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

Pub. Date : 2013 Aug 15

PMID : 23636456






1 Functional Relationships(s)
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1 In patients, NBCe1-A-T485S is predicted to transport Na(+)-HCO3(-) in the reverse direction from blood into proximal tubule cells thereby impairing transepithelial HCO3(-) absorption, possibly representing a new pathogenic mechanism for generating human pRTA. Bicarbonates solute carrier family 4 member 4 Homo sapiens