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PSEN2 P49810

早老蛋白-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) [剪切为:早老蛋白-2 NTF亚基;早老蛋白-2 CTF亚基]

蛋白质信息 (UniProt)

早老蛋白-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) [剪切为:早老蛋白-2 NTF亚基;早老蛋白-2 CTF亚基]

P49810

功能描述

γ-分泌酶复合物的催化亚基,该复合物是一种内切蛋白酶复合物,催化整合膜蛋白(如Notch受体和APP(淀粉样β前体蛋白))的膜内切割 (PubMed:10497236, PubMed:10652302, PubMed:16752394, PubMed:27293189, PubMed:36272978)。选择性切割晚期内体/溶酶体定位的底物,并产生包含较长淀粉样β的显著细胞内淀粉样β池 (PubMed:27293189)。全蛋白作为钙泄漏通道发挥功能,允许钙从内质网被动移动到细胞质,并参与钙稳态 (PubMed:16959576)。是线粒体-内质网膜栓系的调节因子,并调节ER和线粒体之间钙离子的穿梭 (PubMed:21285369)。 {ECO:0000269|PubMed:10497236, ECO:0000269|PubMed:10652302, ECO:0000269|PubMed:16752394, ECO:0000269|PubMed:16959576, ECO:0000269|PubMed:21285369, ECO:0000269|PubMed:27293189, ECO:0000269|PubMed:36272978}。

组织特异性

[Isoform 1]: Expressed in the placenta, skeletal muscle and heart (PubMed:8574969). Expressed in the somatodendritic compartment of hippocampal neurons (PubMed:27293189).

亚细胞定位

Endoplasmic reticulum membrane

关键词

3D-structure Alternative splicing Alzheimer disease Amyloidosis Cardiomyopathy Disease variant Endoplasmic reticulum Endosome Golgi apparatus Hydrolase