Predicted to enable G protein activity and amino acid sensor activity. Involved in lipid export from cell and lipoprotein transport. Predicted to be located in cytosol. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site and lysosomal membrane. Is expressed in cerebral cortex intermediate zone; cerebral cortex subventricular zone; cerebral cortex ventricular layer; cortical plate; and cortical preplate. Used to study chylomicron retention disease. Human ortholog(s) of this gene implicated in chylomicron retention disease. Orthologous to human SAR1B (secretion associated Ras related GTPase 1B).
MGI Description
PHENOTYPE: Mice homozygous for a null allele show late-gestational lethality. Heterozygous mice exhibit lower triglyceride, total cholesterol, and HDL cholesterol levels, fat malabsorption, and reduced chylomicron secretion. [provided by MGI curators]