Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Article Details
- CitationCopy to clipboard
Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Nat Genet. 2003 May;34(1):29-31.
- PubMed ID
- 12692552 [ View in PubMed]
- 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.