Osamu Yamazaki, Maho Yamashita, Jinping Li, Fumika Ochiai-Homma, Tadashi Yoshida, Junichi Hirahashi, Taiji Furukawa, Ken Kozuma, Yoshihide Fujigaki, George Seki, Matsuhiko Hayashi, Shigeru Shibata
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 undetermined. Here, we investigated the functional properties of SNVs in NBCe1. From the National Center for Biotechnology Information dbSNP database, we identified 13 SNVs that have not previously been characterized in the highly conserved, transmembrane domains of NBCe1-A...
December 1, 2021: American Journal of Physiology. Renal Physiology