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Article

Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo

31 Jul 2018

Abstract excerpt

Significance In humans, SEC23B deficiency results in congenital dyserythropoietic anemia type II, a disease of abnormal red blood cell development, while SEC23A deficiency results in cranio-lenticulo-sutural-dysplasia, a disease characterized by bone abnormalities due to defective collagen secretion (but no red blood cell defect). In this study, we show that SEC23A and SEC23B overlap in function, and that the...

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PMID: 30065114
DOI: 10.1073/pnas.1805784115

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Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivoPMID 30065114Read ↗

The Function of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable <i>In Vivo</i>Semantic proximity Read ↗

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

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