Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. The ATP7B protein is located in the trans-Golgi network of the liver and brain and balances the copper level in the body by excreting excess copper into bile and plasma.

2024年12月24日 · ATP7B (ATPase Copper Transporting Beta) is a Protein Coding gene. Diseases associated with ATP7B include Wilson Disease and Wolff Syndrome. Among its related pathways are Copper homeostasis and Ion channel transport.

2025年2月8日 · The ATP7B gene codes the ATP7B protein, which is an acronym for: ATPase activity, 7 distinct domain, and B class for second P-type ATPase copper binding pump. Mutations in the alpha-1-antitrypsin and Wilson's genes may act as cofactors in …

This gene has 26 transcripts (splice variants), 221 orthologues, 21 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues. 该基因是 P 型阳离子转运 ATPase 家族的成员，编码的蛋白质具有多个跨膜结构域、ATPase 共有序列、铰链结构域、磷酸化位点和至少 2 个假定的铜结合位点。 这种蛋白质是单体，作为铜转运 ATP 酶发挥作用，将铜从细胞中输出，例如将肝铜流出到胆汁中。

2022年3月4日 · ATP7A and ATP7B, two homologous copper-transporting P1B-type ATPases, play crucial roles in cellular copper homeostasis, and mutations cause Menkes and Wilson diseases, respectively. ATP7A/B contains a P-type ATPase core consisting of a membrane transport domain and three cytoplasmic domains, the …

The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule adenosine triphosphate (ATP).

ATP7B(ATPase copper transporting beta)，是一种跨膜ATP酶蛋白。它在细胞内负责调节铜元素的转运和代谢。ATP7B的结构包括多个功能区域，其中包括多个转运结构域和催化ATP水解的结构域。这些结构域协同作用，使得ATP7B能够在细胞膜上运输铜离子。

ATP7B: the Wilson disease ATPase and its functional domains. The ATP7B gene encodes a large membrane protein with significant sequence homology (50–60% identity) with the Menkes disease Cu-ATPase ATP7A. In the past several years, considerable progress has been made in analyzing the biochemical properties of these two proteins.

2025年2月9日 · Title: Integrative analysis of the cuproptosis-related gene ATP7B in the prognosis and immune infiltration of IDH1 wild-type glioma. AP-1gamma2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter.

atp7b是一种p型atp酶，主要在肝脏表达，但在其他一些组织中也有少量表达。 ATP7B负责铜的跨膜转运，使用ATP供能。 (参见 “肝豆状核变性的流行病学和发病机制”，关于‘铜代谢’一节 )