about
Defective CFTR does not transport Cl- from cytosol to extracellular regionIvacaftor binds CFTR G551DIvacaftor:CFTR G551D transports Cl- from cytosol to extracellular regionCFTR F508del binds components of the ERAD machinery for ubiquitination and degradationRNF5 and RNF185 ubiquitinate CFTR F508delVCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosolCFTR F508del is degraded by the 26S proteasome
P361
Q50288955-1FAF53AB-DF4B-4267-8DDE-675626BE6BDCQ50288956-CC6F95C6-A738-4A09-BB4F-D5B1AE04C956Q50288957-877E0467-3C77-48D7-83EA-EEC2E3E846B4Q50288960-12EADAE8-9846-4531-9D53-B991B840142CQ50288961-916D2F3F-8527-47C9-888A-29D4622A6FBDQ50288962-B74FEE46-5992-4D5B-B3FD-E9A78BB3238CQ50288963-58D73A2E-B469-4EBF-93EC-3F8027A1CEC5
P361
description
An instance of the biological ...... ystic fibrosis in Homo sapiens
@en
name
Defective CFTR causes cystic fibrosis
@en
type
label
Defective CFTR causes cystic fibrosis
@en
prefLabel
Defective CFTR causes cystic fibrosis
@en
P2860
P527
P2860
P3937
R-HSA-5678895