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SCN8A Q9UQD0

钠通道蛋白8型亚基α (钠通道蛋白VIII型亚基α) (电压门控钠通道亚基α Nav1.6)

蛋白质信息 (UniProt)

钠通道蛋白8型亚基α (钠通道蛋白VIII型亚基α) (电压门控钠通道亚基α Nav1.6)

Q9UQD0

功能描述

电压门控钠通道复合物的成孔亚基,响应跨膜电压差呈现开放或关闭构象,钠离子顺其电化学梯度选择性通过 (PubMed:24874546, PubMed:25239001, PubMed:25725044, PubMed:26900580, PubMed:29726066, PubMed:33245860, PubMed:36696443, PubMed:36823201)。通过调节动作电位阈值和传导,促进神经元兴奋性 (PubMed:24874546, PubMed:25239001, PubMed:25725044, PubMed:26900580, PubMed:29726066, PubMed:33245860, PubMed:36696443, PubMed:36823201)。 {ECO:0000269|PubMed:24874546, ECO:0000269|PubMed:25239001, ECO:0000269|PubMed:25725044, ECO:0000269|PubMed:26900580, ECO:0000269|PubMed:29726066, ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:36823201}.; FUNCTION: [Isoform 5]: 在非神经元细胞中表达更特异,可能在细胞内区室的钠释放中发挥作用,并参与控制足体形成以及巨噬细胞的粘附和运动。 {ECO:0000269|PubMed:19136557}.

组织特异性

Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level) (PubMed:28842554).

亚细胞定位

Cell membrane

关键词

3D-structure Alternative splicing Cell junction Cell membrane Cell projection Cytoplasmic vesicle Disease variant Disulfide bond Epilepsy Glycoprotein