PDZRN3 Q9UPQ7

PDZRN3 E3泛素-蛋白连接酶 (EC 2.3.2.27) (Numb蛋白X配体3) (含PDZ域RING指蛋白3) (RING型E3泛素转移酶PDZRN3) (信号素胞质域相关蛋白3) (SEMACAP3蛋白)

功能描述

E3泛素-蛋白连接酶。在调节肌管上MUSK的表面水平方面发挥重要作用。介导MUSK的泛素化，促进其内吞和溶酶体降解。可能有助于终末肌源性分化。 {ECO:0000250|UniProtKB:Q69ZS0}。

组织特异性

Widely expressed, including in the heart, skeletal muscle and liver and, at lower levels, in the brain, colon, small intestine, placenta and lung. Down-regulated in ovarian serous papillary tumors.

亚细胞定位

Synapse