Molecular mechanisms of the electrogenic Na+ Bicarbonate Cotransporter (NBCe1)

DESCRIPTION (provided by applicant): Regulation of acid-base homeostasis (blood pH ~7.4) and Na+ homeostasis is critical for animal life. In all vertebrates, including mammals, homeostasis is achieved through strict regulation of levels of NaHCO3. The electrogenic Na+ bicarbonate cotransporter, NBCel, is a major regulator of NaHCO3 levels through its transport activity at the basolateral membrane of the renal proximal tubule. The importance of this transporter is shown by naturally occurring, recessive, point mutations (R298S , R510H, S427L) in human kidney NBCel (hkNBCel), which cause profound proximal renal tubular acidosis (pRTA), glaucoma and cataracts. Blood pH