Primary Identifier | MGI:97771 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 19123 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptidase activity. Acts upstream of or within liver development; negative regulation of blood coagulation; and regulation of circulating fibrinogen levels. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Predicted to be active in extracellular space. Is expressed in embryo; liver; and liver lobe. Human ortholog(s) of this gene implicated in several diseases, including antiphospholipid syndrome; central retinal vein occlusion; placental abruption; thrombophilia (multiple); and toxic shock syndrome. Orthologous to human PROC (protein C, inactivator of coagulation factors Va and VIIIa). PHENOTYPE: Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice. [provided by MGI curators] |