Article
[Research progress on inherited distal renal tubular acidosis due to variants of V-ATPase-related genes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2024
Peng Siqi, Wu Qianqian, Yang Junlan, Wang Bin, Zhang Xiaoliang
Abstract excerpt
V-ATPases are a class of multi-subunit protein complexes that utilize energy derived from ATP hydrolysis for mediating H+ transport across cell membranes, which plays an important role in a range of life activities by acidifying the intracellular and extracellular environment. Variants of V-ATPase genes may lead to complete or partial loss of V-ATPase activity, which in turn may impair the ability of type A...
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