Recombinant lecithin:cholesterol acyltransferase containing a Thr123-->Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein.

@article{Karmin1993RecombinantLA,
  title={Recombinant lecithin:cholesterol acyltransferase containing a Thr123-->Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein.},
  author={O Kar-min and J. S. Hill and Xingbo Wang and Peter C. H. Pritchard},
  journal={Journal of lipid research},
  year={1993},
  volume={34 1},
  pages={81-8}
}
Fish-eye disease is a rare genetic disorder of high density lipoprotein (HDL) metabolism that is characterized biochemically by a partial deficiency of the enzyme lecithin:cholesterol acyltransferase (LCAT). One of the mutations that is causative for fish-eye disease occurs at codon 123 of the LCAT gene. This mutation results in the exchange of a threonine residue for an isoleucine in the LCAT protein (Thr123-->Ile). In order to understand the functional significance of this exchange, we have… CONTINUE READING

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