重组梅克尔憩室综合征相关蛋白5
交货期：1周
产品别名：Recombinant RPGRIP1L
Recombinant RPGRIP1 like protein
Recombinant RPGRIP1 like protein
基因名：
产品别名：
背景信息：
RPGRIP1L
产品别名：
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).
产品发布日期：2026.03.18
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