{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSEC23B is a core component of the COPII vesicle coat that mediates the transport of secretory proteins from the endoplasmic reticulum (ER) to the Golgi apparatus, a process fundamental for normal cellular function. In erythroid cells, SEC23B is critically required for proper differentiation and maturation; reduced expression or mutation of SEC23B results in ineffective erythropoiesis and the distinctive morphological abnormalities observed in congenital dyserythropoietic anemia type II (CDAII). Numerous studies have delineated a broad spectrum of SEC23B mutations—including missense, nonsense, frameshift, and splicing variants—that disrupt this vesicular trafficking and lead to hypoglycosylation of red blood cell membrane proteins. Moreover, patient‐derived cell studies and animal models from diverse populations have established SEC23B as non‐redundant in erythropoiesis, with even subtle changes compromising normal red blood cell development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its canonical role in vesicular trafficking, SEC23B has been implicated in non‑traditional cellular processes that may influence tumorigenesis and stress responses. Under conditions such as nutrient deprivation or endoplasmic reticulum stress, SEC23B participates in the regulation of autophagy by modulating its own stability through phosphorylation‐dependent interactions, thereby impacting the efficiency of autophagosome biogenesis. Altered subcellular localization of both mutant and wild‑type SEC23B—including unexpected presence in the nucleus and nucleoli—suggests additional roles in ribosome biogenesis and the regulation of protein translation. Furthermore, aberrant SEC23B function has been linked to defective membrane trafficking of adhesion molecules in cancer cells and may contribute to cancer predisposition, as evidenced by studies in hereditary cancer syndromes and investigations into microRNA‑mediated regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "24"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nSEC23B’s function also displays tissue-specific nuances and interplay with its paralog SEC23A. Although these two proteins share a high degree of functional equivalence—illustrated by transgenic rescue studies in animal models—differential expression patterns underlie the distinct clinical outcomes observed in SEC23B deficiency (as seen in CDAII) versus SEC23A impairment. Mouse models engineered to harbor SEC23B mutations recapitulate human phenotypes ranging from pancreatic insufficiency and growth hormone insensitivity to chronic pancreatitis, thereby underscoring the importance of SEC23B in secretory organs beyond the erythroid lineage. In parallel, studies in hepatic cells have revealed that loss‑of‑function of SEC23B perturbs receptor glycosylation, contributing to iron overload via impaired hepcidin induction, while novel therapeutic approaches targeting growth differentiation factors hold promise for correcting the downstream consequences of SEC23B dysfunction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "25", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Klaus Schwarz, Achille Iolascon, Fatima Verissimo, et al. 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