Mutations in SEC63 cause autosomal dominant polycystic liver disease.
(2004) Nature Genetics — Vol. 36, n° 6, p. 575-577 (2004)
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- Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.
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Davila, S., Furu, L., Gharavi, A. G., Tian, X., Onoe, T., Qian, Q., Li, A., Cai, Y., Kamath, P. S., King, B. F., Azurmendi, P. J., Tahvanainen, P., Kääriäinen, H., Höckerstedt, K., Devuyst, O., Pirson, Y., Martin, R. S., Lifton, R. P., Tahvanainen, E., et al. (2004). Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nature Genetics, 36(6), 575-577. https://doi.org/10.1038/ng1357 (Original work published 2004)