice recapitulate patient phenotypes; however, it is still unclear which exact cell types are important for ACCPN and how KCC3 function contributes to the disease.