ABCMdb

PMID: 15463806

Vankeerberghen A, Cuppens H, Cassiman JJ
The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions.
J Cyst Fibros. 2002 Mar;1(1):13-29., [PubMed]

Sentences

No. Mutations Sentence Comment

219 ABCC7 p.Gly551Asp This down-regulation of rENaC is not observed when the most common CFTR mutant F508del, or the non-conductive G551D variant are present; an observation that is in agreement with the high sodium absorption found in CF lung epithelia w95x. Login to comment 241 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu The CFTR sequences essential for Cl transport and activation of y ORCC seem to be different: A455E and G551D are two CFTR mutations resulting in CFTR channels with reduced chloride transport but A455E retains its ability to stimulate ORCC and not G551d. Login to comment 242 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu A455E is associated with mild lung disease, G551D with severe, pointing to the importance of the regulatory properties of CFTR w103x. Login to comment 282 ABCC7 p.Gly551Asp CFTR itself seems to play an important role since endocytosis is not inhibited by cAMP when a nonfunctional CFTR variant, like G551D CFTR, is present in the cell membrane w53x. Login to comment 383 ABCC7 p.Arg117His ABCC7 p.Arg334Trp R117H, R334W and R234P all give rise to a chloride channel with a normal phosphorylation and ATP-dependent regulation, but with reduced single channel currents. Login to comment 390 ABCC7 p.Pro574His ABCC7 p.Ala455Glu Mutations that cause a small defect in maturation but normal or increased chloride transport activity, like A455E and P574H tend to be classified in this fifth class of mutations w162x. Login to comment 394 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Mutational analysis showed that two CFTR mutations resulting in CFTR channels with reduced chloride transport, A455E and G551D, have a different impact on the regulation of ORCC: A455E retains its ability to stimulate ORCC and G551D not w103x. Login to comment