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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders |
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| Authors: | Jones Bethan Jones Emma L Bonney Stephanie A Patel Hetal N Mensenkamp Arjen R Eichenbaum-Voline Sophie Rudling Mats Myrdal Urban Annesi Grazia Naik Sandhia Meadows Nigel Quattrone Aldo Islam Suhail A Naoumova Rossitza P Angelin Bo Infante Recaredo Levy Emile Roy Claude C Freemont Paul S Scott James Shoulders Carol C |
| Institution: | Genomic & Molecular Medicine Group, MRC Clinical Sciences Centre, Imperial College, London, England, UK. |
| Abstract: | Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins initiates the intracellular transport of proteins in COPII (coat protein)-coated vesicles. Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell. |
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