ATP6V1H - ATPase H+ transporting V1 subunit H Gene

中文名称：ATPase H+ 转运 V1 亚基 H

种属: Homo sapiens

同用名: SFD; NBP1; VMA13; CGI-11; MSTP042; SFDbeta; SFDalpha

关于 ATP6V1H

功能概要

该基因编码液泡 ATP 酶 (V-ATPase) 的一个组分，这是一种介导细胞内细胞器酸化的多亚基酶。 V-ATPase 依赖性细胞器酸化是多种过程所必需的，包括蛋白质分选、酶原激活、受体介导的内吞作用和突触小泡质子梯度生成。编码的蛋白质是 V-ATPase 的 V1 结构域的调节 H 亚基，它是催化 ATP 而不是 V-ATPase 组装所必需的。该基因表达减少可能在 2 型糖尿病的发展中起作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 5 月]

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]