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Merck
CN
  • Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Nature genetics (2003-04-15)
Bethan Jones, Emma L Jones, Stephanie A Bonney, Hetal N Patel, Arjen R Mensenkamp, Sophie Eichenbaum-Voline, Mats Rudling, Urban Myrdal, Grazia Annesi, Sandhia Naik, Nigel Meadows, Aldo Quattrone, Suhail A Islam, Rossitza P Naoumova, Bo Angelin, Recaredo Infante, Emile Levy, Claude C Roy, Paul S Freemont, James Scott, Carol C Shoulders
PMID12692552
摘要

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.