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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Acknowledgements
We thank G. Mcphail and J. Amey for their contributions to the study, T. Aitman and A. Soutar for critical reading of the manuscript and R. Lale-Montes for excellent secretarial assistance. We are indebted to the British Heart Foundation and Medical Research Council, Swedish Research Council and Heart-Lung Foundation. Approved gene symbols were obtained from the HUGO Gene Nomenclature Committee.
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Jones, B., Jones, E., Bonney, S. et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 34, 29–31 (2003). https://doi.org/10.1038/ng1145
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DOI: https://doi.org/10.1038/ng1145
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