title: The COPII pathway and hematologic disease.
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.
authors.affiliation: Department of Hematology and Oncology, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Rami
authors.initials: R
authors.lastname: Khoriaty
authors.forename: Matthew P
authors.initials: MP
authors.lastname: Vasievich
authors.forename: David
authors.initials: D
authors.lastname: Ginsburg
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D022181:COP-Coated Vesicles / Q000378:metabolism / Q000473:pathology*; D005166:Factor V Deficiency / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006467:Hemophilia A / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D037241:Mannose-Binding Lectins / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D033921:Vesicular Transport Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: C084004:LMAN1 protein, human; C475146:MCFD2 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins; C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins