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Overview
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Background
There are a number of components involved in the secretory pathway of cells. Vesicular traffic within the early secretory pathway is mediated by COPI- and COPII-coated vesicles. The COPII vesicle coat protein promotes the formation of endoplasmic reticulum (ER) derived transport vesicles that carry secretory proteins to the Golgi complex. The SAR1 gene encodes two isoforms, Sar1a and Sar1B, in mammalian cells. These proteins are low-molecular-weight GTPases, which are essential for the formation of transport vesicles from the ER. Mutations in the SAR1 gene result in Anderson’s disease (and/or chylomicron retention disease CMRD), a rare, autosomal recessive lipid malabsorption disorder characterized by chronic diarrhea, failure to thrive and hypocholesterolemia in childhood.
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