2yrd
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Solution structure of the zf-Sec23_Sec24 from human Sec23A mutant V69A
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Structural highlights
DiseaseSC23A_HUMAN Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:607812; also known as cranio-lenticulo-sutural dysplasia. CLSD is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.[1] FunctionSC23A_HUMAN Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex. Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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This page was last modified 19:16, 29 May 2024.