Primary Identifier | MGI:97750 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 19035 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable RNA polymerase binding activity; cyclosporin A binding activity; and peptidyl-prolyl cis-trans isomerase activity. Predicted to contribute to collagen binding activity. Predicted to be involved in several processes, including neutrophil chemotaxis; positive regulation by host of viral genome replication; and protein peptidyl-prolyl isomerization. Part of endoplasmic reticulum chaperone complex. Is expressed in several structures, including axial skeleton; cranium; inner ear; and pancreas tip epithelium. Used to study osteogenesis imperfecta type 9. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 9. Orthologous to human PPIB (peptidylprolyl isomerase B). PHENOTYPE: Homozygotes for a null mutations develop kyphosis and severe osteoporosis. Bone structure abnormalities are also seen in the trabecular and cortical regions of the long bones. Bone mineral density is reduced, and bones have reduced strength and are susceptible to fractures. [provided by MGI curators] |