Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

W. M. Nichols, U. Seligsohn, A. Zivelin, V. H. Terry, C. E. Hertel, M. A. Wheatley, M. J. Moussalli, H. P. Hauri, N. Ciavarella, R. J. Kaufman, D. Ginsburg, N. Sharon

Research output: Contribution to journalArticlepeer-review

Abstract

The demonstration of homozygosity for an inactivating mutation in all of the patients from nine families with combined FV and FVIII deficiency clearly establishes ERGIC-53 as the gene responsible for the disease. This surprising finding identifies the molecular basis of the disorder as a defect in a common pathway for the intracellular trafficking of these two blood coagulation factors. In addition, the data demonstrate a role for a lectin within the ER-Golgi intermediate compartment in the transport of a specific subset of secreted glycoproteins.

Original languageEnglish
Pages (from-to)714-717
Number of pages4
JournalChemtracts
Volume12
Issue number10
StatePublished - Sep 1999

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