蛋白质/抗原/多肽 >> 重组蛋白
重组梅克尔憩室综合征相关蛋白5
半岛bd体育手机客户端 介绍
基因名:
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:
RPGRIP1L is a 1,315 amino acid protein that belongs to the RPGRIP1 family and is thought to function in programmed cell death, craniofacial development and formation of the left-right axis. Existing as two alternatively spliced isoforms that localize to the cytoplasm, cytoskeleton, centrosome and cilium basal body, RPGRIP1L interacts with nephrocystin-4 and is moderately expressed in brain, retina and kidney. Containing two C2 domains, RPGRIP1L is encoded by a gene that maps to human chromosome 16q12.2. Defects in the gene encoding RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7), COACH syndrome (COACHS) and Meckel syndrome type 5 (MKS5).
标签:His-tag |
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