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梅克尔憩室综合征相关蛋白5抗体
半岛bd体育手机客户端 介绍
靶标:
RPGRIP1L 半岛bd体育手机客户端 别名: COACH3; CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134; RPGRIP1L; RPGRIP1 like; RPGRIP1 like; protein fantom; RPGR-interacting protein 1-like protein; fantom homolog; nephrocystin-8; protein phosphatase 1, regulatory subunit 134; 梅克尔憩室综合征相关蛋白5; 背景信息:
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5).
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