Primary Identifier | MGI:95834 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 14827 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including identical protein binding activity; protein disulfide isomerase activity; and protein-disulfide reductase (glutathione) activity. Acts upstream of or within cellular response to interleukin-7; platelet aggregation; and positive regulation of extrinsic apoptotic signaling pathway. Located in cell surface and endoplasmic reticulum. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and limb segment. Human ortholog(s) of this gene implicated in autoimmune hepatitis. Orthologous to human PDIA3 (protein disulfide isomerase family A member 3). PHENOTYPE: Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormalbone volume bone morphology. [provided by MGI curators] |