ab172730 - Rabbit monoclonal IgG, is suitable for use as an isotype control with this antibody.
Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.
Expressed in many tissues including small intestine, liver, muscle and brain.
Involvement in disease
Defects in SAR1B are the cause of chylomicron retention disease (CMRD) [MIM:246700]; also known as Anderson disease (ANDD). CMRD is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.
Belongs to the small GTPase superfamily. SAR1 family.
Endoplasmic reticulum membrane. Golgi apparatus > Golgi stack membrane. Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region.
Smagris E et al. Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins. J Biol Chem291:10659-76 (2016).
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