ABCC7 p.Phe1437*
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[hide] Effects of C-terminal deletions on cystic fibrosis... Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1937-42. Epub 2003 Feb 10. Ostedgaard LS, Randak C, Rokhlina T, Karp P, Vermeer D, Ashbourne Excoffon KJ, Welsh MJ
Effects of C-terminal deletions on cystic fibrosis transmembrane conductance regulator function in cystic fibrosis airway epithelia.
Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1937-42. Epub 2003 Feb 10., 2003-02-18 [PMID:12578973]
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To better understand the function of the conserved C terminus of the cystic fibrosis (CF) transmembrane conductance regulator, we studied constructs containing deletions in the C-terminal tail. When expressed in well differentiated CF airway epithelia, each construct localized predominantly to the apical membrane and generated transepithelial Cl(-) current. The results suggested that neither the C-terminal PSD-95/Discs-large/ZO-1 (PDZ)-interacting motif nor other C-terminal sequences were absolutely required for apical expression in airway epithelia. Surprisingly, deleting an acidic cluster near the C terminus reduced both channel opening rate and transepithelial Cl(-) transport, indicating that it influences channel gating. These results may help explain the relative paucity of CF-associated mutations in the C terminus.
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No. Sentence Comment
118 In cell-attached patches, the F1437X deletion was reported to increase open and closed times (5).
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ABCC7 p.Phe1437* 12578973:118:30
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