The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene.
Pathway
Adaptive Immune System; Antigen Presentation: Folding, assembly and peptide loading of class I MHC; Asparagine N-linked glycosylation; COPII (Coat Protein 2) Mediated Vesicle Transport; COPII complex;Chylomicron-mediated lipid transport; Class I MHC mediated antigen processing & presentation; ER to Golgi Transport; Immune System; Legionellosis;
Citations
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