RPGRIP1 Q96KN7

X连锁视网膜色素变性GTPase调节因子相互作用蛋白1 (RPGR相互作用蛋白1)

功能描述

可能作为支架蛋白发挥功能。RPGR在感光细胞连接纤毛处的正确定位所必需。感光细胞外节正常的盘形态发生和盘组织以及感光细胞的存活所必需。 {ECO:0000250|UniProtKB:Q9EPQ2, ECO:0000305|PubMed:10958648}。

组织特异性

Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.

亚细胞定位

Cell projection, cilium