| Primary Identifier | MGI:104769 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14230 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables FK506 binding activity and peptidyl-prolyl cis-trans isomerase activity. Acts upstream of or within several processes, including aorta morphogenesis; extracellular matrix organization; and protein modification process. Located in endoplasmic reticulum; membrane; and mitochondrial intermembrane space. Is expressed in several structures, including brain vascular element; connective tissue; heart; metanephros; and skeleton. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 11. Orthologous to human FKBP10 (FKBP prolyl isomerase 10). PHENOTYPE: Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
