Aliases for VKORC1 Gene
- Vitamin K Epoxide Reductase Complex, Subunit 1 2 3
- VKOR 3 4 6
- Vitamin K Dependent Clotting Factors Deficiency 2 2 3
- Vitamin K1 2,3-Epoxide Reductase Subunit 1 3 4
- VKCFD2 3 6
- Vitamin K1 Epoxide Reductase (Warfarin-Sensitive) 3
- Vitamin K Epoxide Reductase Complex Subunit 1 3
- Phylloquinone Epoxide Reductase 3
External Ids for VKORC1 Gene
Previous Symbols for VKORC1 Gene
Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for VKORC1 Gene
VKORC1 (Vitamin K Epoxide Reductase Complex, Subunit 1) is a Protein Coding gene. Diseases associated with VKORC1 include diffuse alveolar hemorrhage and coumarin resistance. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is VKORC1L1.
UniProtKB/Swiss-Prot for VKORC1 Gene
Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development.