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NPHP3 Q7Z494

肾胱蛋白-3

蛋白质信息 (UniProt)

肾胱蛋白-3

Q7Z494

功能描述

正常纤毛发育和功能所必需。抑制disheveled-1诱导的典型Wnt信号通路活性,并可能也在控制调节平面细胞极性的非典型Wnt信号通路中发挥作用。可能作为不同Wnt信号通路之间的分子开关。正常的汇聚延伸细胞运动所必需。 {ECO:0000269|PubMed:18371931}。

组织特异性

Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.

亚细胞定位

Cell projection, cilium

关键词

3D-structure Alternative splicing Cell projection Ciliopathy Cilium Coiled coil Disease variant Lipoprotein Meckel syndrome Myristate