鍩哄洜鍚嶏細

RPGRIP1L

浜у搧鍒悕锛欬p style="text-indent: 2em;">COACH3锛 CORS3锛 FTM锛 JBTS7锛 MKS5锛 NPHP8锛 PPP1R134锛 RPGRIP1L锛 RPGRIP1 like锛 RPGRIP1 like锛 protein fantom锛 RPGR-interacting protein 1-like protein锛 fantom homolog锛 nephrocystin-8锛 protein phosphatase 1, regulatory subunit 134锛 姊呭厠灏旀啯瀹ょ患鍚堝緛鐩稿叧铔嬬櫧5锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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).