Primary Identifier | MGI:1913647 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 66397 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable GTPase activity. Predicted to be involved in several processes, including positive regulation of protein exit from endoplasmic reticulum; protein transport; and regulation of COPII vesicle coating. Predicted to act upstream of or within protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and membrane. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. 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). 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] |