Structural highlightsDiseaseSAR1B_HUMAN Chylomicron retention disease. The disease is caused by variants affecting the gene represented in this entry.
FunctionSAR1B_HUMAN GTP-binding protein involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Activated by the guanine nucleotide exchange factor PREB (By similarity). Involved in the selection of the protein cargo and the assembly of the COPII coat complex (By similarity). Synergizes with the cargo receptor SURF4 to mediate the export of lipoproteins from the endoplasmic reticulum, thereby regulating lipoprotein delivery and the maintenance of lipid homeostasis (PubMed:33186557).[UniProtKB:Q9QVY3][1]
References
- ↑ Wang X, Wang H, Xu B, Huang D, Nie C, Pu L, Zajac GJM, Yan H, Zhao J, Shi F, Emmer BT, Lu J, Wang R, Dong X, Dai J, Zhou W, Wang C, Gao G, Wang Y, Willer C, Lu X, Zhu Y, Chen XW. Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans. Cell Metab. 2021 Feb 2;33(2):350-366.e7. doi: 10.1016/j.cmet.2020.10.020. Epub , 2020 Nov 12. PMID:33186557 doi:http://dx.doi.org/10.1016/j.cmet.2020.10.020
| |