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BSND Q8WZ55

Barttin蛋白

蛋白质信息 (UniProt)

Barttin蛋白

Q8WZ55

功能描述

阴离子选择性CLCNKA:BSND和CLCNKB:BSND异聚通道的调节亚基,该通道参与沿肾单位的基底侧氯化物电导以实现尿液浓缩并维持全身酸碱稳态,以及在内耳血管纹中建立正常听力所需的耳蜗内电位 (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830)。最可能作为分子伴侣发挥作用,变构调节CLCNKA:BSND和CLCNKB:BSND通道在基底侧质膜域的正确分选以及向离子传导状态的功能转换。介导通道公共闸门的组成性开放 (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830)。 {ECO:0000269|PubMed:11734858, ECO:0000269|PubMed:12111250, ECO:0000269|PubMed:12574213, ECO:0000269|PubMed:16849430, ECO:0000269|PubMed:18776122, ECO:0000269|PubMed:19646679, ECO:0000269|PubMed:20538786, ECO:0000269|PubMed:26013830}。

组织特异性

Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.

亚细胞定位

Basolateral cell membrane

关键词

Bartter syndrome Cell membrane Deafness Disease variant Lipoprotein Membrane Palmitate Phosphoprotein Proteomics identification Reference proteome