disease:Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:607812]. Cranio-lenticulo-sutural dysplasia (CLSD) is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.,function: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.,similarity:Belongs to the SEC23/SEC24 family. SEC23 subfamily.,subcellular location:In the ribosome-free transitional face of the ER and associated vesicles.,subunit:COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1. Interacts with SEC23IP. Interacts with HTR4 (By similarity). Interacts with SEC16A.,
Cytoplasmic vesicle, COPII-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side . Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm, cytosol . Enriched at endoplasmic reticulum exit sites, also known as transitional endoplasmic reticulum (tER). .
Ubiquitously expressed.
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