2024年12月24日 · ATP6V1H (ATPase H+ Transporting V1 Subunit H) is a Protein Coding gene. Diseases associated with ATP6V1H include Lateral Meningocele Syndrome and Osteogenesis Imperfecta, Type V. Among its related pathways are Insulin receptor recycling and Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters.

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene. [5][6][7] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles.

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.

2025年1月4日 · Title: ATP6V1H facilitates osteogenic differentiation in MC3T3-E1 cells via Akt/GSK3β signaling pathway. Partial loss of ATP6V1H inhibits osteogenic differentiation and promotes adipogenic differentiation of bone marrow stromal cells.

2025年2月8日 · ATP6V1H may represent a critical molecular mechanism involved in the development of type 2 diabetes and its compilations through its important regulatory effect on vacuolar-ATPase activity. Data show that the BCG phagosome is relatively depleted in LAMP-2, NPC1, flotillin-1, vATPase, and syntaxin 3.

日前，第四军医大学口腔医院段小红教授带领的口腔遗传病学研究小组，在国际上首次发现了影响人类骨质疏松发生的新基因——ATP6V1H。 该研究成果已在最新一期国际学术期刊《治疗诊断学》发表。 骨质疏松症是常见慢性疾病，被称为“沉默的杀手”，临床中以骨量减少、骨骼脆性增加、骨折风险增高为特征，威胁着老年人群身体健康。 根据《骨质疏松防治中国白皮书》调查显示，我国50岁以上人群中骨质疏松症总患病率为. 日前，第四军医大学口腔医院段小红教授带领的口 …

2018年7月7日 · ATP6V1H encodes subunit H of vacuolar ATPase (V-ATPase) and may regulate osteoclastic function. The deficiency of ATP6V1H caused bone loss in human, mouse and zebrafish. In this report, we identified the mechanisms by which ATP6V1H regulates proliferation and differentiation of bone marrow stromal c …

2023年11月20日 · Through manipulating the endogenous TFEB–v-ATPase signaling, executed by mutagenesis of the CLEAR sequence in the promoter of one of the v-ATPase subunits, Atp6v1h, we demonstrate that specific...

atp6v1h的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为这个基因编码液泡atp酶（v-atp酶），其介导细胞内细胞器的酸化多亚基酶的组分。

预测能激活质子转运ATP酶活性，旋转机制。 预测参与内吞作用。 预测是液泡质子转运V型ATP酶V1结构域的一部分。 与人ATP6V1H（ATP酶H+转运V1亚基H）正同源。 [由基因组资源联盟，2022年4月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 Functional annotation of a full-length mouse cDNA collection. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.