Article
A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity.
American journal of physiology. Renal physiology - 1 Dec 2021
Yamazaki Osamu, Yamashita Maho, Li Jinping, Ochiai-Homma Fumika, Yoshida Tadashi, Hirahashi Junichi, Furukawa Taiji, Kozuma Ken, Fujigaki Yoshihide, Seki George, Hayashi Matsuhiko, Shibata Shigeru
Abstract excerpt
Homozygous mutations in SLC4A4, which encodes the electrogenic Na+/[Formula: see text] cotransporter (NBCe1), cause proximal renal tubular acidosis associated with extrarenal symptoms. Although 17` mutated sites in SLC4A4 have thus far been identified among patients with proximal renal tubular acidosis, the physiological significance of other nonsynonymous single-nucleotide variants (SNVs) remains largely...
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