Abstract
Multiple diseases, hematologic and nonhematologic, result from defects in the early secretory pathway. Congenital dyserythropoietic anemia type II (CDAII) and combined deficiency of coagulation factors V and VIII (F5F8D) are the 2 known hematologic diseases that result from defects in the endoplasmic reticulum (ER)-to-Golgi transport system. CDAII is caused by mutations in the SEC23B gene, which encodes a core component of the coat protein complex II (COPII). F5F8D results from mutations in either LMAN1 (lectin mannose-binding protein 1) or MCFD2 (multiple coagulation factor deficiency protein 2), which encode the ER cargo receptor complex LMAN1-MCFD2. These diseases and their molecular pathogenesis are the focus of this review.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Anemia, Dyserythropoietic, Congenital* / genetics
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Anemia, Dyserythropoietic, Congenital* / metabolism
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Anemia, Dyserythropoietic, Congenital* / pathology
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COP-Coated Vesicles / metabolism
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COP-Coated Vesicles / pathology*
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Factor V Deficiency* / genetics
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Factor V Deficiency* / metabolism
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Factor V Deficiency* / pathology
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Hemophilia A* / genetics
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Hemophilia A* / metabolism
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Hemophilia A* / pathology
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Humans
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Mannose-Binding Lectins / genetics
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Mannose-Binding Lectins / metabolism
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Vesicular Transport Proteins / genetics
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Vesicular Transport Proteins / metabolism
Substances
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LMAN1 protein, human
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MCFD2 protein, human
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Mannose-Binding Lectins
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Membrane Proteins
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SEC23B protein, human
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Vesicular Transport Proteins