Primary Identifier | MGI:106442 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 27973 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables vitamin-K-epoxide reductase (warfarin-sensitive) activity. Involved in blood coagulation and bone development. Acts upstream of or within positive regulation of coagulation and vitamin K metabolic process. Is active in endoplasmic reticulum lumen. Is expressed in chondrocranium; extraembryonic component; jaw; and liver. Human ortholog(s) of this gene implicated in combined deficiency of vitamin K-dependent clotting factors 2 and warfarin resistance. Orthologous to human VKORC1 (vitamin K epoxide reductase complex subunit 1). PHENOTYPE: Spontaneous mutations of this gene have been associated with resistance to the anticoagulant effect of warfarin. Mice homozygous for a knock-out allele exhibit prenatal lethality and hemorrhages associated with defects in vitamin K-dependent coagulation. [provided by MGI curators] |