SEC23A and Cranio-Lenticulo-Sutural Dysplasia

Abstract Approximately one-third of all cellular proteins are synthesized in association with the endoplasmic reticulum (ER). The coat protein complex II (COPII) transport vesicles represent the first step of the intracellular secretory pathway responsible for the traffic of secretory, plasma membrane and vacuolar proteins from the ER to the ER-Golgi intermediate compartment (ERGIC) and ultimately to the cis-Golgi complex (Schekman and Orci, 1996; Duden, 2003). The combination of cytoplasmic coat proteins determines the characteristics of the COPII- and COPI-coated vesicular carriers that mediate the anterograde and retrograde ER-to-Golgi transport, respectively. In addition to determining the directionality of the vesicular secretory pathway, the combination of coat proteins determines the specificity of the cargo and targeting SNARE proteins to be transported. For additional details, please see Supplementary section Secretory pathway and SEC23A locus overview.