Primary Identifier | MGI:108030 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 12282 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable adenyl-nucleotide exchange factor activity. Involved in negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway and response to ischemia. Part of endoplasmic reticulum chaperone complex. Is expressed in cerebral cortex subventricular zone; cortical plate; embryo; and tail. Human ortholog(s) of this gene implicated in immunodeficiency 59. Orthologous to human HYOU1 (hypoxia up-regulated 1). PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous mice display increased susceptibility to induced neuronal cell death. [provided by MGI curators] |