Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis

Mutations in SLC4A4, the gene encoding the electrogenic Na(+)-HCO(3)(−) cotransporter NBCe1, cause severe proximal renal tubular acidosis (pRTA), growth retardation, decreased IQ, and eye and teeth abnormalities. Among the known NBCe1 mutations, the disease-causing mechanism of the T485S (NBCe1-A nu...

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Main Authors: Zhu, Quansheng, Shao, Xuesi M., Kao, Liyo, Azimov, Rustam, Weinstein, Alan M., Newman, Debra, Liu, Weixin, Kurtz, Ira
Format: Artigo
Sprog:Inglês
Udgivet: American Physiological Society 2013
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3891219/
https://ncbi.nlm.nih.gov/pubmed/23636456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00044.2013
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