谷氨酸受体GluR2的转运
中文名称
通路描述
谷氨酸受体GluR2的转运受蛋白质相互作用和磷酸化事件的调控。GluR2在近端C末端结合NSF和AP2，在极远端C末端结合PICK和GRIP1/2。GluR2与NSF的结合对于维持基础水平和突触活动下的GluR2含量至关重要。GluR2与GRIP的结合有助于锚定AMPA受体。GluR2在S880位点的磷酸化会破坏GRIP相互作用但允许PICK结合。PICK由Ca敏感的蛋白激酶C（PKC）激活。在基础条件下，海马突触中GluR2/GluR3复合物通过内吞和外排循环于突触和内体之间。GRIP锚定受体于突触，而PICK相互作用导致受体内吞，NSF帮助维持突触受体。星形细胞主要含有GluR3同源二聚体作为Ca通透性受体。GluR3与GRIP的结合被PICK通过GluR3上S880位点的磷酸化破坏。在重复性突触前活动条件下，存在PICK介导的GluR2缺失AMPA受体的移除和GluR2含量AMPA受体的选择性突触内化。GluR2含量AMPA受体首先由PICK递送至表面，并由NSF介导的机制动员至突触（Liu SJ和Cull-Candy SG. Nat Neurosci. 2005 Jun;8(6):768-75）。
英文描述
Defective CYP11A1 causes AICSR Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1) normally catalyses the side-chain cleavage of cholesterol to form pregnenolone. Defects in CYP11A1 can cause Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR; MIM:613743). This is a rare disorder that can present as acute adrenal insufficiency in infancy with elevated ACTH and plasma renin activity and low or absent adrenal steroids. The severest phenotype is loss-of-function mutations associated with prematurity, complete under-androgenisation and severe, early-onset adrenal failure (Kim et al. 2008).
所含基因
3 个基因