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Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.

Communications biology - 29 Aug 2023

Roy Mousam, Fleisher Rachel C, Alexandrov Alexander I, Horovitz Amnon

Abstract excerpt

The CCT/TRiC chaperonin is found in the cytosol of all eukaryotic cells and assists protein folding in an ATP-dependent manner. The heterozygous double mutation T400P and R516H in subunit CCT2 is known to cause Leber congenital amaurosis (LCA), a hereditary congenital retinopathy. This double mutation also renders the function of subunit CCT2, when it is outside of the CCT/TRiC complex, to be defective in...

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PMID: 37644231
DOI: 10.1038/s42003-023-05261-8
PMCID: PMC10465592

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