The COPII pathway and hematologic disease

2012/05/15 by Rami Khoriaty, Matthew P. Vasievich, David Ginsburg · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · #Erythrocyte Function and Pathophysiology #Cellular transport and secretion #Hemoglobinopathies and Related Disorders

paper · pdf · doi:10.1182/blood-2012-01-292086

openalex publication_date 2012/05/15 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

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.

Citations

• Dynamics of the COPII coat with GTP and stable analogues
• Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
• Structure and Organization of Coat Proteins in the COPII Cage
• Structure of the Sec13/31 COPII coat cage
• Multiple Cargo Binding Sites on the COPII Subunit Sec24p Ensure Capture of Diverse Membrane Proteins into Transport Vesicles

Cited by

• Halperin–Birk syndrome [wikipedia]

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