Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.
Zhu Q, Shao XM, Kao L, Azimov R, Weinstein AM, Newman D, Liu W, Kurtz I.
Zhu Q, et al.
Am J Physiol Cell Physiol. 2013 Aug 15;305(4):C392-405. doi: 10.1152/ajpcell.00044.2013. Epub 2013 May 1.
Am J Physiol Cell Physiol. 2013.
PMID: 23636456
Free PMC article.
In contrast, electroneutral NBCe1-T485S is unable to transport NO3(-), compatible with the hypothesis that it mediates Na(+)-HCO3(-) cotransport. In patients, NBCe1-A-T485S is predicted to transport Na(+)-HCO3(-) in the reverse direction from blood into proximal tubule cel …
In contrast, electroneutral NBCe1-T485S is unable to transport NO3(-), compatible with the hypothesis that it mediates Na(+)-HCO3(-) cotrans …