Primary Identifier | MGI:1858696 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 54161 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable structural molecule activity. Predicted to be involved in several processes, including Golgi vesicle transport; establishment of Golgi localization; and organelle transport along microtubule. Located in Golgi membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study combined immunodeficiency and polyclonal hypergammaglobulinemia. Orthologous to human COPG1 (COPI coat complex subunit gamma 1). PHENOTYPE: Homozygosity for the p.K652E mutation increases ER stress in B cells and impairs immune response to bacterial infections, leading to weight loss, hunched posture and ruffled fur. [provided by MGI curators] |