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BRENDA support

Literature summary for 5.6.1.6 extracted from

  • Cui, L.; Aleksandrov, L.; Hou, Y.; Gentzsch, M.; Chen, J.; Riordan, J.R.; Aleksandrov, A.A.
    The role of cystic fibrosis transmembrane conductance regulator phenylalanine 508 side chain in ion channel gating (2006), J. Physiol., 572, 347-358.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expression in BHK 21 cell Homo sapiens

Protein Variants

Protein Variants Comment Organism
E1371S mutation in CFTR mutant lacking all cysteine residues due to replacement by alanine, except Cys590 and Cys592, which are replaced by leucine. Mutant can be locked in an open state Homo sapiens
F508C/E1371S mutation in CFTR mutant lacking all cysteine residues due to replacement by alanine, except Cys590 and Cys592, which are replaced by leucine. Mutation F508C prevents the cysless E1371S channel from maintaining the permanently open state, allowing closing to occur. Specifically, benzyl-methanethiosulphonate modification restores the gating behaviour to that of cysless E1371S Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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