Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

@article{Demirci2006ProximalRT,
  title={Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).},
  author={Fatma Yesim Demirci and Min-Hwang Chang and Tammy S Mah and Michael F. Romero and Michael B. Gorin},
  journal={Molecular vision},
  year={2006},
  volume={12},
  pages={324-30}
}
PURPOSE The electrogenic Na+/HCO3- cotransporter (NBCe1) plays a major role in renal bicarbonate absorption via proximal tubules and therefore is crucial for maintaining normal blood pH. The human gene for NBCe1 (SLC4A4) produces two major transcripts by alternative promoter usage (kNBCe1, originally cloned from kidney and pNBCe1, pancreatic/general form… CONTINUE READING