|Other Accession||NP_057187.1, NP_001028675.1|
|Other Names||GTP-binding protein SAR1b, GTP-binding protein B, GTBPB, SAR1B, SARA2, SARB|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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.|
|Cellular Location||Endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Note=Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region.|
|Tissue Location||Expressed in many tissues including small intestine, liver, muscle and brain|
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The protein encoded by this gene is a small GTPase thatacts as a homodimer. The encoded protein is activated by theguanine nucleotide exchange factor PREB and is involved in proteintransport from the endoplasmic reticulum to the Golgi. This proteinis part of the COPII coat complex. Defects in this gene are a causeof chylomicron retention disease (CMRD), also known as Andersondisease (ANDD). Two transcript variants encoding the same proteinhave been found for this gene.
Cefalu, A.B., et al. Metab. Clin. Exp. 59(4):463-467(2010)Silvain, M., et al. Clin. Genet. 74(6):546-552(2008)Charcosset, M., et al. Mol. Genet. Metab. 93(1):74-84(2008)Jardim, D.L., et al. J. Biochem. Mol. Biol. 38(3):328-333(2005)Jones, B., et al. Nat. Genet. 34(1):29-31(2003)
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