Primary Identifier | MGI:105099 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 18542 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable collagen binding activity; heparin binding activity; and peptidase activator activity. Acts upstream of or within cellular response to leukemia inhibitory factor and proteolysis. Located in extracellular space. Is expressed in several structures, including adrenal gland; branchial arch; embryo endoderm; lower jaw; and umbilical blood vessel. Orthologous to human PCOLCE (procollagen C-endopeptidase enhancer). PHENOTYPE: Homozygous mutation of this gene results in thickened cortical and trabecular bone and abnormal collagen fibrils in both mineralized and nonmineralized tissues. [provided by MGI curators] |