Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma.

@article{Caballero2001InefficientPO,
  title={Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma.},
  author={M. A. Cabajo Caballero and Teresa Borr{\'a}s},
  journal={Biochemical and biophysical research communications},
  year={2001},
  volume={282 3},
  pages={662-70}
}
Mutations in TIGR/MYOC (myocilin), a secretory protein of unknown function, have been recently linked to glaucoma. Most known mutations map to the C-terminus, an olfactomedin-like domain. We have previously shown that, in contrast to the wild-type, a truncated form of myocilin lacking the olfactomedin domain is not secreted. In this study, we present evidence that the mutant protein is not correctly processed in the endoplasmic reticulum (ER) and accumulates into insoluble aggregates. In… CONTINUE READING

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